Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63496884T>A | CA400567148 | ACE | c.3590T>A (p.Met1197Lys) c.1868T>A (p.Met623Lys) c.1745T>A (p.Met582Lys) n.600T>A c.*1345T>A (n.*1345T>A) c.*1319T>A (n.*1319T>A) c.277T>A n.464T>A c.3041T>A (p.Met1014Lys) c.1928T>A (p.Met643Lys) c.3023T>A (p.Met1008Lys) c.2738T>A (p.Met913Lys) c.1205T>A (p.Met402Lys) n.1968T>A | |
17 | g.63496884T>C | CA400567136 | ACE | c.3590T>C (p.Met1197Thr) c.1868T>C (p.Met623Thr) c.1745T>C (p.Met582Thr) n.600T>C c.*1345T>C (n.*1345T>C) c.*1319T>C (n.*1319T>C) c.277T>C n.464T>C c.3041T>C (p.Met1014Thr) c.1928T>C (p.Met643Thr) c.3023T>C (p.Met1008Thr) c.2738T>C (p.Met913Thr) c.1205T>C (p.Met402Thr) n.1968T>C | gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.63496884T>G | CA400567144 | ACE | c.3590T>G (p.Met1197Arg) c.1868T>G (p.Met623Arg) c.1745T>G (p.Met582Arg) n.600T>G c.*1345T>G (n.*1345T>G) c.*1319T>G (n.*1319T>G) c.277T>G n.464T>G c.3041T>G (p.Met1014Arg) c.1928T>G (p.Met643Arg) c.3023T>G (p.Met1008Arg) c.2738T>G (p.Met913Arg) c.1205T>G (p.Met402Arg) n.1968T>G | |
17 | g.63496885G>A | CA400567155 | ACE | c.3591G>A (p.Met1197Ile) c.1869G>A (p.Met623Ile) c.1746G>A (p.Met582Ile) n.601G>A c.*1346G>A (n.*1346G>A) c.*1320G>A (n.*1320G>A) c.278G>A n.465G>A c.3042G>A (p.Met1014Ile) c.1929G>A (p.Met643Ile) c.3024G>A (p.Met1008Ile) c.2739G>A (p.Met913Ile) c.1206G>A (p.Met402Ile) n.1969G>A | gnomAD v4 |
17 | g.63496885G>C | CA400567170 | ACE | c.3591G>C (p.Met1197Ile) c.1869G>C (p.Met623Ile) c.1746G>C (p.Met582Ile) n.601G>C c.*1346G>C (n.*1346G>C) c.*1320G>C (n.*1320G>C) c.278G>C n.465G>C c.3042G>C (p.Met1014Ile) c.1929G>C (p.Met643Ile) c.3024G>C (p.Met1008Ile) c.2739G>C (p.Met913Ile) c.1206G>C (p.Met402Ile) n.1969G>C | |
17 | g.63496885G>T | CA400567173 | ACE | c.3591G>T (p.Met1197Ile) c.1869G>T (p.Met623Ile) c.1746G>T (p.Met582Ile) n.601G>T c.*1346G>T (n.*1346G>T) c.*1320G>T (n.*1320G>T) c.278G>T n.465G>T c.3042G>T (p.Met1014Ile) c.1929G>T (p.Met643Ile) c.3024G>T (p.Met1008Ile) c.2739G>T (p.Met913Ile) c.1206G>T (p.Met402Ile) n.1969G>T | |
17 | g.63496886T>A | CA400567182 | ACE | c.3592T>A (p.Leu1198Met) c.1870T>A (p.Leu624Met) c.1747T>A (p.Leu583Met) n.602T>A c.*1347T>A (n.*1347T>A) c.*1321T>A (n.*1321T>A) c.279T>A n.466T>A c.3043T>A (p.Leu1015Met) c.1930T>A (p.Leu644Met) c.3025T>A (p.Leu1009Met) c.2740T>A (p.Leu914Met) c.1207T>A (p.Leu403Met) n.1970T>A | |
17 | g.63496886T>C | CA501342375 | ACE | c.3592T>C (p.Leu1198=) c.1870T>C (p.Leu624=) c.1747T>C (p.Leu583=) n.602T>C c.*1347T>C (n.*1347T>C) c.*1321T>C (n.*1321T>C) c.279T>C n.466T>C c.3043T>C (p.Leu1015=) c.1930T>C (p.Leu644=) c.3025T>C (p.Leu1009=) c.2740T>C (p.Leu914=) c.1207T>C (p.Leu403=) n.1970T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63496886T>G | CA400567189 | ACE | c.3592T>G (p.Leu1198Val) c.1870T>G (p.Leu624Val) c.1747T>G (p.Leu583Val) n.602T>G c.*1347T>G (n.*1347T>G) c.*1321T>G (n.*1321T>G) c.279T>G n.466T>G c.3043T>G (p.Leu1015Val) c.1930T>G (p.Leu644Val) c.3025T>G (p.Leu1009Val) c.2740T>G (p.Leu914Val) c.1207T>G (p.Leu403Val) n.1970T>G | |
17 | g.63496886T= | CA2269949793 | ACE | c.3592T= (p.Leu1198=) c.1870T= (p.Leu624=) c.1747T= (p.Leu583=) n.602T= c.*1347T= (n.*1347T=) c.*1321T= (n.*1321T=) c.279T= n.466T= c.3043T= (p.Leu1015=) c.1930T= (p.Leu644=) c.3025T= (p.Leu1009=) c.2740T= (p.Leu914=) c.1207T= (p.Leu403=) n.1970T= | |
17 | g.63496887T>A | CA400567194 | ACE | c.3593T>A (p.Leu1198Ter) c.1871T>A (p.Leu624Ter) c.1748T>A (p.Leu583Ter) n.603T>A c.*1348T>A (n.*1348T>A) c.*1322T>A (n.*1322T>A) c.280T>A n.467T>A c.3044T>A (p.Leu1015Ter) c.1931T>A (p.Leu644Ter) c.3026T>A (p.Leu1009Ter) c.2741T>A (p.Leu914Ter) c.1208T>A (p.Leu403Ter) n.1971T>A | |
17 | g.63496887T>C | CA400567198 | ACE | c.3593T>C (p.Leu1198Ser) c.1871T>C (p.Leu624Ser) c.1748T>C (p.Leu583Ser) n.603T>C c.*1348T>C (n.*1348T>C) c.*1322T>C (n.*1322T>C) c.280T>C n.467T>C c.3044T>C (p.Leu1015Ser) c.1931T>C (p.Leu644Ser) c.3026T>C (p.Leu1009Ser) c.2741T>C (p.Leu914Ser) c.1208T>C (p.Leu403Ser) n.1971T>C | |
17 | g.63496887T>G | CA400567202 | ACE | c.3593T>G (p.Leu1198Trp) c.1871T>G (p.Leu624Trp) c.1748T>G (p.Leu583Trp) n.603T>G c.*1348T>G (n.*1348T>G) c.*1322T>G (n.*1322T>G) c.280T>G n.467T>G c.3044T>G (p.Leu1015Trp) c.1931T>G (p.Leu644Trp) c.3026T>G (p.Leu1009Trp) c.2741T>G (p.Leu914Trp) c.1208T>G (p.Leu403Trp) n.1971T>G | gnomAD v4 |
17 | g.63496888G>A | CA501342377 | ACE | c.3594G>A (p.Leu1198=) c.1872G>A (p.Leu624=) c.1749G>A (p.Leu583=) n.604G>A c.*1349G>A (n.*1349G>A) c.*1323G>A (n.*1323G>A) c.281G>A n.468G>A c.3045G>A (p.Leu1015=) c.1932G>A (p.Leu644=) c.3027G>A (p.Leu1009=) c.2742G>A (p.Leu914=) c.1209G>A (p.Leu403=) n.1972G>A | gnomAD v4 |
17 | g.63496888G>C | CA400567207 | ACE | c.3594G>C (p.Leu1198Phe) c.1872G>C (p.Leu624Phe) c.1749G>C (p.Leu583Phe) n.604G>C c.*1349G>C (n.*1349G>C) c.*1323G>C (n.*1323G>C) c.281G>C n.468G>C c.3045G>C (p.Leu1015Phe) c.1932G>C (p.Leu644Phe) c.3027G>C (p.Leu1009Phe) c.2742G>C (p.Leu914Phe) c.1209G>C (p.Leu403Phe) n.1972G>C | |
17 | g.63496888G>T | CA400567217 | ACE | c.3594G>T (p.Leu1198Phe) c.1872G>T (p.Leu624Phe) c.1749G>T (p.Leu583Phe) n.604G>T c.*1349G>T (n.*1349G>T) c.*1323G>T (n.*1323G>T) c.281G>T n.468G>T c.3045G>T (p.Leu1015Phe) c.1932G>T (p.Leu644Phe) c.3027G>T (p.Leu1009Phe) c.2742G>T (p.Leu914Phe) c.1209G>T (p.Leu403Phe) n.1972G>T | |
17 | g.63496889A>C | CA400567224 | ACE | c.3595A>C (p.Ser1199Arg) c.1873A>C (p.Ser625Arg) c.1750A>C (p.Ser584Arg) n.605A>C c.*1350A>C (n.*1350A>C) c.*1324A>C (n.*1324A>C) c.282A>C n.469A>C c.3046A>C (p.Ser1016Arg) c.1933A>C (p.Ser645Arg) c.3028A>C (p.Ser1010Arg) c.2743A>C (p.Ser915Arg) c.1210A>C (p.Ser404Arg) n.1973A>C | |
17 | g.63496889A>G | CA400567228 | ACE | c.3595A>G (p.Ser1199Gly) c.1873A>G (p.Ser625Gly) c.1750A>G (p.Ser584Gly) n.605A>G c.*1350A>G (n.*1350A>G) c.*1324A>G (n.*1324A>G) c.282A>G n.469A>G c.3046A>G (p.Ser1016Gly) c.1933A>G (p.Ser645Gly) c.3028A>G (p.Ser1010Gly) c.2743A>G (p.Ser915Gly) c.1210A>G (p.Ser404Gly) n.1973A>G | |
17 | g.63496889A>T | CA400567220 | ACE | c.3595A>T (p.Ser1199Cys) c.1873A>T (p.Ser625Cys) c.1750A>T (p.Ser584Cys) n.605A>T c.*1350A>T (n.*1350A>T) c.*1324A>T (n.*1324A>T) c.282A>T n.469A>T c.3046A>T (p.Ser1016Cys) c.1933A>T (p.Ser645Cys) c.3028A>T (p.Ser1010Cys) c.2743A>T (p.Ser915Cys) c.1210A>T (p.Ser404Cys) n.1973A>T | |
17 | g.63496890G>A | CA400567233 | ACE | c.3596G>A (p.Ser1199Asn) c.1874G>A (p.Ser625Asn) c.1751G>A (p.Ser584Asn) n.606G>A c.*1351G>A (n.*1351G>A) c.*1325G>A (n.*1325G>A) c.283G>A n.470G>A c.3047G>A (p.Ser1016Asn) c.1934G>A (p.Ser645Asn) c.3029G>A (p.Ser1010Asn) c.2744G>A (p.Ser915Asn) c.1211G>A (p.Ser404Asn) n.1974G>A | |
17 | g.63496890G>C | CA400567236 | ACE | c.3596G>C (p.Ser1199Thr) c.1874G>C (p.Ser625Thr) c.1751G>C (p.Ser584Thr) n.606G>C c.*1351G>C (n.*1351G>C) c.*1325G>C (n.*1325G>C) c.283G>C n.470G>C c.3047G>C (p.Ser1016Thr) c.1934G>C (p.Ser645Thr) c.3029G>C (p.Ser1010Thr) c.2744G>C (p.Ser915Thr) c.1211G>C (p.Ser404Thr) n.1974G>C | |
17 | g.63496890G>T | CA400567239 | ACE | c.3596G>T (p.Ser1199Ile) c.1874G>T (p.Ser625Ile) c.1751G>T (p.Ser584Ile) n.606G>T c.*1351G>T (n.*1351G>T) c.*1325G>T (n.*1325G>T) c.283G>T n.470G>T c.3047G>T (p.Ser1016Ile) c.1934G>T (p.Ser645Ile) c.3029G>T (p.Ser1010Ile) c.2744G>T (p.Ser915Ile) c.1211G>T (p.Ser404Ile) n.1974G>T | gnomAD v4 |
17 | g.63496891C>A | CA400567245 | ACE | c.3597C>A (p.Ser1199Arg) c.1875C>A (p.Ser625Arg) c.1752C>A (p.Ser584Arg) n.607C>A c.*1352C>A (n.*1352C>A) c.*1326C>A (n.*1326C>A) c.284C>A n.471C>A c.3048C>A (p.Ser1016Arg) c.1935C>A (p.Ser645Arg) c.3030C>A (p.Ser1010Arg) c.2745C>A (p.Ser915Arg) c.1212C>A (p.Ser404Arg) n.1975C>A | |
17 | g.63496891C>G | CA400567248 | ACE | c.3597C>G (p.Ser1199Arg) c.1875C>G (p.Ser625Arg) c.1752C>G (p.Ser584Arg) n.607C>G c.*1352C>G (n.*1352C>G) c.*1326C>G (n.*1326C>G) c.284C>G n.471C>G c.3048C>G (p.Ser1016Arg) c.1935C>G (p.Ser645Arg) c.3030C>G (p.Ser1010Arg) c.2745C>G (p.Ser915Arg) c.1212C>G (p.Ser404Arg) n.1975C>G | |
17 | g.63496891C>T | CA501342380 | ACE | c.3597C>T (p.Ser1199=) c.1875C>T (p.Ser625=) c.1752C>T (p.Ser584=) n.607C>T c.*1352C>T (n.*1352C>T) c.*1326C>T (n.*1326C>T) c.284C>T n.471C>T c.3048C>T (p.Ser1016=) c.1935C>T (p.Ser645=) c.3030C>T (p.Ser1010=) c.2745C>T (p.Ser915=) c.1212C>T (p.Ser404=) n.1975C>T | |
17 | g.63496892T>A | CA400567259 | ACE | c.3598T>A (p.Tyr1200Asn) c.1876T>A (p.Tyr626Asn) c.1753T>A (p.Tyr585Asn) n.608T>A c.*1353T>A (n.*1353T>A) c.*1327T>A (n.*1327T>A) c.285T>A n.472T>A c.3049T>A (p.Tyr1017Asn) c.1936T>A (p.Tyr646Asn) c.3031T>A (p.Tyr1011Asn) c.2746T>A (p.Tyr916Asn) c.1213T>A (p.Tyr405Asn) n.1976T>A | |
17 | g.63496892T>C | CA400567253 | ACE | c.3598T>C (p.Tyr1200His) c.1876T>C (p.Tyr626His) c.1753T>C (p.Tyr585His) n.608T>C c.*1353T>C (n.*1353T>C) c.*1327T>C (n.*1327T>C) c.285T>C n.472T>C c.3049T>C (p.Tyr1017His) c.1936T>C (p.Tyr646His) c.3031T>C (p.Tyr1011His) c.2746T>C (p.Tyr916His) c.1213T>C (p.Tyr405His) n.1976T>C | |
17 | g.63496892T>G | CA400567258 | ACE | c.3598T>G (p.Tyr1200Asp) c.1876T>G (p.Tyr626Asp) c.1753T>G (p.Tyr585Asp) n.608T>G c.*1353T>G (n.*1353T>G) c.*1327T>G (n.*1327T>G) c.285T>G n.472T>G c.3049T>G (p.Tyr1017Asp) c.1936T>G (p.Tyr646Asp) c.3031T>G (p.Tyr1011Asp) c.2746T>G (p.Tyr916Asp) c.1213T>G (p.Tyr405Asp) n.1976T>G | |
17 | g.63496893A>C | CA400567260 | ACE | c.3599A>C (p.Tyr1200Ser) c.1877A>C (p.Tyr626Ser) c.1754A>C (p.Tyr585Ser) n.609A>C c.*1354A>C (n.*1354A>C) c.*1328A>C (n.*1328A>C) c.286A>C n.473A>C c.3050A>C (p.Tyr1017Ser) c.1937A>C (p.Tyr646Ser) c.3032A>C (p.Tyr1011Ser) c.2747A>C (p.Tyr916Ser) c.1214A>C (p.Tyr405Ser) n.1977A>C | |
17 | g.63496893A>G | CA400567263 | ACE | c.3599A>G (p.Tyr1200Cys) c.1877A>G (p.Tyr626Cys) c.1754A>G (p.Tyr585Cys) n.609A>G c.*1354A>G (n.*1354A>G) c.*1328A>G (n.*1328A>G) c.286A>G n.473A>G c.3050A>G (p.Tyr1017Cys) c.1937A>G (p.Tyr646Cys) c.3032A>G (p.Tyr1011Cys) c.2747A>G (p.Tyr916Cys) c.1214A>G (p.Tyr405Cys) n.1977A>G | |
17 | g.63496893A>T | CA400567266 | ACE | c.3599A>T (p.Tyr1200Phe) c.1877A>T (p.Tyr626Phe) c.1754A>T (p.Tyr585Phe) n.609A>T c.*1354A>T (n.*1354A>T) c.*1328A>T (n.*1328A>T) c.286A>T n.473A>T c.3050A>T (p.Tyr1017Phe) c.1937A>T (p.Tyr646Phe) c.3032A>T (p.Tyr1011Phe) c.2747A>T (p.Tyr916Phe) c.1214A>T (p.Tyr405Phe) n.1977A>T | |
17 | g.63496894C>A | CA400567268 | ACE | c.3600C>A (p.Tyr1200Ter) c.1878C>A (p.Tyr626Ter) c.1755C>A (p.Tyr585Ter) n.610C>A c.*1355C>A (n.*1355C>A) c.*1329C>A (n.*1329C>A) c.287C>A n.474C>A c.3051C>A (p.Tyr1017Ter) c.1938C>A (p.Tyr646Ter) c.3033C>A (p.Tyr1011Ter) c.2748C>A (p.Tyr916Ter) c.1215C>A (p.Tyr405Ter) n.1978C>A | |
17 | g.63496894C= | CA2269949794 | ACE | c.3600C= (p.Tyr1200=) c.1878C= (p.Tyr626=) c.1755C= (p.Tyr585=) n.610C= c.*1355C= (n.*1355C=) c.*1329C= (n.*1329C=) c.287C= n.474C= c.3051C= (p.Tyr1017=) c.1938C= (p.Tyr646=) c.3033C= (p.Tyr1011=) c.2748C= (p.Tyr916=) c.1215C= (p.Tyr405=) n.1978C= | |
17 | g.63496894C>G | CA400567273 | ACE | c.3600C>G (p.Tyr1200Ter) c.1878C>G (p.Tyr626Ter) c.1755C>G (p.Tyr585Ter) n.610C>G c.*1355C>G (n.*1355C>G) c.*1329C>G (n.*1329C>G) c.287C>G n.474C>G c.3051C>G (p.Tyr1017Ter) c.1938C>G (p.Tyr646Ter) c.3033C>G (p.Tyr1011Ter) c.2748C>G (p.Tyr916Ter) c.1215C>G (p.Tyr405Ter) n.1978C>G | |
17 | g.63496894C>T | CA8700563 | ACE | c.3600C>T (p.Tyr1200=) c.1878C>T (p.Tyr626=) c.1755C>T (p.Tyr585=) n.610C>T c.*1355C>T (n.*1355C>T) c.*1329C>T (n.*1329C>T) c.287C>T n.474C>T c.3051C>T (p.Tyr1017=) c.1938C>T (p.Tyr646=) c.3033C>T (p.Tyr1011=) c.2748C>T (p.Tyr916=) c.1215C>T (p.Tyr405=) n.1978C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496895T>A | CA400567293 | ACE | c.3601T>A (p.Phe1201Ile) c.1879T>A (p.Phe627Ile) c.1756T>A (p.Phe586Ile) n.611T>A c.*1356T>A (n.*1356T>A) c.*1330T>A (n.*1330T>A) c.288T>A n.475T>A c.3052T>A (p.Phe1018Ile) c.1939T>A (p.Phe647Ile) c.3034T>A (p.Phe1012Ile) c.2749T>A (p.Phe917Ile) c.1216T>A (p.Phe406Ile) n.1979T>A | |
17 | g.63496895T>C | CA400567297 | ACE | c.3601T>C (p.Phe1201Leu) c.1879T>C (p.Phe627Leu) c.1756T>C (p.Phe586Leu) n.611T>C c.*1356T>C (n.*1356T>C) c.*1330T>C (n.*1330T>C) c.288T>C n.475T>C c.3052T>C (p.Phe1018Leu) c.1939T>C (p.Phe647Leu) c.3034T>C (p.Phe1012Leu) c.2749T>C (p.Phe917Leu) c.1216T>C (p.Phe406Leu) n.1979T>C | |
17 | g.63496895T>G | CA400567283 | ACE | c.3601T>G (p.Phe1201Val) c.1879T>G (p.Phe627Val) c.1756T>G (p.Phe586Val) n.611T>G c.*1356T>G (n.*1356T>G) c.*1330T>G (n.*1330T>G) c.288T>G n.475T>G c.3052T>G (p.Phe1018Val) c.1939T>G (p.Phe647Val) c.3034T>G (p.Phe1012Val) c.2749T>G (p.Phe917Val) c.1216T>G (p.Phe406Val) n.1979T>G | |
17 | g.63496896T>A | CA400567302 | ACE | c.3602T>A (p.Phe1201Tyr) c.1880T>A (p.Phe627Tyr) c.1757T>A (p.Phe586Tyr) n.612T>A c.*1357T>A (n.*1357T>A) c.*1331T>A (n.*1331T>A) c.289T>A n.476T>A c.3053T>A (p.Phe1018Tyr) c.1940T>A (p.Phe647Tyr) c.3035T>A (p.Phe1012Tyr) c.2750T>A (p.Phe917Tyr) c.1217T>A (p.Phe406Tyr) n.1980T>A | |
17 | g.63496896T>C | CA400567304 | ACE | c.3602T>C (p.Phe1201Ser) c.1880T>C (p.Phe627Ser) c.1757T>C (p.Phe586Ser) n.612T>C c.*1357T>C (n.*1357T>C) c.*1331T>C (n.*1331T>C) c.289T>C n.476T>C c.3053T>C (p.Phe1018Ser) c.1940T>C (p.Phe647Ser) c.3035T>C (p.Phe1012Ser) c.2750T>C (p.Phe917Ser) c.1217T>C (p.Phe406Ser) n.1980T>C | dbSNP |
17 | g.63496896T>G | CA400567307 | ACE | c.3602T>G (p.Phe1201Cys) c.1880T>G (p.Phe627Cys) c.1757T>G (p.Phe586Cys) n.612T>G c.*1357T>G (n.*1357T>G) c.*1331T>G (n.*1331T>G) c.289T>G n.476T>G c.3053T>G (p.Phe1018Cys) c.1940T>G (p.Phe647Cys) c.3035T>G (p.Phe1012Cys) c.2750T>G (p.Phe917Cys) c.1217T>G (p.Phe406Cys) n.1980T>G | |
17 | g.63496897C>A | CA8700564 | ACE | c.3603C>A (p.Phe1201Leu) c.1881C>A (p.Phe627Leu) c.1758C>A (p.Phe586Leu) n.613C>A c.*1358C>A (n.*1358C>A) c.*1332C>A (n.*1332C>A) c.290C>A n.477C>A c.3054C>A (p.Phe1018Leu) c.1941C>A (p.Phe647Leu) c.3036C>A (p.Phe1012Leu) c.2751C>A (p.Phe917Leu) c.1218C>A (p.Phe406Leu) n.1981C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496897C= | CA2269949795 | ACE | c.3603C= (p.Phe1201=) c.1881C= (p.Phe627=) c.1758C= (p.Phe586=) n.613C= c.*1358C= (n.*1358C=) c.*1332C= (n.*1332C=) c.290C= n.477C= c.3054C= (p.Phe1018=) c.1941C= (p.Phe647=) c.3036C= (p.Phe1012=) c.2751C= (p.Phe917=) c.1218C= (p.Phe406=) n.1981C= | |
17 | g.63496897C>G | CA400567312 | ACE | c.3603C>G (p.Phe1201Leu) c.1881C>G (p.Phe627Leu) c.1758C>G (p.Phe586Leu) n.613C>G c.*1358C>G (n.*1358C>G) c.*1332C>G (n.*1332C>G) c.290C>G n.477C>G c.3054C>G (p.Phe1018Leu) c.1941C>G (p.Phe647Leu) c.3036C>G (p.Phe1012Leu) c.2751C>G (p.Phe917Leu) c.1218C>G (p.Phe406Leu) n.1981C>G | |
17 | g.63496897C>T | CA501342387 | ACE | c.3603C>T (p.Phe1201=) c.1881C>T (p.Phe627=) c.1758C>T (p.Phe586=) n.613C>T c.*1358C>T (n.*1358C>T) c.*1332C>T (n.*1332C>T) c.290C>T n.477C>T c.3054C>T (p.Phe1018=) c.1941C>T (p.Phe647=) c.3036C>T (p.Phe1012=) c.2751C>T (p.Phe917=) c.1218C>T (p.Phe406=) n.1981C>T | gnomAD v4 |
17 | g.63496898A>C | CA400567317 | ACE | c.3604A>C (p.Lys1202Gln) c.1882A>C (p.Lys628Gln) c.1759A>C (p.Lys587Gln) n.614A>C c.*1359A>C (n.*1359A>C) c.*1333A>C (n.*1333A>C) c.291A>C n.478A>C c.3055A>C (p.Lys1019Gln) c.1942A>C (p.Lys648Gln) c.3037A>C (p.Lys1013Gln) c.2752A>C (p.Lys918Gln) c.1219A>C (p.Lys407Gln) n.1982A>C | |
17 | g.63496898A>G | CA400567320 | ACE | c.3604A>G (p.Lys1202Glu) c.1882A>G (p.Lys628Glu) c.1759A>G (p.Lys587Glu) n.614A>G c.*1359A>G (n.*1359A>G) c.*1333A>G (n.*1333A>G) c.291A>G n.478A>G c.3055A>G (p.Lys1019Glu) c.1942A>G (p.Lys648Glu) c.3037A>G (p.Lys1013Glu) c.2752A>G (p.Lys918Glu) c.1219A>G (p.Lys407Glu) n.1982A>G | |
17 | g.63496898A>T | CA400567322 | ACE | c.3604A>T (p.Lys1202Ter) c.1882A>T (p.Lys628Ter) c.1759A>T (p.Lys587Ter) n.614A>T c.*1359A>T (n.*1359A>T) c.*1333A>T (n.*1333A>T) c.291A>T n.478A>T c.3055A>T (p.Lys1019Ter) c.1942A>T (p.Lys648Ter) c.3037A>T (p.Lys1013Ter) c.2752A>T (p.Lys918Ter) c.1219A>T (p.Lys407Ter) n.1982A>T | |
17 | g.63496899A>C | CA400567325 | ACE | c.3605A>C (p.Lys1202Thr) c.1883A>C (p.Lys628Thr) c.1760A>C (p.Lys587Thr) n.615A>C c.*1360A>C (n.*1360A>C) c.*1334A>C (n.*1334A>C) c.292A>C n.479A>C c.3056A>C (p.Lys1019Thr) c.1943A>C (p.Lys648Thr) c.3038A>C (p.Lys1013Thr) c.2753A>C (p.Lys918Thr) c.1220A>C (p.Lys407Thr) n.1983A>C | |
17 | g.63496899A>G | CA400567329 | ACE | c.3605A>G (p.Lys1202Arg) c.1883A>G (p.Lys628Arg) c.1760A>G (p.Lys587Arg) n.615A>G c.*1360A>G (n.*1360A>G) c.*1334A>G (n.*1334A>G) c.292A>G n.479A>G c.3056A>G (p.Lys1019Arg) c.1943A>G (p.Lys648Arg) c.3038A>G (p.Lys1013Arg) c.2753A>G (p.Lys918Arg) c.1220A>G (p.Lys407Arg) n.1983A>G | |
17 | g.63496899A>T | CA400567332 | ACE | c.3605A>T (p.Lys1202Met) c.1883A>T (p.Lys628Met) c.1760A>T (p.Lys587Met) n.615A>T c.*1360A>T (n.*1360A>T) c.*1334A>T (n.*1334A>T) c.292A>T n.479A>T c.3056A>T (p.Lys1019Met) c.1943A>T (p.Lys648Met) c.3038A>T (p.Lys1013Met) c.2753A>T (p.Lys918Met) c.1220A>T (p.Lys407Met) n.1983A>T | |
17 | g.63496900G>A | CA501342392 | ACE | c.3606G>A (p.Lys1202=) c.1884G>A (p.Lys628=) c.1761G>A (p.Lys587=) n.616G>A c.*1361G>A (n.*1361G>A) c.*1335G>A (n.*1335G>A) c.293G>A n.480G>A c.3057G>A (p.Lys1019=) c.1944G>A (p.Lys648=) c.3039G>A (p.Lys1013=) c.2754G>A (p.Lys918=) c.1221G>A (p.Lys407=) n.1984G>A | gnomAD v4 |
17 | g.63496900G>C | CA400567336 | ACE | c.3606G>C (p.Lys1202Asn) c.1884G>C (p.Lys628Asn) c.1761G>C (p.Lys587Asn) n.616G>C c.*1361G>C (n.*1361G>C) c.*1335G>C (n.*1335G>C) c.293G>C n.480G>C c.3057G>C (p.Lys1019Asn) c.1944G>C (p.Lys648Asn) c.3039G>C (p.Lys1013Asn) c.2754G>C (p.Lys918Asn) c.1221G>C (p.Lys407Asn) n.1984G>C | |
17 | g.63496900G>T | CA400567343 | ACE | c.3606G>T (p.Lys1202Asn) c.1884G>T (p.Lys628Asn) c.1761G>T (p.Lys587Asn) n.616G>T c.*1361G>T (n.*1361G>T) c.*1335G>T (n.*1335G>T) c.293G>T n.480G>T c.3057G>T (p.Lys1019Asn) c.1944G>T (p.Lys648Asn) c.3039G>T (p.Lys1013Asn) c.2754G>T (p.Lys918Asn) c.1221G>T (p.Lys407Asn) n.1984G>T | |
17 | g.63496901C>A | CA400567355 | ACE | c.3607C>A (p.Pro1203Thr) c.1885C>A (p.Pro629Thr) c.1762C>A (p.Pro588Thr) n.617C>A c.*1362C>A (n.*1362C>A) c.*1336C>A (n.*1336C>A) c.294C>A n.481C>A c.3058C>A (p.Pro1020Thr) c.1945C>A (p.Pro649Thr) c.3040C>A (p.Pro1014Thr) c.2755C>A (p.Pro919Thr) c.1222C>A (p.Pro408Thr) n.1985C>A | |
17 | g.63496901C>G | CA400567352 | ACE | c.3607C>G (p.Pro1203Ala) c.1885C>G (p.Pro629Ala) c.1762C>G (p.Pro588Ala) n.617C>G c.*1362C>G (n.*1362C>G) c.*1336C>G (n.*1336C>G) c.294C>G n.481C>G c.3058C>G (p.Pro1020Ala) c.1945C>G (p.Pro649Ala) c.3040C>G (p.Pro1014Ala) c.2755C>G (p.Pro919Ala) c.1222C>G (p.Pro408Ala) n.1985C>G | |
17 | g.63496901C>T | CA400567348 | ACE | c.3607C>T (p.Pro1203Ser) c.1885C>T (p.Pro629Ser) c.1762C>T (p.Pro588Ser) n.617C>T c.*1362C>T (n.*1362C>T) c.*1336C>T (n.*1336C>T) c.294C>T n.481C>T c.3058C>T (p.Pro1020Ser) c.1945C>T (p.Pro649Ser) c.3040C>T (p.Pro1014Ser) c.2755C>T (p.Pro919Ser) c.1222C>T (p.Pro408Ser) n.1985C>T | gnomAD v4 |
17 | g.63496902C>A | CA400567365 | ACE | c.3608C>A (p.Pro1203Gln) c.1886C>A (p.Pro629Gln) c.1763C>A (p.Pro588Gln) n.618C>A c.*1363C>A (n.*1363C>A) c.*1337C>A (n.*1337C>A) c.295C>A n.482C>A c.3059C>A (p.Pro1020Gln) c.1946C>A (p.Pro649Gln) c.3041C>A (p.Pro1014Gln) c.2756C>A (p.Pro919Gln) c.1223C>A (p.Pro408Gln) n.1986C>A | |
17 | g.63496902C= | CA2269949796 | ACE | c.3608C= (p.Pro1203=) c.1886C= (p.Pro629=) c.1763C= (p.Pro588=) n.618C= c.*1363C= (n.*1363C=) c.*1337C= (n.*1337C=) c.295C= n.482C= c.3059C= (p.Pro1020=) c.1946C= (p.Pro649=) c.3041C= (p.Pro1014=) c.2756C= (p.Pro919=) c.1223C= (p.Pro408=) n.1986C= | |
17 | g.63496902C>G | CA400567370 | ACE | c.3608C>G (p.Pro1203Arg) c.1886C>G (p.Pro629Arg) c.1763C>G (p.Pro588Arg) n.618C>G c.*1363C>G (n.*1363C>G) c.*1337C>G (n.*1337C>G) c.295C>G n.482C>G c.3059C>G (p.Pro1020Arg) c.1946C>G (p.Pro649Arg) c.3041C>G (p.Pro1014Arg) c.2756C>G (p.Pro919Arg) c.1223C>G (p.Pro408Arg) n.1986C>G | gnomAD v4 |
17 | g.63496902C>T | CA8700565 | ACE | c.3608C>T (p.Pro1203Leu) c.1886C>T (p.Pro629Leu) c.1763C>T (p.Pro588Leu) n.618C>T c.*1363C>T (n.*1363C>T) c.*1337C>T (n.*1337C>T) c.295C>T n.482C>T c.3059C>T (p.Pro1020Leu) c.1946C>T (p.Pro649Leu) c.3041C>T (p.Pro1014Leu) c.2756C>T (p.Pro919Leu) c.1223C>T (p.Pro408Leu) n.1986C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63496903G>A | CA8700566 | ACE | c.3609G>A (p.Pro1203=) c.1887G>A (p.Pro629=) c.1764G>A (p.Pro588=) n.619G>A c.*1364G>A (n.*1364G>A) c.*1338G>A (n.*1338G>A) c.296G>A n.483G>A c.3060G>A (p.Pro1020=) c.1947G>A (p.Pro649=) c.3042G>A (p.Pro1014=) c.2757G>A (p.Pro919=) c.1224G>A (p.Pro408=) n.1987G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496903G>C | CA501342398 | ACE | c.3609G>C (p.Pro1203=) c.1887G>C (p.Pro629=) c.1764G>C (p.Pro588=) n.619G>C c.*1364G>C (n.*1364G>C) c.*1338G>C (n.*1338G>C) c.296G>C n.483G>C c.3060G>C (p.Pro1020=) c.1947G>C (p.Pro649=) c.3042G>C (p.Pro1014=) c.2757G>C (p.Pro919=) c.1224G>C (p.Pro408=) n.1987G>C | |
17 | g.63496903G= | CA2269949797 | ACE | c.3609G= (p.Pro1203=) c.1887G= (p.Pro629=) c.1764G= (p.Pro588=) n.619G= c.*1364G= (n.*1364G=) c.*1338G= (n.*1338G=) c.296G= n.483G= c.3060G= (p.Pro1020=) c.1947G= (p.Pro649=) c.3042G= (p.Pro1014=) c.2757G= (p.Pro919=) c.1224G= (p.Pro408=) n.1987G= | |
17 | g.63496903G>T | CA501342396 | ACE | c.3609G>T (p.Pro1203=) c.1887G>T (p.Pro629=) c.1764G>T (p.Pro588=) n.619G>T c.*1364G>T (n.*1364G>T) c.*1338G>T (n.*1338G>T) c.296G>T n.483G>T c.3060G>T (p.Pro1020=) c.1947G>T (p.Pro649=) c.3042G>T (p.Pro1014=) c.2757G>T (p.Pro919=) c.1224G>T (p.Pro408=) n.1987G>T | |
17 | g.63496904C>A | CA400567377 | ACE | c.3610C>A (p.Leu1204Met) c.1888C>A (p.Leu630Met) c.1765C>A (p.Leu589Met) n.620C>A c.*1365C>A (n.*1365C>A) c.*1339C>A (n.*1339C>A) c.297C>A n.484C>A c.3061C>A (p.Leu1021Met) c.1948C>A (p.Leu650Met) c.3043C>A (p.Leu1015Met) c.2758C>A (p.Leu920Met) c.1225C>A (p.Leu409Met) n.1988C>A | |
17 | g.63496904C>G | CA400567380 | ACE | c.3610C>G (p.Leu1204Val) c.1888C>G (p.Leu630Val) c.1765C>G (p.Leu589Val) n.620C>G c.*1365C>G (n.*1365C>G) c.*1339C>G (n.*1339C>G) c.297C>G n.484C>G c.3061C>G (p.Leu1021Val) c.1948C>G (p.Leu650Val) c.3043C>G (p.Leu1015Val) c.2758C>G (p.Leu920Val) c.1225C>G (p.Leu409Val) n.1988C>G | |
17 | g.63496904C>T | CA501342399 | ACE | c.3610C>T (p.Leu1204=) c.1888C>T (p.Leu630=) c.1765C>T (p.Leu589=) n.620C>T c.*1365C>T (n.*1365C>T) c.*1339C>T (n.*1339C>T) c.297C>T n.484C>T c.3061C>T (p.Leu1021=) c.1948C>T (p.Leu650=) c.3043C>T (p.Leu1015=) c.2758C>T (p.Leu920=) c.1225C>T (p.Leu409=) n.1988C>T | |
17 | g.63496905T>A | CA400567385 | ACE | c.3611T>A (p.Leu1204Gln) c.1889T>A (p.Leu630Gln) c.1766T>A (p.Leu589Gln) n.621T>A c.*1366T>A (n.*1366T>A) c.*1340T>A (n.*1340T>A) c.298T>A n.485T>A c.3062T>A (p.Leu1021Gln) c.1949T>A (p.Leu650Gln) c.3044T>A (p.Leu1015Gln) c.2759T>A (p.Leu920Gln) c.1226T>A (p.Leu409Gln) n.1989T>A | |
17 | g.63496905T>C | CA400567389 | ACE | c.3611T>C (p.Leu1204Pro) c.1889T>C (p.Leu630Pro) c.1766T>C (p.Leu589Pro) n.621T>C c.*1366T>C (n.*1366T>C) c.*1340T>C (n.*1340T>C) c.298T>C n.485T>C c.3062T>C (p.Leu1021Pro) c.1949T>C (p.Leu650Pro) c.3044T>C (p.Leu1015Pro) c.2759T>C (p.Leu920Pro) c.1226T>C (p.Leu409Pro) n.1989T>C | |
17 | g.63496905T>G | CA400567392 | ACE | c.3611T>G (p.Leu1204Arg) c.1889T>G (p.Leu630Arg) c.1766T>G (p.Leu589Arg) n.621T>G c.*1366T>G (n.*1366T>G) c.*1340T>G (n.*1340T>G) c.298T>G n.485T>G c.3062T>G (p.Leu1021Arg) c.1949T>G (p.Leu650Arg) c.3044T>G (p.Leu1015Arg) c.2759T>G (p.Leu920Arg) c.1226T>G (p.Leu409Arg) n.1989T>G | |
17 | g.63496906G>A | CA501342403 | ACE | c.3612G>A (p.Leu1204=) c.1890G>A (p.Leu630=) c.1767G>A (p.Leu589=) n.622G>A c.*1367G>A (n.*1367G>A) c.*1341G>A (n.*1341G>A) c.299G>A n.486G>A c.3063G>A (p.Leu1021=) c.1950G>A (p.Leu650=) c.3045G>A (p.Leu1015=) c.2760G>A (p.Leu920=) c.1227G>A (p.Leu409=) n.1990G>A | |
17 | g.63496906G>C | CA501342405 | ACE | c.3612G>C (p.Leu1204=) c.1890G>C (p.Leu630=) c.1767G>C (p.Leu589=) n.622G>C c.*1367G>C (n.*1367G>C) c.*1341G>C (n.*1341G>C) c.299G>C n.486G>C c.3063G>C (p.Leu1021=) c.1950G>C (p.Leu650=) c.3045G>C (p.Leu1015=) c.2760G>C (p.Leu920=) c.1227G>C (p.Leu409=) n.1990G>C | gnomAD v4 |
17 | g.63496906G>T | CA501342404 | ACE | c.3612G>T (p.Leu1204=) c.1890G>T (p.Leu630=) c.1767G>T (p.Leu589=) n.622G>T c.*1367G>T (n.*1367G>T) c.*1341G>T (n.*1341G>T) c.299G>T n.486G>T c.3063G>T (p.Leu1021=) c.1950G>T (p.Leu650=) c.3045G>T (p.Leu1015=) c.2760G>T (p.Leu920=) c.1227G>T (p.Leu409=) n.1990G>T | |
17 | g.63496907C>A | CA400567396 | ACE | c.3613C>A (p.Leu1205Met) c.1891C>A (p.Leu631Met) c.1768C>A (p.Leu590Met) n.623C>A c.*1368C>A (n.*1368C>A) c.*1342C>A (n.*1342C>A) c.300C>A n.487C>A c.3064C>A (p.Leu1022Met) c.1951C>A (p.Leu651Met) c.3046C>A (p.Leu1016Met) c.2761C>A (p.Leu921Met) c.1228C>A (p.Leu410Met) n.1991C>A | |
17 | g.63496907C= | CA2269949798 | ACE | c.3613C= (p.Leu1205=) c.1891C= (p.Leu631=) c.1768C= (p.Leu590=) n.623C= c.*1368C= (n.*1368C=) c.*1342C= (n.*1342C=) c.300C= n.487C= c.3064C= (p.Leu1022=) c.1951C= (p.Leu651=) c.3046C= (p.Leu1016=) c.2761C= (p.Leu921=) c.1228C= (p.Leu410=) n.1991C= | |
17 | g.63496907C>G | CA400567398 | ACE | c.3613C>G (p.Leu1205Val) c.1891C>G (p.Leu631Val) c.1768C>G (p.Leu590Val) n.623C>G c.*1368C>G (n.*1368C>G) c.*1342C>G (n.*1342C>G) c.300C>G n.487C>G c.3064C>G (p.Leu1022Val) c.1951C>G (p.Leu651Val) c.3046C>G (p.Leu1016Val) c.2761C>G (p.Leu921Val) c.1228C>G (p.Leu410Val) n.1991C>G | |
17 | g.63496907C>T | CA501342406 | ACE | c.3613C>T (p.Leu1205=) c.1891C>T (p.Leu631=) c.1768C>T (p.Leu590=) n.623C>T c.*1368C>T (n.*1368C>T) c.*1342C>T (n.*1342C>T) c.300C>T n.487C>T c.3064C>T (p.Leu1022=) c.1951C>T (p.Leu651=) c.3046C>T (p.Leu1016=) c.2761C>T (p.Leu921=) c.1228C>T (p.Leu410=) n.1991C>T | dbSNP |
17 | g.63496908T>A | CA400567402 | ACE | c.3614T>A (p.Leu1205Gln) c.1892T>A (p.Leu631Gln) c.1769T>A (p.Leu590Gln) n.624T>A c.*1369T>A (n.*1369T>A) c.*1343T>A (n.*1343T>A) c.301T>A n.488T>A c.3065T>A (p.Leu1022Gln) c.1952T>A (p.Leu651Gln) c.3047T>A (p.Leu1016Gln) c.2762T>A (p.Leu921Gln) c.1229T>A (p.Leu410Gln) n.1992T>A | |
17 | g.63496908T>C | CA400567404 | ACE | c.3614T>C (p.Leu1205Pro) c.1892T>C (p.Leu631Pro) c.1769T>C (p.Leu590Pro) n.624T>C c.*1369T>C (n.*1369T>C) c.*1343T>C (n.*1343T>C) c.301T>C n.488T>C c.3065T>C (p.Leu1022Pro) c.1952T>C (p.Leu651Pro) c.3047T>C (p.Leu1016Pro) c.2762T>C (p.Leu921Pro) c.1229T>C (p.Leu410Pro) n.1992T>C | |
17 | g.63496908T>G | CA400567407 | ACE | c.3614T>G (p.Leu1205Arg) c.1892T>G (p.Leu631Arg) c.1769T>G (p.Leu590Arg) n.624T>G c.*1369T>G (n.*1369T>G) c.*1343T>G (n.*1343T>G) c.301T>G n.488T>G c.3065T>G (p.Leu1022Arg) c.1952T>G (p.Leu651Arg) c.3047T>G (p.Leu1016Arg) c.2762T>G (p.Leu921Arg) c.1229T>G (p.Leu410Arg) n.1992T>G | |
17 | g.63496909G>A | CA501342410 | ACE | c.3615G>A (p.Leu1205=) c.1893G>A (p.Leu631=) c.1770G>A (p.Leu590=) n.625G>A c.*1370G>A (n.*1370G>A) c.*1344G>A (n.*1344G>A) c.302G>A n.489G>A c.3066G>A (p.Leu1022=) c.1953G>A (p.Leu651=) c.3048G>A (p.Leu1016=) c.2763G>A (p.Leu921=) c.1230G>A (p.Leu410=) n.1993G>A | |
17 | g.63496909G>C | CA501342411 | ACE | c.3615G>C (p.Leu1205=) c.1893G>C (p.Leu631=) c.1770G>C (p.Leu590=) n.625G>C c.*1370G>C (n.*1370G>C) c.*1344G>C (n.*1344G>C) c.302G>C n.489G>C c.3066G>C (p.Leu1022=) c.1953G>C (p.Leu651=) c.3048G>C (p.Leu1016=) c.2763G>C (p.Leu921=) c.1230G>C (p.Leu410=) n.1993G>C | |
17 | g.63496909G>T | CA501342412 | ACE | c.3615G>T (p.Leu1205=) c.1893G>T (p.Leu631=) c.1770G>T (p.Leu590=) n.625G>T c.*1370G>T (n.*1370G>T) c.*1344G>T (n.*1344G>T) c.302G>T n.489G>T c.3066G>T (p.Leu1022=) c.1953G>T (p.Leu651=) c.3048G>T (p.Leu1016=) c.2763G>T (p.Leu921=) c.1230G>T (p.Leu410=) n.1993G>T | |
17 | g.63496910G>A | CA400567411 | ACE | c.3616G>A (p.Asp1206Asn) c.1894G>A (p.Asp632Asn) c.1771G>A (p.Asp591Asn) n.626G>A c.*1371G>A (n.*1371G>A) c.*1345G>A (n.*1345G>A) c.303G>A n.490G>A c.3067G>A (p.Asp1023Asn) c.1954G>A (p.Asp652Asn) c.3049G>A (p.Asp1017Asn) c.2764G>A (p.Asp922Asn) c.1231G>A (p.Asp411Asn) n.1994G>A | |
17 | g.63496910G>C | CA400567412 | ACE | c.3616G>C (p.Asp1206His) c.1894G>C (p.Asp632His) c.1771G>C (p.Asp591His) n.626G>C c.*1371G>C (n.*1371G>C) c.*1345G>C (n.*1345G>C) c.303G>C n.490G>C c.3067G>C (p.Asp1023His) c.1954G>C (p.Asp652His) c.3049G>C (p.Asp1017His) c.2764G>C (p.Asp922His) c.1231G>C (p.Asp411His) n.1994G>C | |
17 | g.63496910G= | CA2269949799 | ACE | c.3616G= (p.Asp1206=) c.1894G= (p.Asp632=) c.1771G= (p.Asp591=) n.626G= c.*1371G= (n.*1371G=) c.*1345G= (n.*1345G=) c.303G= n.490G= c.3067G= (p.Asp1023=) c.1954G= (p.Asp652=) c.3049G= (p.Asp1017=) c.2764G= (p.Asp922=) c.1231G= (p.Asp411=) n.1994G= | |
17 | g.63496910G>T | CA400567410 | ACE | c.3616G>T (p.Asp1206Tyr) c.1894G>T (p.Asp632Tyr) c.1771G>T (p.Asp591Tyr) n.626G>T c.*1371G>T (n.*1371G>T) c.*1345G>T (n.*1345G>T) c.303G>T n.490G>T c.3067G>T (p.Asp1023Tyr) c.1954G>T (p.Asp652Tyr) c.3049G>T (p.Asp1017Tyr) c.2764G>T (p.Asp922Tyr) c.1231G>T (p.Asp411Tyr) n.1994G>T | dbSNP |
17 | g.63496911A= | CA2269949800 | ACE | c.3617A= (p.Asp1206=) c.1895A= (p.Asp632=) c.1772A= (p.Asp591=) n.627A= c.*1372A= (n.*1372A=) c.*1346A= (n.*1346A=) c.304A= n.491A= c.3068A= (p.Asp1023=) c.1955A= (p.Asp652=) c.3050A= (p.Asp1017=) c.2765A= (p.Asp922=) c.1232A= (p.Asp411=) n.1995A= | |
17 | g.63496911A>C | CA400567415 | ACE | c.3617A>C (p.Asp1206Ala) c.1895A>C (p.Asp632Ala) c.1772A>C (p.Asp591Ala) n.627A>C c.*1372A>C (n.*1372A>C) c.*1346A>C (n.*1346A>C) c.304A>C n.491A>C c.3068A>C (p.Asp1023Ala) c.1955A>C (p.Asp652Ala) c.3050A>C (p.Asp1017Ala) c.2765A>C (p.Asp922Ala) c.1232A>C (p.Asp411Ala) n.1995A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496911A>G | CA400567417 | ACE | c.3617A>G (p.Asp1206Gly) c.1895A>G (p.Asp632Gly) c.1772A>G (p.Asp591Gly) n.627A>G c.*1372A>G (n.*1372A>G) c.*1346A>G (n.*1346A>G) c.304A>G n.491A>G c.3068A>G (p.Asp1023Gly) c.1955A>G (p.Asp652Gly) c.3050A>G (p.Asp1017Gly) c.2765A>G (p.Asp922Gly) c.1232A>G (p.Asp411Gly) n.1995A>G | |
17 | g.63496911A>T | CA400567420 | ACE | c.3617A>T (p.Asp1206Val) c.1895A>T (p.Asp632Val) c.1772A>T (p.Asp591Val) n.627A>T c.*1372A>T (n.*1372A>T) c.*1346A>T (n.*1346A>T) c.304A>T n.491A>T c.3068A>T (p.Asp1023Val) c.1955A>T (p.Asp652Val) c.3050A>T (p.Asp1017Val) c.2765A>T (p.Asp922Val) c.1232A>T (p.Asp411Val) n.1995A>T | |
17 | g.63496912C>A | CA400567424 | ACE | c.3618C>A (p.Asp1206Glu) c.1896C>A (p.Asp632Glu) c.1773C>A (p.Asp591Glu) n.628C>A c.*1373C>A (n.*1373C>A) c.*1347C>A (n.*1347C>A) c.305C>A n.492C>A c.3069C>A (p.Asp1023Glu) c.1956C>A (p.Asp652Glu) c.3051C>A (p.Asp1017Glu) c.2766C>A (p.Asp922Glu) c.1233C>A (p.Asp411Glu) n.1996C>A | |
17 | g.63496912C= | CA2269949801 | ACE | c.3618C= (p.Asp1206=) c.1896C= (p.Asp632=) c.1773C= (p.Asp591=) n.628C= c.*1373C= (n.*1373C=) c.*1347C= (n.*1347C=) c.305C= n.492C= c.3069C= (p.Asp1023=) c.1956C= (p.Asp652=) c.3051C= (p.Asp1017=) c.2766C= (p.Asp922=) c.1233C= (p.Asp411=) n.1996C= | |
17 | g.63496912C>G | CA400567427 | ACE | c.3618C>G (p.Asp1206Glu) c.1896C>G (p.Asp632Glu) c.1773C>G (p.Asp591Glu) n.628C>G c.*1373C>G (n.*1373C>G) c.*1347C>G (n.*1347C>G) c.305C>G n.492C>G c.3069C>G (p.Asp1023Glu) c.1956C>G (p.Asp652Glu) c.3051C>G (p.Asp1017Glu) c.2766C>G (p.Asp922Glu) c.1233C>G (p.Asp411Glu) n.1996C>G | COSMIC COSMIC COSMIC |
17 | g.63496912C>T | CA501342414 | ACE | c.3618C>T (p.Asp1206=) c.1896C>T (p.Asp632=) c.1773C>T (p.Asp591=) n.628C>T c.*1373C>T (n.*1373C>T) c.*1347C>T (n.*1347C>T) c.305C>T n.492C>T c.3069C>T (p.Asp1023=) c.1956C>T (p.Asp652=) c.3051C>T (p.Asp1017=) c.2766C>T (p.Asp922=) c.1233C>T (p.Asp411=) n.1996C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63496913T>A | CA400567431 | ACE | c.3619T>A (p.Trp1207Arg) c.1897T>A (p.Trp633Arg) c.1774T>A (p.Trp592Arg) n.629T>A c.*1374T>A (n.*1374T>A) c.*1348T>A (n.*1348T>A) c.306T>A n.493T>A c.3070T>A (p.Trp1024Arg) c.1957T>A (p.Trp653Arg) c.3052T>A (p.Trp1018Arg) c.2767T>A (p.Trp923Arg) c.1234T>A (p.Trp412Arg) n.1997T>A | |
17 | g.63496913T>C | CA400567434 | ACE | c.3619T>C (p.Trp1207Arg) c.1897T>C (p.Trp633Arg) c.1774T>C (p.Trp592Arg) n.629T>C c.*1374T>C (n.*1374T>C) c.*1348T>C (n.*1348T>C) c.306T>C n.493T>C c.3070T>C (p.Trp1024Arg) c.1957T>C (p.Trp653Arg) c.3052T>C (p.Trp1018Arg) c.2767T>C (p.Trp923Arg) c.1234T>C (p.Trp412Arg) n.1997T>C | |
17 | g.63496913T>G | CA400567438 | ACE | c.3619T>G (p.Trp1207Gly) c.1897T>G (p.Trp633Gly) c.1774T>G (p.Trp592Gly) n.629T>G c.*1374T>G (n.*1374T>G) c.*1348T>G (n.*1348T>G) c.306T>G n.493T>G c.3070T>G (p.Trp1024Gly) c.1957T>G (p.Trp653Gly) c.3052T>G (p.Trp1018Gly) c.2767T>G (p.Trp923Gly) c.1234T>G (p.Trp412Gly) n.1997T>G | |
17 | g.63496914G>A | CA400567441 | ACE | c.3620G>A (p.Trp1207Ter) c.1898G>A (p.Trp633Ter) c.1775G>A (p.Trp592Ter) n.630G>A c.*1375G>A (n.*1375G>A) c.*1349G>A (n.*1349G>A) c.307G>A n.494G>A c.3071G>A (p.Trp1024Ter) c.1958G>A (p.Trp653Ter) c.3053G>A (p.Trp1018Ter) c.2768G>A (p.Trp923Ter) c.1235G>A (p.Trp412Ter) n.1998G>A | |
17 | g.63496914G>C | CA400567444 | ACE | c.3620G>C (p.Trp1207Ser) c.1898G>C (p.Trp633Ser) c.1775G>C (p.Trp592Ser) n.630G>C c.*1375G>C (n.*1375G>C) c.*1349G>C (n.*1349G>C) c.307G>C n.494G>C c.3071G>C (p.Trp1024Ser) c.1958G>C (p.Trp653Ser) c.3053G>C (p.Trp1018Ser) c.2768G>C (p.Trp923Ser) c.1235G>C (p.Trp412Ser) n.1998G>C | |
17 | g.63496914G>T | CA400567445 | ACE | c.3620G>T (p.Trp1207Leu) c.1898G>T (p.Trp633Leu) c.1775G>T (p.Trp592Leu) n.630G>T c.*1375G>T (n.*1375G>T) c.*1349G>T (n.*1349G>T) c.307G>T n.494G>T c.3071G>T (p.Trp1024Leu) c.1958G>T (p.Trp653Leu) c.3053G>T (p.Trp1018Leu) c.2768G>T (p.Trp923Leu) c.1235G>T (p.Trp412Leu) n.1998G>T | |
17 | g.63496915G>A | CA400567458 | ACE | c.3621G>A (p.Trp1207Ter) c.1899G>A (p.Trp633Ter) c.1776G>A (p.Trp592Ter) n.631G>A c.*1376G>A (n.*1376G>A) c.*1350G>A (n.*1350G>A) c.308G>A n.495G>A c.3072G>A (p.Trp1024Ter) c.1959G>A (p.Trp653Ter) c.3054G>A (p.Trp1018Ter) c.2769G>A (p.Trp923Ter) c.1236G>A (p.Trp412Ter) n.1999G>A | |
17 | g.63496915G>C | CA400567448 | ACE | c.3621G>C (p.Trp1207Cys) c.1899G>C (p.Trp633Cys) c.1776G>C (p.Trp592Cys) n.631G>C c.*1376G>C (n.*1376G>C) c.*1350G>C (n.*1350G>C) c.308G>C n.495G>C c.3072G>C (p.Trp1024Cys) c.1959G>C (p.Trp653Cys) c.3054G>C (p.Trp1018Cys) c.2769G>C (p.Trp923Cys) c.1236G>C (p.Trp412Cys) n.1999G>C | dbSNP |
17 | g.63496915G= | CA2269949802 | ACE | c.3621G= (p.Trp1207=) c.1899G= (p.Trp633=) c.1776G= (p.Trp592=) n.631G= c.*1376G= (n.*1376G=) c.*1350G= (n.*1350G=) c.308G= n.495G= c.3072G= (p.Trp1024=) c.1959G= (p.Trp653=) c.3054G= (p.Trp1018=) c.2769G= (p.Trp923=) c.1236G= (p.Trp412=) n.1999G= | |
17 | g.63496915G>T | CA400567446 | ACE | c.3621G>T (p.Trp1207Cys) c.1899G>T (p.Trp633Cys) c.1776G>T (p.Trp592Cys) n.631G>T c.*1376G>T (n.*1376G>T) c.*1350G>T (n.*1350G>T) c.308G>T n.495G>T c.3072G>T (p.Trp1024Cys) c.1959G>T (p.Trp653Cys) c.3054G>T (p.Trp1018Cys) c.2769G>T (p.Trp923Cys) c.1236G>T (p.Trp412Cys) n.1999G>T | |
17 | g.63496916C>A | CA400567461 | ACE | c.3622C>A (p.Leu1208Ile) c.1900C>A (p.Leu634Ile) c.1777C>A (p.Leu593Ile) n.632C>A c.*1377C>A (n.*1377C>A) c.*1351C>A (n.*1351C>A) c.309C>A n.496C>A c.3073C>A (p.Leu1025Ile) c.1960C>A (p.Leu654Ile) c.3055C>A (p.Leu1019Ile) c.2770C>A (p.Leu924Ile) c.1237C>A (p.Leu413Ile) n.2000C>A | |
17 | g.63496916C>G | CA400567463 | ACE | c.3622C>G (p.Leu1208Val) c.1900C>G (p.Leu634Val) c.1777C>G (p.Leu593Val) n.632C>G c.*1377C>G (n.*1377C>G) c.*1351C>G (n.*1351C>G) c.309C>G n.496C>G c.3073C>G (p.Leu1025Val) c.1960C>G (p.Leu654Val) c.3055C>G (p.Leu1019Val) c.2770C>G (p.Leu924Val) c.1237C>G (p.Leu413Val) n.2000C>G | |
17 | g.63496916C>T | CA400567465 | ACE | c.3622C>T (p.Leu1208Phe) c.1900C>T (p.Leu634Phe) c.1777C>T (p.Leu593Phe) n.632C>T c.*1377C>T (n.*1377C>T) c.*1351C>T (n.*1351C>T) c.309C>T n.496C>T c.3073C>T (p.Leu1025Phe) c.1960C>T (p.Leu654Phe) c.3055C>T (p.Leu1019Phe) c.2770C>T (p.Leu924Phe) c.1237C>T (p.Leu413Phe) n.2000C>T | gnomAD v4 |
17 | g.63496917T>A | CA400567467 | ACE | c.3623T>A (p.Leu1208His) c.1901T>A (p.Leu634His) c.1778T>A (p.Leu593His) n.633T>A c.*1378T>A (n.*1378T>A) c.*1352T>A (n.*1352T>A) c.310T>A n.497T>A c.3074T>A (p.Leu1025His) c.1961T>A (p.Leu654His) c.3056T>A (p.Leu1019His) c.2771T>A (p.Leu924His) c.1238T>A (p.Leu413His) n.2001T>A | |
17 | g.63496917T>C | CA400567469 | ACE | c.3623T>C (p.Leu1208Pro) c.1901T>C (p.Leu634Pro) c.1778T>C (p.Leu593Pro) n.633T>C c.*1378T>C (n.*1378T>C) c.*1352T>C (n.*1352T>C) c.310T>C n.497T>C c.3074T>C (p.Leu1025Pro) c.1961T>C (p.Leu654Pro) c.3056T>C (p.Leu1019Pro) c.2771T>C (p.Leu924Pro) c.1238T>C (p.Leu413Pro) n.2001T>C | ClinVar dbSNP |
17 | g.63496917T>G | CA400567471 | ACE | c.3623T>G (p.Leu1208Arg) c.1901T>G (p.Leu634Arg) c.1778T>G (p.Leu593Arg) n.633T>G c.*1378T>G (n.*1378T>G) c.*1352T>G (n.*1352T>G) c.310T>G n.497T>G c.3074T>G (p.Leu1025Arg) c.1961T>G (p.Leu654Arg) c.3056T>G (p.Leu1019Arg) c.2771T>G (p.Leu924Arg) c.1238T>G (p.Leu413Arg) n.2001T>G | |
17 | g.63496917T= | CA2269949803 | ACE | c.3623T= (p.Leu1208=) c.1901T= (p.Leu634=) c.1778T= (p.Leu593=) n.633T= c.*1378T= (n.*1378T=) c.*1352T= (n.*1352T=) c.310T= n.497T= c.3074T= (p.Leu1025=) c.1961T= (p.Leu654=) c.3056T= (p.Leu1019=) c.2771T= (p.Leu924=) c.1238T= (p.Leu413=) n.2001T= | |
17 | g.63496918C>A | CA501342420 | ACE | c.3624C>A (p.Leu1208=) c.1902C>A (p.Leu634=) c.1779C>A (p.Leu593=) n.634C>A c.*1379C>A (n.*1379C>A) c.*1353C>A (n.*1353C>A) c.311C>A n.498C>A c.3075C>A (p.Leu1025=) c.1962C>A (p.Leu654=) c.3057C>A (p.Leu1019=) c.2772C>A (p.Leu924=) c.1239C>A (p.Leu413=) n.2002C>A | |
17 | g.63496918C>G | CA501342421 | ACE | c.3624C>G (p.Leu1208=) c.1902C>G (p.Leu634=) c.1779C>G (p.Leu593=) n.634C>G c.*1379C>G (n.*1379C>G) c.*1353C>G (n.*1353C>G) c.311C>G n.498C>G c.3075C>G (p.Leu1025=) c.1962C>G (p.Leu654=) c.3057C>G (p.Leu1019=) c.2772C>G (p.Leu924=) c.1239C>G (p.Leu413=) n.2002C>G | |
17 | g.63496918C>T | CA501342422 | ACE | c.3624C>T (p.Leu1208=) c.1902C>T (p.Leu634=) c.1779C>T (p.Leu593=) n.634C>T c.*1379C>T (n.*1379C>T) c.*1353C>T (n.*1353C>T) c.311C>T n.498C>T c.3075C>T (p.Leu1025=) c.1962C>T (p.Leu654=) c.3057C>T (p.Leu1019=) c.2772C>T (p.Leu924=) c.1239C>T (p.Leu413=) n.2002C>T | gnomAD v4 |
17 | g.63496919C>A | CA400567474 | ACE | c.3625C>A (p.Arg1209Ser) c.1903C>A (p.Arg635Ser) c.1780C>A (p.Arg594Ser) n.635C>A c.*1380C>A (n.*1380C>A) c.*1354C>A (n.*1354C>A) c.312C>A n.499C>A c.3076C>A (p.Arg1026Ser) c.1963C>A (p.Arg655Ser) c.3058C>A (p.Arg1020Ser) c.2773C>A (p.Arg925Ser) c.1240C>A (p.Arg414Ser) n.2003C>A | |
17 | g.63496919C= | CA2269949804 | ACE | c.3625C= (p.Arg1209=) c.1903C= (p.Arg635=) c.1780C= (p.Arg594=) n.635C= c.*1380C= (n.*1380C=) c.*1354C= (n.*1354C=) c.312C= n.499C= c.3076C= (p.Arg1026=) c.1963C= (p.Arg655=) c.3058C= (p.Arg1020=) c.2773C= (p.Arg925=) c.1240C= (p.Arg414=) n.2003C= | |
17 | g.63496919C>G | CA400567476 | ACE | c.3625C>G (p.Arg1209Gly) c.1903C>G (p.Arg635Gly) c.1780C>G (p.Arg594Gly) n.635C>G c.*1380C>G (n.*1380C>G) c.*1354C>G (n.*1354C>G) c.312C>G n.499C>G c.3076C>G (p.Arg1026Gly) c.1963C>G (p.Arg655Gly) c.3058C>G (p.Arg1020Gly) c.2773C>G (p.Arg925Gly) c.1240C>G (p.Arg414Gly) n.2003C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63496919C>T | CA400567478 | ACE | c.3625C>T (p.Arg1209Cys) c.1903C>T (p.Arg635Cys) c.1780C>T (p.Arg594Cys) n.635C>T c.*1380C>T (n.*1380C>T) c.*1354C>T (n.*1354C>T) c.312C>T n.499C>T c.3076C>T (p.Arg1026Cys) c.1963C>T (p.Arg655Cys) c.3058C>T (p.Arg1020Cys) c.2773C>T (p.Arg925Cys) c.1240C>T (p.Arg414Cys) n.2003C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496920G>A | CA8700567 | ACE | c.3626G>A (p.Arg1209His) c.1904G>A (p.Arg635His) c.1781G>A (p.Arg594His) n.636G>A c.*1381G>A (n.*1381G>A) c.*1355G>A (n.*1355G>A) c.313G>A n.500G>A c.3077G>A (p.Arg1026His) c.1964G>A (p.Arg655His) c.3059G>A (p.Arg1020His) c.2774G>A (p.Arg925His) c.1241G>A (p.Arg414His) n.2004G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.63496920G>C | CA8700568 | ACE | c.3626G>C (p.Arg1209Pro) c.1904G>C (p.Arg635Pro) c.1781G>C (p.Arg594Pro) n.636G>C c.*1381G>C (n.*1381G>C) c.*1355G>C (n.*1355G>C) c.313G>C n.500G>C c.3077G>C (p.Arg1026Pro) c.1964G>C (p.Arg655Pro) c.3059G>C (p.Arg1020Pro) c.2774G>C (p.Arg925Pro) c.1241G>C (p.Arg414Pro) n.2004G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63496920G= | CA2269949805 | ACE | c.3626G= (p.Arg1209=) c.1904G= (p.Arg635=) c.1781G= (p.Arg594=) n.636G= c.*1381G= (n.*1381G=) c.*1355G= (n.*1355G=) c.313G= n.500G= c.3077G= (p.Arg1026=) c.1964G= (p.Arg655=) c.3059G= (p.Arg1020=) c.2774G= (p.Arg925=) c.1241G= (p.Arg414=) n.2004G= | |
17 | g.63496920G>T | CA400567483 | ACE | c.3626G>T (p.Arg1209Leu) c.1904G>T (p.Arg635Leu) c.1781G>T (p.Arg594Leu) n.636G>T c.*1381G>T (n.*1381G>T) c.*1355G>T (n.*1355G>T) c.313G>T n.500G>T c.3077G>T (p.Arg1026Leu) c.1964G>T (p.Arg655Leu) c.3059G>T (p.Arg1020Leu) c.2774G>T (p.Arg925Leu) c.1241G>T (p.Arg414Leu) n.2004G>T | COSMIC COSMIC COSMIC |
17 | g.63496921C>A | CA501342427 | ACE | c.3627C>A (p.Arg1209=) c.1905C>A (p.Arg635=) c.1782C>A (p.Arg594=) n.637C>A c.*1382C>A (n.*1382C>A) c.*1356C>A (n.*1356C>A) c.314C>A n.501C>A c.3078C>A (p.Arg1026=) c.1965C>A (p.Arg655=) c.3060C>A (p.Arg1020=) c.2775C>A (p.Arg925=) c.1242C>A (p.Arg414=) n.2005C>A | |
17 | g.63496921C>G | CA501342428 | ACE | c.3627C>G (p.Arg1209=) c.1905C>G (p.Arg635=) c.1782C>G (p.Arg594=) n.637C>G c.*1382C>G (n.*1382C>G) c.*1356C>G (n.*1356C>G) c.314C>G n.501C>G c.3078C>G (p.Arg1026=) c.1965C>G (p.Arg655=) c.3060C>G (p.Arg1020=) c.2775C>G (p.Arg925=) c.1242C>G (p.Arg414=) n.2005C>G | |
17 | g.63496921C>T | CA501342426 | ACE | c.3627C>T (p.Arg1209=) c.1905C>T (p.Arg635=) c.1782C>T (p.Arg594=) n.637C>T c.*1382C>T (n.*1382C>T) c.*1356C>T (n.*1356C>T) c.314C>T n.501C>T c.3078C>T (p.Arg1026=) c.1965C>T (p.Arg655=) c.3060C>T (p.Arg1020=) c.2775C>T (p.Arg925=) c.1242C>T (p.Arg414=) n.2005C>T | |
17 | g.63496922A= | CA2269949806 | ACE | c.3628A= (p.Thr1210=) c.1906A= (p.Thr636=) c.1783A= (p.Thr595=) n.638A= c.*1383A= (n.*1383A=) c.*1357A= (n.*1357A=) c.315A= n.502A= c.3079A= (p.Thr1027=) c.1966A= (p.Thr656=) c.3061A= (p.Thr1021=) c.2776A= (p.Thr926=) c.1243A= (p.Thr415=) n.2006A= | |
17 | g.63496922A>C | CA400567485 | ACE | c.3628A>C (p.Thr1210Pro) c.1906A>C (p.Thr636Pro) c.1783A>C (p.Thr595Pro) n.638A>C c.*1383A>C (n.*1383A>C) c.*1357A>C (n.*1357A>C) c.315A>C n.502A>C c.3079A>C (p.Thr1027Pro) c.1966A>C (p.Thr656Pro) c.3061A>C (p.Thr1021Pro) c.2776A>C (p.Thr926Pro) c.1243A>C (p.Thr415Pro) n.2006A>C | |
17 | g.63496922A>G | CA400567489 | ACE | c.3628A>G (p.Thr1210Ala) c.1906A>G (p.Thr636Ala) c.1783A>G (p.Thr595Ala) n.638A>G c.*1383A>G (n.*1383A>G) c.*1357A>G (n.*1357A>G) c.315A>G n.502A>G c.3079A>G (p.Thr1027Ala) c.1966A>G (p.Thr656Ala) c.3061A>G (p.Thr1021Ala) c.2776A>G (p.Thr926Ala) c.1243A>G (p.Thr415Ala) n.2006A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63496922A>T | CA400567487 | ACE | c.3628A>T (p.Thr1210Ser) c.1906A>T (p.Thr636Ser) c.1783A>T (p.Thr595Ser) n.638A>T c.*1383A>T (n.*1383A>T) c.*1357A>T (n.*1357A>T) c.315A>T n.502A>T c.3079A>T (p.Thr1027Ser) c.1966A>T (p.Thr656Ser) c.3061A>T (p.Thr1021Ser) c.2776A>T (p.Thr926Ser) c.1243A>T (p.Thr415Ser) n.2006A>T | |
17 | g.63496923C>A | CA400567491 | ACE | c.3629C>A (p.Thr1210Lys) c.1907C>A (p.Thr636Lys) c.1784C>A (p.Thr595Lys) n.639C>A c.*1384C>A (n.*1384C>A) c.*1358C>A (n.*1358C>A) c.316C>A n.503C>A c.3080C>A (p.Thr1027Lys) c.1967C>A (p.Thr656Lys) c.3062C>A (p.Thr1021Lys) c.2777C>A (p.Thr926Lys) c.1244C>A (p.Thr415Lys) n.2007C>A | gnomAD v4 |
17 | g.63496923C= | CA2269949807 | ACE | c.3629C= (p.Thr1210=) c.1907C= (p.Thr636=) c.1784C= (p.Thr595=) n.639C= c.*1384C= (n.*1384C=) c.*1358C= (n.*1358C=) c.316C= n.503C= c.3080C= (p.Thr1027=) c.1967C= (p.Thr656=) c.3062C= (p.Thr1021=) c.2777C= (p.Thr926=) c.1244C= (p.Thr415=) n.2007C= | |
17 | g.63496923C>G | CA8700570 | ACE | c.3629C>G (p.Thr1210Arg) c.1907C>G (p.Thr636Arg) c.1784C>G (p.Thr595Arg) n.639C>G c.*1384C>G (n.*1384C>G) c.*1358C>G (n.*1358C>G) c.316C>G n.503C>G c.3080C>G (p.Thr1027Arg) c.1967C>G (p.Thr656Arg) c.3062C>G (p.Thr1021Arg) c.2777C>G (p.Thr926Arg) c.1244C>G (p.Thr415Arg) n.2007C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63496923C>T | CA8700569 | ACE | c.3629C>T (p.Thr1210Met) c.1907C>T (p.Thr636Met) c.1784C>T (p.Thr595Met) n.639C>T c.*1384C>T (n.*1384C>T) c.*1358C>T (n.*1358C>T) c.316C>T n.503C>T c.3080C>T (p.Thr1027Met) c.1967C>T (p.Thr656Met) c.3062C>T (p.Thr1021Met) c.2777C>T (p.Thr926Met) c.1244C>T (p.Thr415Met) n.2007C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496924G>A | CA8700571 | ACE | c.3630G>A (p.Thr1210=) c.1908G>A (p.Thr636=) c.1785G>A (p.Thr595=) n.640G>A c.*1385G>A (n.*1385G>A) c.*1359G>A (n.*1359G>A) c.317G>A n.504G>A c.3081G>A (p.Thr1027=) c.1968G>A (p.Thr656=) c.3063G>A (p.Thr1021=) c.2778G>A (p.Thr926=) c.1245G>A (p.Thr415=) n.2008G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496924G>C | CA501342429 | ACE | c.3630G>C (p.Thr1210=) c.1908G>C (p.Thr636=) c.1785G>C (p.Thr595=) n.640G>C c.*1385G>C (n.*1385G>C) c.*1359G>C (n.*1359G>C) c.317G>C n.504G>C c.3081G>C (p.Thr1027=) c.1968G>C (p.Thr656=) c.3063G>C (p.Thr1021=) c.2778G>C (p.Thr926=) c.1245G>C (p.Thr415=) n.2008G>C | ClinVar dbSNP |
17 | g.63496924G= | CA2269949808 | ACE | c.3630G= (p.Thr1210=) c.1908G= (p.Thr636=) c.1785G= (p.Thr595=) n.640G= c.*1385G= (n.*1385G=) c.*1359G= (n.*1359G=) c.317G= n.504G= c.3081G= (p.Thr1027=) c.1968G= (p.Thr656=) c.3063G= (p.Thr1021=) c.2778G= (p.Thr926=) c.1245G= (p.Thr415=) n.2008G= | |
17 | g.63496924G>T | CA501342430 | ACE | c.3630G>T (p.Thr1210=) c.1908G>T (p.Thr636=) c.1785G>T (p.Thr595=) n.640G>T c.*1385G>T (n.*1385G>T) c.*1359G>T (n.*1359G>T) c.317G>T n.504G>T c.3081G>T (p.Thr1027=) c.1968G>T (p.Thr656=) c.3063G>T (p.Thr1021=) c.2778G>T (p.Thr926=) c.1245G>T (p.Thr415=) n.2008G>T | gnomAD v4 |
17 | g.63496925G>A | CA8700572 | ACE | c.3631G>A (p.Glu1211Lys) c.1909G>A (p.Glu637Lys) c.1786G>A (p.Glu596Lys) n.641G>A c.*1386G>A (n.*1386G>A) c.*1360G>A (n.*1360G>A) c.318G>A n.505G>A c.3082G>A (p.Glu1028Lys) c.1969G>A (p.Glu657Lys) c.3064G>A (p.Glu1022Lys) c.2779G>A (p.Glu927Lys) c.1246G>A (p.Glu416Lys) n.2009G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63496925G>C | CA400567496 | ACE | c.3631G>C (p.Glu1211Gln) c.1909G>C (p.Glu637Gln) c.1786G>C (p.Glu596Gln) n.641G>C c.*1386G>C (n.*1386G>C) c.*1360G>C (n.*1360G>C) c.318G>C n.505G>C c.3082G>C (p.Glu1028Gln) c.1969G>C (p.Glu657Gln) c.3064G>C (p.Glu1022Gln) c.2779G>C (p.Glu927Gln) c.1246G>C (p.Glu416Gln) n.2009G>C | |
17 | g.63496925G= | CA2269949809 | ACE | c.3631G= (p.Glu1211=) c.1909G= (p.Glu637=) c.1786G= (p.Glu596=) n.641G= c.*1386G= (n.*1386G=) c.*1360G= (n.*1360G=) c.318G= n.505G= c.3082G= (p.Glu1028=) c.1969G= (p.Glu657=) c.3064G= (p.Glu1022=) c.2779G= (p.Glu927=) c.1246G= (p.Glu416=) n.2009G= | |
17 | g.63496925G>T | CA400567498 | ACE | c.3631G>T (p.Glu1211Ter) c.1909G>T (p.Glu637Ter) c.1786G>T (p.Glu596Ter) n.641G>T c.*1386G>T (n.*1386G>T) c.*1360G>T (n.*1360G>T) c.318G>T n.505G>T c.3082G>T (p.Glu1028Ter) c.1969G>T (p.Glu657Ter) c.3064G>T (p.Glu1022Ter) c.2779G>T (p.Glu927Ter) c.1246G>T (p.Glu416Ter) n.2009G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63496926A= | CA2269949810 | ACE | c.3632A= (p.Glu1211=) c.1910A= (p.Glu637=) c.1787A= (p.Glu596=) n.642A= c.*1387A= (n.*1387A=) c.*1361A= (n.*1361A=) c.319A= n.506A= c.3083A= (p.Glu1028=) c.1970A= (p.Glu657=) c.3065A= (p.Glu1022=) c.2780A= (p.Glu927=) c.1247A= (p.Glu416=) n.2010A= | |
17 | g.63496926A>C | CA400567507 | ACE | c.3632A>C (p.Glu1211Ala) c.1910A>C (p.Glu637Ala) c.1787A>C (p.Glu596Ala) n.642A>C c.*1387A>C (n.*1387A>C) c.*1361A>C (n.*1361A>C) c.319A>C n.506A>C c.3083A>C (p.Glu1028Ala) c.1970A>C (p.Glu657Ala) c.3065A>C (p.Glu1022Ala) c.2780A>C (p.Glu927Ala) c.1247A>C (p.Glu416Ala) n.2010A>C | |
17 | g.63496926A>G | CA400567510 | ACE | c.3632A>G (p.Glu1211Gly) c.1910A>G (p.Glu637Gly) c.1787A>G (p.Glu596Gly) n.642A>G c.*1387A>G (n.*1387A>G) c.*1361A>G (n.*1361A>G) c.319A>G n.506A>G c.3083A>G (p.Glu1028Gly) c.1970A>G (p.Glu657Gly) c.3065A>G (p.Glu1022Gly) c.2780A>G (p.Glu927Gly) c.1247A>G (p.Glu416Gly) n.2010A>G | |
17 | g.63496926A>T | CA400567513 | ACE | c.3632A>T (p.Glu1211Val) c.1910A>T (p.Glu637Val) c.1787A>T (p.Glu596Val) n.642A>T c.*1387A>T (n.*1387A>T) c.*1361A>T (n.*1361A>T) c.319A>T n.506A>T c.3083A>T (p.Glu1028Val) c.1970A>T (p.Glu657Val) c.3065A>T (p.Glu1022Val) c.2780A>T (p.Glu927Val) c.1247A>T (p.Glu416Val) n.2010A>T | dbSNP gnomAD v4 |
17 | g.63496927G>A | CA501342433 | ACE | c.3633G>A (p.Glu1211=) c.1911G>A (p.Glu637=) c.1788G>A (p.Glu596=) n.643G>A c.*1388G>A (n.*1388G>A) c.*1362G>A (n.*1362G>A) c.320G>A n.507G>A c.3084G>A (p.Glu1028=) c.1971G>A (p.Glu657=) c.3066G>A (p.Glu1022=) c.2781G>A (p.Glu927=) c.1248G>A (p.Glu416=) n.2011G>A | dbSNP gnomAD v4 |
17 | g.63496927G>C | CA400567517 | ACE | c.3633G>C (p.Glu1211Asp) c.1911G>C (p.Glu637Asp) c.1788G>C (p.Glu596Asp) n.643G>C c.*1388G>C (n.*1388G>C) c.*1362G>C (n.*1362G>C) c.320G>C n.507G>C c.3084G>C (p.Glu1028Asp) c.1971G>C (p.Glu657Asp) c.3066G>C (p.Glu1022Asp) c.2781G>C (p.Glu927Asp) c.1248G>C (p.Glu416Asp) n.2011G>C | |
17 | g.63496927G= | CA2269949811 | ACE | c.3633G= (p.Glu1211=) c.1911G= (p.Glu637=) c.1788G= (p.Glu596=) n.643G= c.*1388G= (n.*1388G=) c.*1362G= (n.*1362G=) c.320G= n.507G= c.3084G= (p.Glu1028=) c.1971G= (p.Glu657=) c.3066G= (p.Glu1022=) c.2781G= (p.Glu927=) c.1248G= (p.Glu416=) n.2011G= | |
17 | g.63496927G>T | CA400567518 | ACE | c.3633G>T (p.Glu1211Asp) c.1911G>T (p.Glu637Asp) c.1788G>T (p.Glu596Asp) n.643G>T c.*1388G>T (n.*1388G>T) c.*1362G>T (n.*1362G>T) c.320G>T n.507G>T c.3084G>T (p.Glu1028Asp) c.1971G>T (p.Glu657Asp) c.3066G>T (p.Glu1022Asp) c.2781G>T (p.Glu927Asp) c.1248G>T (p.Glu416Asp) n.2011G>T | |
17 | g.63496928A= | CA2269949812 | ACE | c.3634A= (p.Asn1212=) c.1912A= (p.Asn638=) c.1789A= (p.Asn597=) n.644A= c.*1389A= (n.*1389A=) c.*1363A= (n.*1363A=) c.321A= n.508A= c.3085A= (p.Asn1029=) c.1972A= (p.Asn658=) c.3067A= (p.Asn1023=) c.2782A= (p.Asn928=) c.1249A= (p.Asn417=) n.2012A= | |
17 | g.63496928A>C | CA400567521 | ACE | c.3634A>C (p.Asn1212His) c.1912A>C (p.Asn638His) c.1789A>C (p.Asn597His) n.644A>C c.*1389A>C (n.*1389A>C) c.*1363A>C (n.*1363A>C) c.321A>C n.508A>C c.3085A>C (p.Asn1029His) c.1972A>C (p.Asn658His) c.3067A>C (p.Asn1023His) c.2782A>C (p.Asn928His) c.1249A>C (p.Asn417His) n.2012A>C | |
17 | g.63496928A>G | CA292890151 | ACE | c.3634A>G (p.Asn1212Asp) c.1912A>G (p.Asn638Asp) c.1789A>G (p.Asn597Asp) n.644A>G c.*1389A>G (n.*1389A>G) c.*1363A>G (n.*1363A>G) c.321A>G n.508A>G c.3085A>G (p.Asn1029Asp) c.1972A>G (p.Asn658Asp) c.3067A>G (p.Asn1023Asp) c.2782A>G (p.Asn928Asp) c.1249A>G (p.Asn417Asp) n.2012A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496928A>T | CA400567522 | ACE | c.3634A>T (p.Asn1212Tyr) c.1912A>T (p.Asn638Tyr) c.1789A>T (p.Asn597Tyr) n.644A>T c.*1389A>T (n.*1389A>T) c.*1363A>T (n.*1363A>T) c.321A>T n.508A>T c.3085A>T (p.Asn1029Tyr) c.1972A>T (p.Asn658Tyr) c.3067A>T (p.Asn1023Tyr) c.2782A>T (p.Asn928Tyr) c.1249A>T (p.Asn417Tyr) n.2012A>T | |
17 | g.63496929A= | CA2269949813 | ACE | c.3635A= (p.Asn1212=) c.1913A= (p.Asn638=) c.1790A= (p.Asn597=) n.645A= c.*1390A= (n.*1390A=) c.*1364A= (n.*1364A=) c.322A= n.509A= c.3086A= (p.Asn1029=) c.1973A= (p.Asn658=) c.3068A= (p.Asn1023=) c.2783A= (p.Asn928=) c.1250A= (p.Asn417=) n.2013A= | |
17 | g.63496929A>C | CA8700573 | ACE | c.3635A>C (p.Asn1212Thr) c.1913A>C (p.Asn638Thr) c.1790A>C (p.Asn597Thr) n.645A>C c.*1390A>C (n.*1390A>C) c.*1364A>C (n.*1364A>C) c.322A>C n.509A>C c.3086A>C (p.Asn1029Thr) c.1973A>C (p.Asn658Thr) c.3068A>C (p.Asn1023Thr) c.2783A>C (p.Asn928Thr) c.1250A>C (p.Asn417Thr) n.2013A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496929A>G | CA400567524 | ACE | c.3635A>G (p.Asn1212Ser) c.1913A>G (p.Asn638Ser) c.1790A>G (p.Asn597Ser) n.645A>G c.*1390A>G (n.*1390A>G) c.*1364A>G (n.*1364A>G) c.322A>G n.509A>G c.3086A>G (p.Asn1029Ser) c.1973A>G (p.Asn658Ser) c.3068A>G (p.Asn1023Ser) c.2783A>G (p.Asn928Ser) c.1250A>G (p.Asn417Ser) n.2013A>G | dbSNP gnomAD v4 |
17 | g.63496929A>T | CA400567527 | ACE | c.3635A>T (p.Asn1212Ile) c.1913A>T (p.Asn638Ile) c.1790A>T (p.Asn597Ile) n.645A>T c.*1390A>T (n.*1390A>T) c.*1364A>T (n.*1364A>T) c.322A>T n.509A>T c.3086A>T (p.Asn1029Ile) c.1973A>T (p.Asn658Ile) c.3068A>T (p.Asn1023Ile) c.2783A>T (p.Asn928Ile) c.1250A>T (p.Asn417Ile) n.2013A>T | |
17 | g.63496930C>A | CA400567530 | ACE | c.3636C>A (p.Asn1212Lys) c.1914C>A (p.Asn638Lys) c.1791C>A (p.Asn597Lys) n.646C>A c.*1391C>A (n.*1391C>A) c.*1365C>A (n.*1365C>A) c.323C>A n.510C>A c.3087C>A (p.Asn1029Lys) c.1974C>A (p.Asn658Lys) c.3069C>A (p.Asn1023Lys) c.2784C>A (p.Asn928Lys) c.1251C>A (p.Asn417Lys) n.2014C>A | |
17 | g.63496930C= | CA2269949814 | ACE | c.3636C= (p.Asn1212=) c.1914C= (p.Asn638=) c.1791C= (p.Asn597=) n.646C= c.*1391C= (n.*1391C=) c.*1365C= (n.*1365C=) c.323C= n.510C= c.3087C= (p.Asn1029=) c.1974C= (p.Asn658=) c.3069C= (p.Asn1023=) c.2784C= (p.Asn928=) c.1251C= (p.Asn417=) n.2014C= | |
17 | g.63496930C>G | CA400567534 | ACE | c.3636C>G (p.Asn1212Lys) c.1914C>G (p.Asn638Lys) c.1791C>G (p.Asn597Lys) n.646C>G c.*1391C>G (n.*1391C>G) c.*1365C>G (n.*1365C>G) c.323C>G n.510C>G c.3087C>G (p.Asn1029Lys) c.1974C>G (p.Asn658Lys) c.3069C>G (p.Asn1023Lys) c.2784C>G (p.Asn928Lys) c.1251C>G (p.Asn417Lys) n.2014C>G | |
17 | g.63496930C>T | CA501342438 | ACE | c.3636C>T (p.Asn1212=) c.1914C>T (p.Asn638=) c.1791C>T (p.Asn597=) n.646C>T c.*1391C>T (n.*1391C>T) c.*1365C>T (n.*1365C>T) c.323C>T n.510C>T c.3087C>T (p.Asn1029=) c.1974C>T (p.Asn658=) c.3069C>T (p.Asn1023=) c.2784C>T (p.Asn928=) c.1251C>T (p.Asn417=) n.2014C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496931G>A | CA8700574 | ACE | c.3637G>A (p.Glu1213Lys) c.1915G>A (p.Glu639Lys) c.1792G>A (p.Glu598Lys) n.647G>A c.*1392G>A (n.*1392G>A) c.*1366G>A (n.*1366G>A) c.324G>A n.511G>A c.3088G>A (p.Glu1030Lys) c.1975G>A (p.Glu659Lys) c.3070G>A (p.Glu1024Lys) c.2785G>A (p.Glu929Lys) c.1252G>A (p.Glu418Lys) n.2015G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496931G>C | CA400567540 | ACE | c.3637G>C (p.Glu1213Gln) c.1915G>C (p.Glu639Gln) c.1792G>C (p.Glu598Gln) n.647G>C c.*1392G>C (n.*1392G>C) c.*1366G>C (n.*1366G>C) c.324G>C n.511G>C c.3088G>C (p.Glu1030Gln) c.1975G>C (p.Glu659Gln) c.3070G>C (p.Glu1024Gln) c.2785G>C (p.Glu929Gln) c.1252G>C (p.Glu418Gln) n.2015G>C | gnomAD v4 |
17 | g.63496931G= | CA2269949815 | ACE | c.3637G= (p.Glu1213=) c.1915G= (p.Glu639=) c.1792G= (p.Glu598=) n.647G= c.*1392G= (n.*1392G=) c.*1366G= (n.*1366G=) c.324G= n.511G= c.3088G= (p.Glu1030=) c.1975G= (p.Glu659=) c.3070G= (p.Glu1024=) c.2785G= (p.Glu929=) c.1252G= (p.Glu418=) n.2015G= | |
17 | g.63496931G>T | CA400567543 | ACE | c.3637G>T (p.Glu1213Ter) c.1915G>T (p.Glu639Ter) c.1792G>T (p.Glu598Ter) n.647G>T c.*1392G>T (n.*1392G>T) c.*1366G>T (n.*1366G>T) c.324G>T n.511G>T c.3088G>T (p.Glu1030Ter) c.1975G>T (p.Glu659Ter) c.3070G>T (p.Glu1024Ter) c.2785G>T (p.Glu929Ter) c.1252G>T (p.Glu418Ter) n.2015G>T | gnomAD v4 |
17 | g.63496932A= | CA2269949816 | ACE | c.3638A= (p.Glu1213=) c.1916A= (p.Glu639=) c.1793A= (p.Glu598=) n.648A= c.*1393A= (n.*1393A=) c.*1367A= (n.*1367A=) c.325A= n.512A= c.3089A= (p.Glu1030=) c.1976A= (p.Glu659=) c.3071A= (p.Glu1024=) c.2786A= (p.Glu929=) c.1253A= (p.Glu418=) n.2016A= | |
17 | g.63496932A>C | CA400567546 | ACE | c.3638A>C (p.Glu1213Ala) c.1916A>C (p.Glu639Ala) c.1793A>C (p.Glu598Ala) n.648A>C c.*1393A>C (n.*1393A>C) c.*1367A>C (n.*1367A>C) c.325A>C n.512A>C c.3089A>C (p.Glu1030Ala) c.1976A>C (p.Glu659Ala) c.3071A>C (p.Glu1024Ala) c.2786A>C (p.Glu929Ala) c.1253A>C (p.Glu418Ala) n.2016A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63496932A>G | CA400567549 | ACE | c.3638A>G (p.Glu1213Gly) c.1916A>G (p.Glu639Gly) c.1793A>G (p.Glu598Gly) n.648A>G c.*1393A>G (n.*1393A>G) c.*1367A>G (n.*1367A>G) c.325A>G n.512A>G c.3089A>G (p.Glu1030Gly) c.1976A>G (p.Glu659Gly) c.3071A>G (p.Glu1024Gly) c.2786A>G (p.Glu929Gly) c.1253A>G (p.Glu418Gly) n.2016A>G | |
17 | g.63496932A>T | CA400567552 | ACE | c.3638A>T (p.Glu1213Val) c.1916A>T (p.Glu639Val) c.1793A>T (p.Glu598Val) n.648A>T c.*1393A>T (n.*1393A>T) c.*1367A>T (n.*1367A>T) c.325A>T n.512A>T c.3089A>T (p.Glu1030Val) c.1976A>T (p.Glu659Val) c.3071A>T (p.Glu1024Val) c.2786A>T (p.Glu929Val) c.1253A>T (p.Glu418Val) n.2016A>T | |
17 | g.63496933G>A | CA8700575 | ACE | c.3639G>A (p.Glu1213=) c.1917G>A (p.Glu639=) c.1794G>A (p.Glu598=) n.649G>A c.*1394G>A (n.*1394G>A) c.*1368G>A (n.*1368G>A) c.326G>A n.513G>A c.3090G>A (p.Glu1030=) c.1977G>A (p.Glu659=) c.3072G>A (p.Glu1024=) c.2787G>A (p.Glu929=) c.1254G>A (p.Glu418=) n.2017G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63496933G>C | CA400567558 | ACE | c.3639G>C (p.Glu1213Asp) c.1917G>C (p.Glu639Asp) c.1794G>C (p.Glu598Asp) n.649G>C c.*1394G>C (n.*1394G>C) c.*1368G>C (n.*1368G>C) c.326G>C n.513G>C c.3090G>C (p.Glu1030Asp) c.1977G>C (p.Glu659Asp) c.3072G>C (p.Glu1024Asp) c.2787G>C (p.Glu929Asp) c.1254G>C (p.Glu418Asp) n.2017G>C | |
17 | g.63496933G= | CA2269949817 | ACE | c.3639G= (p.Glu1213=) c.1917G= (p.Glu639=) c.1794G= (p.Glu598=) n.649G= c.*1394G= (n.*1394G=) c.*1368G= (n.*1368G=) c.326G= n.513G= c.3090G= (p.Glu1030=) c.1977G= (p.Glu659=) c.3072G= (p.Glu1024=) c.2787G= (p.Glu929=) c.1254G= (p.Glu418=) n.2017G= | |
17 | g.63496933G>T | CA400567560 | ACE | c.3639G>T (p.Glu1213Asp) c.1917G>T (p.Glu639Asp) c.1794G>T (p.Glu598Asp) n.649G>T c.*1394G>T (n.*1394G>T) c.*1368G>T (n.*1368G>T) c.326G>T n.513G>T c.3090G>T (p.Glu1030Asp) c.1977G>T (p.Glu659Asp) c.3072G>T (p.Glu1024Asp) c.2787G>T (p.Glu929Asp) c.1254G>T (p.Glu418Asp) n.2017G>T | |
17 | g.63496934C>A | CA400567565 | ACE | c.3640C>A (p.Leu1214Met) c.1918C>A (p.Leu640Met) c.1795C>A (p.Leu599Met) n.650C>A c.*1395C>A (n.*1395C>A) c.*1369C>A (n.*1369C>A) c.327C>A n.514C>A c.3091C>A (p.Leu1031Met) c.1978C>A (p.Leu660Met) c.3073C>A (p.Leu1025Met) c.2788C>A (p.Leu930Met) c.1255C>A (p.Leu419Met) n.2018C>A | |
17 | g.63496934C>G | CA400567566 | ACE | c.3640C>G (p.Leu1214Val) c.1918C>G (p.Leu640Val) c.1795C>G (p.Leu599Val) n.650C>G c.*1395C>G (n.*1395C>G) c.*1369C>G (n.*1369C>G) c.327C>G n.514C>G c.3091C>G (p.Leu1031Val) c.1978C>G (p.Leu660Val) c.3073C>G (p.Leu1025Val) c.2788C>G (p.Leu930Val) c.1255C>G (p.Leu419Val) n.2018C>G | |
17 | g.63496934C>T | CA501342440 | ACE | c.3640C>T (p.Leu1214=) c.1918C>T (p.Leu640=) c.1795C>T (p.Leu599=) n.650C>T c.*1395C>T (n.*1395C>T) c.*1369C>T (n.*1369C>T) c.327C>T n.514C>T c.3091C>T (p.Leu1031=) c.1978C>T (p.Leu660=) c.3073C>T (p.Leu1025=) c.2788C>T (p.Leu930=) c.1255C>T (p.Leu419=) n.2018C>T | |
17 | g.63496935T>A | CA400567577 | ACE | c.3641T>A (p.Leu1214Gln) c.1919T>A (p.Leu640Gln) c.1796T>A (p.Leu599Gln) n.651T>A c.*1396T>A (n.*1396T>A) c.*1370T>A (n.*1370T>A) c.328T>A n.515T>A c.3092T>A (p.Leu1031Gln) c.1979T>A (p.Leu660Gln) c.3074T>A (p.Leu1025Gln) c.2789T>A (p.Leu930Gln) c.1256T>A (p.Leu419Gln) n.2019T>A | |
17 | g.63496935T>C | CA400567574 | ACE | c.3641T>C (p.Leu1214Pro) c.1919T>C (p.Leu640Pro) c.1796T>C (p.Leu599Pro) n.651T>C c.*1396T>C (n.*1396T>C) c.*1370T>C (n.*1370T>C) c.328T>C n.515T>C c.3092T>C (p.Leu1031Pro) c.1979T>C (p.Leu660Pro) c.3074T>C (p.Leu1025Pro) c.2789T>C (p.Leu930Pro) c.1256T>C (p.Leu419Pro) n.2019T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496935T>G | CA400567570 | ACE | c.3641T>G (p.Leu1214Arg) c.1919T>G (p.Leu640Arg) c.1796T>G (p.Leu599Arg) n.651T>G c.*1396T>G (n.*1396T>G) c.*1370T>G (n.*1370T>G) c.328T>G n.515T>G c.3092T>G (p.Leu1031Arg) c.1979T>G (p.Leu660Arg) c.3074T>G (p.Leu1025Arg) c.2789T>G (p.Leu930Arg) c.1256T>G (p.Leu419Arg) n.2019T>G | |
17 | g.63496935T= | CA2269949818 | ACE | c.3641T= (p.Leu1214=) c.1919T= (p.Leu640=) c.1796T= (p.Leu599=) n.651T= c.*1396T= (n.*1396T=) c.*1370T= (n.*1370T=) c.328T= n.515T= c.3092T= (p.Leu1031=) c.1979T= (p.Leu660=) c.3074T= (p.Leu1025=) c.2789T= (p.Leu930=) c.1256T= (p.Leu419=) n.2019T= | |
17 | g.63496936G>A | CA292890152 | ACE | c.3642G>A (p.Leu1214=) c.1920G>A (p.Leu640=) c.1797G>A (p.Leu599=) n.652G>A c.*1397G>A (n.*1397G>A) c.*1371G>A (n.*1371G>A) c.329G>A n.516G>A c.3093G>A (p.Leu1031=) c.1980G>A (p.Leu660=) c.3075G>A (p.Leu1025=) c.2790G>A (p.Leu930=) c.1257G>A (p.Leu419=) n.2020G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63496936G>C | CA501342444 | ACE | c.3642G>C (p.Leu1214=) c.1920G>C (p.Leu640=) c.1797G>C (p.Leu599=) n.652G>C c.*1397G>C (n.*1397G>C) c.*1371G>C (n.*1371G>C) c.329G>C n.516G>C c.3093G>C (p.Leu1031=) c.1980G>C (p.Leu660=) c.3075G>C (p.Leu1025=) c.2790G>C (p.Leu930=) c.1257G>C (p.Leu419=) n.2020G>C | |
17 | g.63496936G= | CA2269949819 | ACE | c.3642G= (p.Leu1214=) c.1920G= (p.Leu640=) c.1797G= (p.Leu599=) n.652G= c.*1397G= (n.*1397G=) c.*1371G= (n.*1371G=) c.329G= n.516G= c.3093G= (p.Leu1031=) c.1980G= (p.Leu660=) c.3075G= (p.Leu1025=) c.2790G= (p.Leu930=) c.1257G= (p.Leu419=) n.2020G= | |
17 | g.63496936G>T | CA292890155 | ACE | c.3642G>T (p.Leu1214=) c.1920G>T (p.Leu640=) c.1797G>T (p.Leu599=) n.652G>T c.*1397G>T (n.*1397G>T) c.*1371G>T (n.*1371G>T) c.329G>T n.516G>T c.3093G>T (p.Leu1031=) c.1980G>T (p.Leu660=) c.3075G>T (p.Leu1025=) c.2790G>T (p.Leu930=) c.1257G>T (p.Leu419=) n.2020G>T | dbSNP gnomAD v4 |
17 | g.63496937C>A | CA400567580 | ACE | c.3643C>A (p.His1215Asn) c.1921C>A (p.His641Asn) c.1798C>A (p.His600Asn) n.653C>A c.*1398C>A (n.*1398C>A) c.*1372C>A (n.*1372C>A) c.330C>A n.517C>A c.3094C>A (p.His1032Asn) c.1981C>A (p.His661Asn) c.3076C>A (p.His1026Asn) c.2791C>A (p.His931Asn) c.1258C>A (p.His420Asn) n.2021C>A | |
17 | g.63496937C>G | CA400567583 | ACE | c.3643C>G (p.His1215Asp) c.1921C>G (p.His641Asp) c.1798C>G (p.His600Asp) n.653C>G c.*1398C>G (n.*1398C>G) c.*1372C>G (n.*1372C>G) c.330C>G n.517C>G c.3094C>G (p.His1032Asp) c.1981C>G (p.His661Asp) c.3076C>G (p.His1026Asp) c.2791C>G (p.His931Asp) c.1258C>G (p.His420Asp) n.2021C>G | |
17 | g.63496937C>T | CA400567586 | ACE | c.3643C>T (p.His1215Tyr) c.1921C>T (p.His641Tyr) c.1798C>T (p.His600Tyr) n.653C>T c.*1398C>T (n.*1398C>T) c.*1372C>T (n.*1372C>T) c.330C>T n.517C>T c.3094C>T (p.His1032Tyr) c.1981C>T (p.His661Tyr) c.3076C>T (p.His1026Tyr) c.2791C>T (p.His931Tyr) c.1258C>T (p.His420Tyr) n.2021C>T | |
17 | g.63496938A= | CA2269949820 | ACE | c.3644A= (p.His1215=) c.1922A= (p.His641=) c.1799A= (p.His600=) n.654A= c.*1399A= (n.*1399A=) c.*1373A= (n.*1373A=) c.331A= n.518A= c.3095A= (p.His1032=) c.1982A= (p.His661=) c.3077A= (p.His1026=) c.2792A= (p.His931=) c.1259A= (p.His420=) n.2022A= | |
17 | g.63496938A>C | CA400567591 | ACE | c.3644A>C (p.His1215Pro) c.1922A>C (p.His641Pro) c.1799A>C (p.His600Pro) n.654A>C c.*1399A>C (n.*1399A>C) c.*1373A>C (n.*1373A>C) c.331A>C n.518A>C c.3095A>C (p.His1032Pro) c.1982A>C (p.His661Pro) c.3077A>C (p.His1026Pro) c.2792A>C (p.His931Pro) c.1259A>C (p.His420Pro) n.2022A>C | |
17 | g.63496938A>G | CA292890157 | ACE | c.3644A>G (p.His1215Arg) c.1922A>G (p.His641Arg) c.1799A>G (p.His600Arg) n.654A>G c.*1399A>G (n.*1399A>G) c.*1373A>G (n.*1373A>G) c.331A>G n.518A>G c.3095A>G (p.His1032Arg) c.1982A>G (p.His661Arg) c.3077A>G (p.His1026Arg) c.2792A>G (p.His931Arg) c.1259A>G (p.His420Arg) n.2022A>G | dbSNP gnomAD v4 |
17 | g.63496938A>T | CA400567596 | ACE | c.3644A>T (p.His1215Leu) c.1922A>T (p.His641Leu) c.1799A>T (p.His600Leu) n.654A>T c.*1399A>T (n.*1399A>T) c.*1373A>T (n.*1373A>T) c.331A>T n.518A>T c.3095A>T (p.His1032Leu) c.1982A>T (p.His661Leu) c.3077A>T (p.His1026Leu) c.2792A>T (p.His931Leu) c.1259A>T (p.His420Leu) n.2022A>T | |
17 | g.63496939T>A | CA400567598 | ACE | c.3645T>A (p.His1215Gln) c.1923T>A (p.His641Gln) c.1800T>A (p.His600Gln) n.655T>A c.*1400T>A (n.*1400T>A) c.*1374T>A (n.*1374T>A) c.332T>A n.519T>A c.3096T>A (p.His1032Gln) c.1983T>A (p.His661Gln) c.3078T>A (p.His1026Gln) c.2793T>A (p.His931Gln) c.1260T>A (p.His420Gln) n.2023T>A | |
17 | g.63496939T>C | CA8700576 | ACE | c.3645T>C (p.His1215=) c.1923T>C (p.His641=) c.1800T>C (p.His600=) n.655T>C c.*1400T>C (n.*1400T>C) c.*1374T>C (n.*1374T>C) c.332T>C n.519T>C c.3096T>C (p.His1032=) c.1983T>C (p.His661=) c.3078T>C (p.His1026=) c.2793T>C (p.His931=) c.1260T>C (p.His420=) n.2023T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496939T>G | CA400567601 | ACE | c.3645T>G (p.His1215Gln) c.1923T>G (p.His641Gln) c.1800T>G (p.His600Gln) n.655T>G c.*1400T>G (n.*1400T>G) c.*1374T>G (n.*1374T>G) c.332T>G n.519T>G c.3096T>G (p.His1032Gln) c.1983T>G (p.His661Gln) c.3078T>G (p.His1026Gln) c.2793T>G (p.His931Gln) c.1260T>G (p.His420Gln) n.2023T>G | dbSNP |
17 | g.63496939T= | CA2269949821 | ACE | c.3645T= (p.His1215=) c.1923T= (p.His641=) c.1800T= (p.His600=) n.655T= c.*1400T= (n.*1400T=) c.*1374T= (n.*1374T=) c.332T= n.519T= c.3096T= (p.His1032=) c.1983T= (p.His661=) c.3078T= (p.His1026=) c.2793T= (p.His931=) c.1260T= (p.His420=) n.2023T= | |
17 | g.63496940G>A | CA400567604 | ACE | c.3646G>A (p.Gly1216Arg) c.1924G>A (p.Gly642Arg) c.1801G>A (p.Gly601Arg) n.656G>A c.*1401G>A (n.*1401G>A) c.*1375G>A (n.*1375G>A) c.333G>A n.520G>A c.3097G>A (p.Gly1033Arg) c.1984G>A (p.Gly662Arg) c.3079G>A (p.Gly1027Arg) c.2794G>A (p.Gly932Arg) c.1261G>A (p.Gly421Arg) n.2024G>A | dbSNP gnomAD v4 |
17 | g.63496940G>C | CA400567606 | ACE | c.3646G>C (p.Gly1216Arg) c.1924G>C (p.Gly642Arg) c.1801G>C (p.Gly601Arg) n.656G>C c.*1401G>C (n.*1401G>C) c.*1375G>C (n.*1375G>C) c.333G>C n.520G>C c.3097G>C (p.Gly1033Arg) c.1984G>C (p.Gly662Arg) c.3079G>C (p.Gly1027Arg) c.2794G>C (p.Gly932Arg) c.1261G>C (p.Gly421Arg) n.2024G>C | |
17 | g.63496940G= | CA2269949822 | ACE | c.3646G= (p.Gly1216=) c.1924G= (p.Gly642=) c.1801G= (p.Gly601=) n.656G= c.*1401G= (n.*1401G=) c.*1375G= (n.*1375G=) c.333G= n.520G= c.3097G= (p.Gly1033=) c.1984G= (p.Gly662=) c.3079G= (p.Gly1027=) c.2794G= (p.Gly932=) c.1261G= (p.Gly421=) n.2024G= | |
17 | g.63496940G>T | CA400567608 | ACE | c.3646G>T (p.Gly1216Trp) c.1924G>T (p.Gly642Trp) c.1801G>T (p.Gly601Trp) n.656G>T c.*1401G>T (n.*1401G>T) c.*1375G>T (n.*1375G>T) c.333G>T n.520G>T c.3097G>T (p.Gly1033Trp) c.1984G>T (p.Gly662Trp) c.3079G>T (p.Gly1027Trp) c.2794G>T (p.Gly932Trp) c.1261G>T (p.Gly421Trp) n.2024G>T | |
17 | g.63496941G>A | CA400567619 | ACE | c.3647G>A (p.Gly1216Glu) c.1925G>A (p.Gly642Glu) c.1802G>A (p.Gly601Glu) n.657G>A c.*1402G>A (n.*1402G>A) c.*1376G>A (n.*1376G>A) c.334G>A n.521G>A c.3098G>A (p.Gly1033Glu) c.1985G>A (p.Gly662Glu) c.3080G>A (p.Gly1027Glu) c.2795G>A (p.Gly932Glu) c.1262G>A (p.Gly421Glu) n.2025G>A | gnomAD v4 |
17 | g.63496941G>C | CA400567611 | ACE | c.3647G>C (p.Gly1216Ala) c.1925G>C (p.Gly642Ala) c.1802G>C (p.Gly601Ala) n.657G>C c.*1402G>C (n.*1402G>C) c.*1376G>C (n.*1376G>C) c.334G>C n.521G>C c.3098G>C (p.Gly1033Ala) c.1985G>C (p.Gly662Ala) c.3080G>C (p.Gly1027Ala) c.2795G>C (p.Gly932Ala) c.1262G>C (p.Gly421Ala) n.2025G>C | |
17 | g.63496941G>T | CA400567615 | ACE | c.3647G>T (p.Gly1216Val) c.1925G>T (p.Gly642Val) c.1802G>T (p.Gly601Val) n.657G>T c.*1402G>T (n.*1402G>T) c.*1376G>T (n.*1376G>T) c.334G>T n.521G>T c.3098G>T (p.Gly1033Val) c.1985G>T (p.Gly662Val) c.3080G>T (p.Gly1027Val) c.2795G>T (p.Gly932Val) c.1262G>T (p.Gly421Val) n.2025G>T | |
17 | g.63496942G>A | CA501342446 | ACE | c.3648G>A (p.Gly1216=) c.1926G>A (p.Gly642=) c.1803G>A (p.Gly601=) n.658G>A c.*1403G>A (n.*1403G>A) c.*1377G>A (n.*1377G>A) c.335G>A n.522G>A c.3099G>A (p.Gly1033=) c.1986G>A (p.Gly662=) c.3081G>A (p.Gly1027=) c.2796G>A (p.Gly932=) c.1263G>A (p.Gly421=) n.2026G>A | gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.63496942G>C | CA501342447 | ACE | c.3648G>C (p.Gly1216=) c.1926G>C (p.Gly642=) c.1803G>C (p.Gly601=) n.658G>C c.*1403G>C (n.*1403G>C) c.*1377G>C (n.*1377G>C) c.335G>C n.522G>C c.3099G>C (p.Gly1033=) c.1986G>C (p.Gly662=) c.3081G>C (p.Gly1027=) c.2796G>C (p.Gly932=) c.1263G>C (p.Gly421=) n.2026G>C | |
17 | g.63496942G>T | CA501342448 | ACE | c.3648G>T (p.Gly1216=) c.1926G>T (p.Gly642=) c.1803G>T (p.Gly601=) n.658G>T c.*1403G>T (n.*1403G>T) c.*1377G>T (n.*1377G>T) c.335G>T n.522G>T c.3099G>T (p.Gly1033=) c.1986G>T (p.Gly662=) c.3081G>T (p.Gly1027=) c.2796G>T (p.Gly932=) c.1263G>T (p.Gly421=) n.2026G>T | |
17 | g.63496943G>A | CA400567622 | ACE | c.3649G>A (p.Glu1217Lys) c.1927G>A (p.Glu643Lys) c.1804G>A (p.Glu602Lys) n.659G>A c.*1404G>A (n.*1404G>A) c.*1378G>A (n.*1378G>A) c.336G>A n.523G>A c.3100G>A (p.Glu1034Lys) c.1987G>A (p.Glu663Lys) c.3082G>A (p.Glu1028Lys) c.2797G>A (p.Glu933Lys) c.1264G>A (p.Glu422Lys) n.2027G>A | |
17 | g.63496943G>C | CA400567625 | ACE | c.3649G>C (p.Glu1217Gln) c.1927G>C (p.Glu643Gln) c.1804G>C (p.Glu602Gln) n.659G>C c.*1404G>C (n.*1404G>C) c.*1378G>C (n.*1378G>C) c.336G>C n.523G>C c.3100G>C (p.Glu1034Gln) c.1987G>C (p.Glu663Gln) c.3082G>C (p.Glu1028Gln) c.2797G>C (p.Glu933Gln) c.1264G>C (p.Glu422Gln) n.2027G>C | |
17 | g.63496943G= | CA2269949823 | ACE | c.3649G= (p.Glu1217=) c.1927G= (p.Glu643=) c.1804G= (p.Glu602=) n.659G= c.*1404G= (n.*1404G=) c.*1378G= (n.*1378G=) c.336G= n.523G= c.3100G= (p.Glu1034=) c.1987G= (p.Glu663=) c.3082G= (p.Glu1028=) c.2797G= (p.Glu933=) c.1264G= (p.Glu422=) n.2027G= | |
17 | g.63496943G>T | CA8700577 | ACE | c.3649G>T (p.Glu1217Ter) c.1927G>T (p.Glu643Ter) c.1804G>T (p.Glu602Ter) n.659G>T c.*1404G>T (n.*1404G>T) c.*1378G>T (n.*1378G>T) c.336G>T n.523G>T c.3100G>T (p.Glu1034Ter) c.1987G>T (p.Glu663Ter) c.3082G>T (p.Glu1028Ter) c.2797G>T (p.Glu933Ter) c.1264G>T (p.Glu422Ter) n.2027G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496944A>C | CA400567628 | ACE | c.3650A>C (p.Glu1217Ala) c.1928A>C (p.Glu643Ala) c.1805A>C (p.Glu602Ala) n.660A>C c.*1405A>C (n.*1405A>C) c.*1379A>C (n.*1379A>C) c.337A>C n.524A>C c.3101A>C (p.Glu1034Ala) c.1988A>C (p.Glu663Ala) c.3083A>C (p.Glu1028Ala) c.2798A>C (p.Glu933Ala) c.1265A>C (p.Glu422Ala) n.2028A>C | |
17 | g.63496944A>G | CA400567629 | ACE | c.3650A>G (p.Glu1217Gly) c.1928A>G (p.Glu643Gly) c.1805A>G (p.Glu602Gly) n.660A>G c.*1405A>G (n.*1405A>G) c.*1379A>G (n.*1379A>G) c.337A>G n.524A>G c.3101A>G (p.Glu1034Gly) c.1988A>G (p.Glu663Gly) c.3083A>G (p.Glu1028Gly) c.2798A>G (p.Glu933Gly) c.1265A>G (p.Glu422Gly) n.2028A>G | |
17 | g.63496944A>T | CA400567631 | ACE | c.3650A>T (p.Glu1217Val) c.1928A>T (p.Glu643Val) c.1805A>T (p.Glu602Val) n.660A>T c.*1405A>T (n.*1405A>T) c.*1379A>T (n.*1379A>T) c.337A>T n.524A>T c.3101A>T (p.Glu1034Val) c.1988A>T (p.Glu663Val) c.3083A>T (p.Glu1028Val) c.2798A>T (p.Glu933Val) c.1265A>T (p.Glu422Val) n.2028A>T | |
17 | g.63496945G>A | CA501342449 | ACE | c.3651G>A (p.Glu1217=) c.1929G>A (p.Glu643=) c.1806G>A (p.Glu602=) n.661G>A c.*1406G>A (n.*1406G>A) c.*1380G>A (n.*1380G>A) c.338G>A n.525G>A c.3102G>A (p.Glu1034=) c.1989G>A (p.Glu663=) c.3084G>A (p.Glu1028=) c.2799G>A (p.Glu933=) c.1266G>A (p.Glu422=) n.2029G>A | |
17 | g.63496945G>C | CA400567634 | ACE | c.3651G>C (p.Glu1217Asp) c.1929G>C (p.Glu643Asp) c.1806G>C (p.Glu602Asp) n.661G>C c.*1406G>C (n.*1406G>C) c.*1380G>C (n.*1380G>C) c.338G>C n.525G>C c.3102G>C (p.Glu1034Asp) c.1989G>C (p.Glu663Asp) c.3084G>C (p.Glu1028Asp) c.2799G>C (p.Glu933Asp) c.1266G>C (p.Glu422Asp) n.2029G>C | |
17 | g.63496945G= | CA2269949824 | ACE | c.3651G= (p.Glu1217=) c.1929G= (p.Glu643=) c.1806G= (p.Glu602=) n.661G= c.*1406G= (n.*1406G=) c.*1380G= (n.*1380G=) c.338G= n.525G= c.3102G= (p.Glu1034=) c.1989G= (p.Glu663=) c.3084G= (p.Glu1028=) c.2799G= (p.Glu933=) c.1266G= (p.Glu422=) n.2029G= | |
17 | g.63496945G>T | CA400567637 | ACE | c.3651G>T (p.Glu1217Asp) c.1929G>T (p.Glu643Asp) c.1806G>T (p.Glu602Asp) n.661G>T c.*1406G>T (n.*1406G>T) c.*1380G>T (n.*1380G>T) c.338G>T n.525G>T c.3102G>T (p.Glu1034Asp) c.1989G>T (p.Glu663Asp) c.3084G>T (p.Glu1028Asp) c.2799G>T (p.Glu933Asp) c.1266G>T (p.Glu422Asp) n.2029G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63496946A= | CA2269949825 | ACE | c.3652A= (p.Lys1218=) c.1930A= (p.Lys644=) c.1807A= (p.Lys603=) n.662A= c.*1407A= (n.*1407A=) c.*1381A= (n.*1381A=) c.339A= n.526A= c.3103A= (p.Lys1035=) c.1990A= (p.Lys664=) c.3085A= (p.Lys1029=) c.2800A= (p.Lys934=) c.1267A= (p.Lys423=) n.2030A= | |
17 | g.63496946A>C | CA400567639 | ACE | c.3652A>C (p.Lys1218Gln) c.1930A>C (p.Lys644Gln) c.1807A>C (p.Lys603Gln) n.662A>C c.*1407A>C (n.*1407A>C) c.*1381A>C (n.*1381A>C) c.339A>C n.526A>C c.3103A>C (p.Lys1035Gln) c.1990A>C (p.Lys664Gln) c.3085A>C (p.Lys1029Gln) c.2800A>C (p.Lys934Gln) c.1267A>C (p.Lys423Gln) n.2030A>C | dbSNP |
17 | g.63496946A>G | CA400567641 | ACE | c.3652A>G (p.Lys1218Glu) c.1930A>G (p.Lys644Glu) c.1807A>G (p.Lys603Glu) n.662A>G c.*1407A>G (n.*1407A>G) c.*1381A>G (n.*1381A>G) c.339A>G n.526A>G c.3103A>G (p.Lys1035Glu) c.1990A>G (p.Lys664Glu) c.3085A>G (p.Lys1029Glu) c.2800A>G (p.Lys934Glu) c.1267A>G (p.Lys423Glu) n.2030A>G | |
17 | g.63496946A>T | CA400567643 | ACE | c.3652A>T (p.Lys1218Ter) c.1930A>T (p.Lys644Ter) c.1807A>T (p.Lys603Ter) n.662A>T c.*1407A>T (n.*1407A>T) c.*1381A>T (n.*1381A>T) c.339A>T n.526A>T c.3103A>T (p.Lys1035Ter) c.1990A>T (p.Lys664Ter) c.3085A>T (p.Lys1029Ter) c.2800A>T (p.Lys934Ter) c.1267A>T (p.Lys423Ter) n.2030A>T | |
17 | g.63496947A= | CA2269949826 | ACE | c.3653A= (p.Lys1218=) c.1931A= (p.Lys644=) c.1808A= (p.Lys603=) n.663A= c.*1408A= (n.*1408A=) c.*1382A= (n.*1382A=) c.340A= n.527A= c.3104A= (p.Lys1035=) c.1991A= (p.Lys664=) c.3086A= (p.Lys1029=) c.2801A= (p.Lys934=) c.1268A= (p.Lys423=) n.2031A= | |
17 | g.63496947A>C | CA400567653 | ACE | c.3653A>C (p.Lys1218Thr) c.1931A>C (p.Lys644Thr) c.1808A>C (p.Lys603Thr) n.663A>C c.*1408A>C (n.*1408A>C) c.*1382A>C (n.*1382A>C) c.340A>C n.527A>C c.3104A>C (p.Lys1035Thr) c.1991A>C (p.Lys664Thr) c.3086A>C (p.Lys1029Thr) c.2801A>C (p.Lys934Thr) c.1268A>C (p.Lys423Thr) n.2031A>C | gnomAD v4 |
17 | g.63496947A>G | CA400567650 | ACE | c.3653A>G (p.Lys1218Arg) c.1931A>G (p.Lys644Arg) c.1808A>G (p.Lys603Arg) n.663A>G c.*1408A>G (n.*1408A>G) c.*1382A>G (n.*1382A>G) c.340A>G n.527A>G c.3104A>G (p.Lys1035Arg) c.1991A>G (p.Lys664Arg) c.3086A>G (p.Lys1029Arg) c.2801A>G (p.Lys934Arg) c.1268A>G (p.Lys423Arg) n.2031A>G | dbSNP |
17 | g.63496947A>T | CA400567646 | ACE | c.3653A>T (p.Lys1218Met) c.1931A>T (p.Lys644Met) c.1808A>T (p.Lys603Met) n.663A>T c.*1408A>T (n.*1408A>T) c.*1382A>T (n.*1382A>T) c.340A>T n.527A>T c.3104A>T (p.Lys1035Met) c.1991A>T (p.Lys664Met) c.3086A>T (p.Lys1029Met) c.2801A>T (p.Lys934Met) c.1268A>T (p.Lys423Met) n.2031A>T | |
17 | g.63496948G>A | CA501342450 | ACE | c.3654G>A (p.Lys1218=) c.1932G>A (p.Lys644=) c.1809G>A (p.Lys603=) n.664G>A c.*1409G>A (n.*1409G>A) c.*1383G>A (n.*1383G>A) c.341G>A n.528G>A c.3105G>A (p.Lys1035=) c.1992G>A (p.Lys664=) c.3087G>A (p.Lys1029=) c.2802G>A (p.Lys934=) c.1269G>A (p.Lys423=) n.2032G>A | gnomAD v4 |
17 | g.63496948G>C | CA400567655 | ACE | c.3654G>C (p.Lys1218Asn) c.1932G>C (p.Lys644Asn) c.1809G>C (p.Lys603Asn) n.664G>C c.*1409G>C (n.*1409G>C) c.*1383G>C (n.*1383G>C) c.341G>C n.528G>C c.3105G>C (p.Lys1035Asn) c.1992G>C (p.Lys664Asn) c.3087G>C (p.Lys1029Asn) c.2802G>C (p.Lys934Asn) c.1269G>C (p.Lys423Asn) n.2032G>C | |
17 | g.63496948G>T | CA400567658 | ACE | c.3654G>T (p.Lys1218Asn) c.1932G>T (p.Lys644Asn) c.1809G>T (p.Lys603Asn) n.664G>T c.*1409G>T (n.*1409G>T) c.*1383G>T (n.*1383G>T) c.341G>T n.528G>T c.3105G>T (p.Lys1035Asn) c.1992G>T (p.Lys664Asn) c.3087G>T (p.Lys1029Asn) c.2802G>T (p.Lys934Asn) c.1269G>T (p.Lys423Asn) n.2032G>T | |
17 | g.63496949C>A | CA400567660 | ACE | c.3655C>A (p.Leu1219Met) c.1933C>A (p.Leu645Met) c.1810C>A (p.Leu604Met) n.665C>A c.*1410C>A (n.*1410C>A) c.*1384C>A (n.*1384C>A) c.342C>A n.529C>A c.3106C>A (p.Leu1036Met) c.1993C>A (p.Leu665Met) c.3088C>A (p.Leu1030Met) c.2803C>A (p.Leu935Met) c.1270C>A (p.Leu424Met) n.2033C>A | |
17 | g.63496949C>G | CA400567662 | ACE | c.3655C>G (p.Leu1219Val) c.1933C>G (p.Leu645Val) c.1810C>G (p.Leu604Val) n.665C>G c.*1410C>G (n.*1410C>G) c.*1384C>G (n.*1384C>G) c.342C>G n.529C>G c.3106C>G (p.Leu1036Val) c.1993C>G (p.Leu665Val) c.3088C>G (p.Leu1030Val) c.2803C>G (p.Leu935Val) c.1270C>G (p.Leu424Val) n.2033C>G | |
17 | g.63496949C>T | CA501342451 | ACE | c.3655C>T (p.Leu1219=) c.1933C>T (p.Leu645=) c.1810C>T (p.Leu604=) n.665C>T c.*1410C>T (n.*1410C>T) c.*1384C>T (n.*1384C>T) c.342C>T n.529C>T c.3106C>T (p.Leu1036=) c.1993C>T (p.Leu665=) c.3088C>T (p.Leu1030=) c.2803C>T (p.Leu935=) c.1270C>T (p.Leu424=) n.2033C>T | |
17 | g.63496950T>A | CA400567667 | ACE | c.3656T>A (p.Leu1219Gln) c.1934T>A (p.Leu645Gln) c.1811T>A (p.Leu604Gln) n.666T>A c.*1411T>A (n.*1411T>A) c.*1385T>A (n.*1385T>A) c.343T>A n.530T>A c.3107T>A (p.Leu1036Gln) c.1994T>A (p.Leu665Gln) c.3089T>A (p.Leu1030Gln) c.2804T>A (p.Leu935Gln) c.1271T>A (p.Leu424Gln) n.2034T>A | |
17 | g.63496950T>C | CA8700578 | ACE | c.3656T>C (p.Leu1219Pro) c.1934T>C (p.Leu645Pro) c.1811T>C (p.Leu604Pro) n.666T>C c.*1411T>C (n.*1411T>C) c.*1385T>C (n.*1385T>C) c.343T>C n.530T>C c.3107T>C (p.Leu1036Pro) c.1994T>C (p.Leu665Pro) c.3089T>C (p.Leu1030Pro) c.2804T>C (p.Leu935Pro) c.1271T>C (p.Leu424Pro) n.2034T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496950T>G | CA400567673 | ACE | c.3656T>G (p.Leu1219Arg) c.1934T>G (p.Leu645Arg) c.1811T>G (p.Leu604Arg) n.666T>G c.*1411T>G (n.*1411T>G) c.*1385T>G (n.*1385T>G) c.343T>G n.530T>G c.3107T>G (p.Leu1036Arg) c.1994T>G (p.Leu665Arg) c.3089T>G (p.Leu1030Arg) c.2804T>G (p.Leu935Arg) c.1271T>G (p.Leu424Arg) n.2034T>G | |
17 | g.63496950T= | CA2269949827 | ACE | c.3656T= (p.Leu1219=) c.1934T= (p.Leu645=) c.1811T= (p.Leu604=) n.666T= c.*1411T= (n.*1411T=) c.*1385T= (n.*1385T=) c.343T= n.530T= c.3107T= (p.Leu1036=) c.1994T= (p.Leu665=) c.3089T= (p.Leu1030=) c.2804T= (p.Leu935=) c.1271T= (p.Leu424=) n.2034T= | |
17 | g.63496951G>A | CA8700579 | ACE | c.3657G>A (p.Leu1219=) c.1935G>A (p.Leu645=) c.1812G>A (p.Leu604=) n.667G>A c.*1412G>A (n.*1412G>A) c.*1386G>A (n.*1386G>A) c.344G>A n.531G>A c.3108G>A (p.Leu1036=) c.1995G>A (p.Leu665=) c.3090G>A (p.Leu1030=) c.2805G>A (p.Leu935=) c.1272G>A (p.Leu424=) n.2035G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496951G>C | CA501342452 | ACE | c.3657G>C (p.Leu1219=) c.1935G>C (p.Leu645=) c.1812G>C (p.Leu604=) n.667G>C c.*1412G>C (n.*1412G>C) c.*1386G>C (n.*1386G>C) c.344G>C n.531G>C c.3108G>C (p.Leu1036=) c.1995G>C (p.Leu665=) c.3090G>C (p.Leu1030=) c.2805G>C (p.Leu935=) c.1272G>C (p.Leu424=) n.2035G>C | |
17 | g.63496951G= | CA2269949828 | ACE | c.3657G= (p.Leu1219=) c.1935G= (p.Leu645=) c.1812G= (p.Leu604=) n.667G= c.*1412G= (n.*1412G=) c.*1386G= (n.*1386G=) c.344G= n.531G= c.3108G= (p.Leu1036=) c.1995G= (p.Leu665=) c.3090G= (p.Leu1030=) c.2805G= (p.Leu935=) c.1272G= (p.Leu424=) n.2035G= | |
17 | g.63496951G>T | CA501342453 | ACE | c.3657G>T (p.Leu1219=) c.1935G>T (p.Leu645=) c.1812G>T (p.Leu604=) n.667G>T c.*1412G>T (n.*1412G>T) c.*1386G>T (n.*1386G>T) c.344G>T n.531G>T c.3108G>T (p.Leu1036=) c.1995G>T (p.Leu665=) c.3090G>T (p.Leu1030=) c.2805G>T (p.Leu935=) c.1272G>T (p.Leu424=) n.2035G>T | |
17 | g.63496952G>A | CA400567678 | ACE | c.3658G>A (p.Gly1220Ser) c.1936G>A (p.Gly646Ser) c.1813G>A (p.Gly605Ser) n.668G>A c.*1413G>A (n.*1413G>A) c.*1387G>A (n.*1387G>A) c.345G>A n.532G>A c.3109G>A (p.Gly1037Ser) c.1996G>A (p.Gly666Ser) c.3091G>A (p.Gly1031Ser) c.2806G>A (p.Gly936Ser) c.1273G>A (p.Gly425Ser) n.2036G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63496952G>C | CA400567681 | ACE | c.3658G>C (p.Gly1220Arg) c.1936G>C (p.Gly646Arg) c.1813G>C (p.Gly605Arg) n.668G>C c.*1413G>C (n.*1413G>C) c.*1387G>C (n.*1387G>C) c.345G>C n.532G>C c.3109G>C (p.Gly1037Arg) c.1996G>C (p.Gly666Arg) c.3091G>C (p.Gly1031Arg) c.2806G>C (p.Gly936Arg) c.1273G>C (p.Gly425Arg) n.2036G>C | |
17 | g.63496952G= | CA2269949829 | ACE | c.3658G= (p.Gly1220=) c.1936G= (p.Gly646=) c.1813G= (p.Gly605=) n.668G= c.*1413G= (n.*1413G=) c.*1387G= (n.*1387G=) c.345G= n.532G= c.3109G= (p.Gly1037=) c.1996G= (p.Gly666=) c.3091G= (p.Gly1031=) c.2806G= (p.Gly936=) c.1273G= (p.Gly425=) n.2036G= | |
17 | g.63496952G>T | CA400567684 | ACE | c.3658G>T (p.Gly1220Cys) c.1936G>T (p.Gly646Cys) c.1813G>T (p.Gly605Cys) n.668G>T c.*1413G>T (n.*1413G>T) c.*1387G>T (n.*1387G>T) c.345G>T n.532G>T c.3109G>T (p.Gly1037Cys) c.1996G>T (p.Gly666Cys) c.3091G>T (p.Gly1031Cys) c.2806G>T (p.Gly936Cys) c.1273G>T (p.Gly425Cys) n.2036G>T | |
17 | g.63496953G>A | CA400567688 | ACE | c.3659G>A (p.Gly1220Asp) c.1937G>A (p.Gly646Asp) c.1814G>A (p.Gly605Asp) n.669G>A c.*1414G>A (n.*1414G>A) c.*1388G>A (n.*1388G>A) c.346G>A n.533G>A c.3110G>A (p.Gly1037Asp) c.1997G>A (p.Gly666Asp) c.3092G>A (p.Gly1031Asp) c.2807G>A (p.Gly936Asp) c.1274G>A (p.Gly425Asp) n.2037G>A | |
17 | g.63496953G>C | CA400567691 | ACE | c.3659G>C (p.Gly1220Ala) c.1937G>C (p.Gly646Ala) c.1814G>C (p.Gly605Ala) n.669G>C c.*1414G>C (n.*1414G>C) c.*1388G>C (n.*1388G>C) c.346G>C n.533G>C c.3110G>C (p.Gly1037Ala) c.1997G>C (p.Gly666Ala) c.3092G>C (p.Gly1031Ala) c.2807G>C (p.Gly936Ala) c.1274G>C (p.Gly425Ala) n.2037G>C | |
17 | g.63496953G>T | CA400567694 | ACE | c.3659G>T (p.Gly1220Val) c.1937G>T (p.Gly646Val) c.1814G>T (p.Gly605Val) n.669G>T c.*1414G>T (n.*1414G>T) c.*1388G>T (n.*1388G>T) c.346G>T n.533G>T c.3110G>T (p.Gly1037Val) c.1997G>T (p.Gly666Val) c.3092G>T (p.Gly1031Val) c.2807G>T (p.Gly936Val) c.1274G>T (p.Gly425Val) n.2037G>T | |
17 | g.63496954C>A | CA501342454 | ACE | c.3660C>A (p.Gly1220=) c.1938C>A (p.Gly646=) c.1815C>A (p.Gly605=) n.670C>A c.*1415C>A (n.*1415C>A) c.*1389C>A (n.*1389C>A) c.347C>A n.534C>A c.3111C>A (p.Gly1037=) c.1998C>A (p.Gly666=) c.3093C>A (p.Gly1031=) c.2808C>A (p.Gly936=) c.1275C>A (p.Gly425=) n.2038C>A | |
17 | g.63496954C= | CA2269949830 | ACE | c.3660C= (p.Gly1220=) c.1938C= (p.Gly646=) c.1815C= (p.Gly605=) n.670C= c.*1415C= (n.*1415C=) c.*1389C= (n.*1389C=) c.347C= n.534C= c.3111C= (p.Gly1037=) c.1998C= (p.Gly666=) c.3093C= (p.Gly1031=) c.2808C= (p.Gly936=) c.1275C= (p.Gly425=) n.2038C= | |
17 | g.63496954C>G | CA501342456 | ACE | c.3660C>G (p.Gly1220=) c.1938C>G (p.Gly646=) c.1815C>G (p.Gly605=) n.670C>G c.*1415C>G (n.*1415C>G) c.*1389C>G (n.*1389C>G) c.347C>G n.534C>G c.3111C>G (p.Gly1037=) c.1998C>G (p.Gly666=) c.3093C>G (p.Gly1031=) c.2808C>G (p.Gly936=) c.1275C>G (p.Gly425=) n.2038C>G | |
17 | g.63496954C>T | CA501342455 | ACE | c.3660C>T (p.Gly1220=) c.1938C>T (p.Gly646=) c.1815C>T (p.Gly605=) n.670C>T c.*1415C>T (n.*1415C>T) c.*1389C>T (n.*1389C>T) c.347C>T n.534C>T c.3111C>T (p.Gly1037=) c.1998C>T (p.Gly666=) c.3093C>T (p.Gly1031=) c.2808C>T (p.Gly936=) c.1275C>T (p.Gly425=) n.2038C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63496955T>A | CA400567707 | ACE | c.3661T>A (p.Trp1221Arg) c.1939T>A (p.Trp647Arg) c.1816T>A (p.Trp606Arg) n.671T>A c.*1416T>A (n.*1416T>A) c.*1390T>A (n.*1390T>A) c.348T>A n.535T>A c.3112T>A (p.Trp1038Arg) c.1999T>A (p.Trp667Arg) c.3094T>A (p.Trp1032Arg) c.2809T>A (p.Trp937Arg) c.1276T>A (p.Trp426Arg) n.2039T>A | |
17 | g.63496955T>C | CA400567698 | ACE | c.3661T>C (p.Trp1221Arg) c.1939T>C (p.Trp647Arg) c.1816T>C (p.Trp606Arg) n.671T>C c.*1416T>C (n.*1416T>C) c.*1390T>C (n.*1390T>C) c.348T>C n.535T>C c.3112T>C (p.Trp1038Arg) c.1999T>C (p.Trp667Arg) c.3094T>C (p.Trp1032Arg) c.2809T>C (p.Trp937Arg) c.1276T>C (p.Trp426Arg) n.2039T>C | |
17 | g.63496955T>G | CA400567703 | ACE | c.3661T>G (p.Trp1221Gly) c.1939T>G (p.Trp647Gly) c.1816T>G (p.Trp606Gly) n.671T>G c.*1416T>G (n.*1416T>G) c.*1390T>G (n.*1390T>G) c.348T>G n.535T>G c.3112T>G (p.Trp1038Gly) c.1999T>G (p.Trp667Gly) c.3094T>G (p.Trp1032Gly) c.2809T>G (p.Trp937Gly) c.1276T>G (p.Trp426Gly) n.2039T>G | |
17 | g.63496956G>A | CA400567710 | ACE | c.3662G>A (p.Trp1221Ter) c.1940G>A (p.Trp647Ter) c.1817G>A (p.Trp606Ter) n.672G>A c.*1417G>A (n.*1417G>A) c.*1391G>A (n.*1391G>A) c.349G>A n.536G>A c.3113G>A (p.Trp1038Ter) c.2000G>A (p.Trp667Ter) c.3095G>A (p.Trp1032Ter) c.2810G>A (p.Trp937Ter) c.1277G>A (p.Trp426Ter) n.2040G>A | |
17 | g.63496956G>C | CA400567712 | ACE | c.3662G>C (p.Trp1221Ser) c.1940G>C (p.Trp647Ser) c.1817G>C (p.Trp606Ser) n.672G>C c.*1417G>C (n.*1417G>C) c.*1391G>C (n.*1391G>C) c.349G>C n.536G>C c.3113G>C (p.Trp1038Ser) c.2000G>C (p.Trp667Ser) c.3095G>C (p.Trp1032Ser) c.2810G>C (p.Trp937Ser) c.1277G>C (p.Trp426Ser) n.2040G>C | |
17 | g.63496956G>T | CA400567714 | ACE | c.3662G>T (p.Trp1221Leu) c.1940G>T (p.Trp647Leu) c.1817G>T (p.Trp606Leu) n.672G>T c.*1417G>T (n.*1417G>T) c.*1391G>T (n.*1391G>T) c.349G>T n.536G>T c.3113G>T (p.Trp1038Leu) c.2000G>T (p.Trp667Leu) c.3095G>T (p.Trp1032Leu) c.2810G>T (p.Trp937Leu) c.1277G>T (p.Trp426Leu) n.2040G>T | |
17 | g.63496957G>A | CA400567719 | ACE | c.3663G>A (p.Trp1221Ter) c.1941G>A (p.Trp647Ter) c.1818G>A (p.Trp606Ter) n.673G>A c.*1418G>A (n.*1418G>A) c.*1392G>A (n.*1392G>A) c.350G>A n.537G>A c.3114G>A (p.Trp1038Ter) c.2001G>A (p.Trp667Ter) c.3096G>A (p.Trp1032Ter) c.2811G>A (p.Trp937Ter) c.1278G>A (p.Trp426Ter) n.2041G>A | gnomAD v4 |
17 | g.63496957G>C | CA400567722 | ACE | c.3663G>C (p.Trp1221Cys) c.1941G>C (p.Trp647Cys) c.1818G>C (p.Trp606Cys) n.673G>C c.*1418G>C (n.*1418G>C) c.*1392G>C (n.*1392G>C) c.350G>C n.537G>C c.3114G>C (p.Trp1038Cys) c.2001G>C (p.Trp667Cys) c.3096G>C (p.Trp1032Cys) c.2811G>C (p.Trp937Cys) c.1278G>C (p.Trp426Cys) n.2041G>C | |
17 | g.63496957G= | CA2269949831 | ACE | c.3663G= (p.Trp1221=) c.1941G= (p.Trp647=) c.1818G= (p.Trp606=) n.673G= c.*1418G= (n.*1418G=) c.*1392G= (n.*1392G=) c.350G= n.537G= c.3114G= (p.Trp1038=) c.2001G= (p.Trp667=) c.3096G= (p.Trp1032=) c.2811G= (p.Trp937=) c.1278G= (p.Trp426=) n.2041G= | |
17 | g.63496957G>T | CA400567723 | ACE | c.3663G>T (p.Trp1221Cys) c.1941G>T (p.Trp647Cys) c.1818G>T (p.Trp606Cys) n.673G>T c.*1418G>T (n.*1418G>T) c.*1392G>T (n.*1392G>T) c.350G>T n.537G>T c.3114G>T (p.Trp1038Cys) c.2001G>T (p.Trp667Cys) c.3096G>T (p.Trp1032Cys) c.2811G>T (p.Trp937Cys) c.1278G>T (p.Trp426Cys) n.2041G>T | dbSNP |
17 | g.63496958C>A | CA400567724 | ACE | c.3664C>A (p.Pro1222Thr) c.1942C>A (p.Pro648Thr) c.1819C>A (p.Pro607Thr) n.674C>A c.*1419C>A (n.*1419C>A) c.*1393C>A (n.*1393C>A) c.351C>A n.538C>A c.3115C>A (p.Pro1039Thr) c.2002C>A (p.Pro668Thr) c.3097C>A (p.Pro1033Thr) c.2812C>A (p.Pro938Thr) c.1279C>A (p.Pro427Thr) n.2042C>A | |
17 | g.63496958C= | CA2269949832 | ACE | c.3664C= (p.Pro1222=) c.1942C= (p.Pro648=) c.1819C= (p.Pro607=) n.674C= c.*1419C= (n.*1419C=) c.*1393C= (n.*1393C=) c.351C= n.538C= c.3115C= (p.Pro1039=) c.2002C= (p.Pro668=) c.3097C= (p.Pro1033=) c.2812C= (p.Pro938=) c.1279C= (p.Pro427=) n.2042C= | |
17 | g.63496958C>G | CA400567725 | ACE | c.3664C>G (p.Pro1222Ala) c.1942C>G (p.Pro648Ala) c.1819C>G (p.Pro607Ala) n.674C>G c.*1419C>G (n.*1419C>G) c.*1393C>G (n.*1393C>G) c.351C>G n.538C>G c.3115C>G (p.Pro1039Ala) c.2002C>G (p.Pro668Ala) c.3097C>G (p.Pro1033Ala) c.2812C>G (p.Pro938Ala) c.1279C>G (p.Pro427Ala) n.2042C>G | |
17 | g.63496958C>T | CA8700580 | ACE | c.3664C>T (p.Pro1222Ser) c.1942C>T (p.Pro648Ser) c.1819C>T (p.Pro607Ser) n.674C>T c.*1419C>T (n.*1419C>T) c.*1393C>T (n.*1393C>T) c.351C>T n.538C>T c.3115C>T (p.Pro1039Ser) c.2002C>T (p.Pro668Ser) c.3097C>T (p.Pro1033Ser) c.2812C>T (p.Pro938Ser) c.1279C>T (p.Pro427Ser) n.2042C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63496959C>A | CA400567729 | ACE | c.3665C>A (p.Pro1222Gln) c.1943C>A (p.Pro648Gln) c.1820C>A (p.Pro607Gln) n.675C>A c.*1420C>A (n.*1420C>A) c.*1394C>A (n.*1394C>A) c.352C>A n.539C>A c.3116C>A (p.Pro1039Gln) c.2003C>A (p.Pro668Gln) c.3098C>A (p.Pro1033Gln) c.2813C>A (p.Pro938Gln) c.1280C>A (p.Pro427Gln) n.2043C>A | |
17 | g.63496959C= | CA2269949833 | ACE | c.3665C= (p.Pro1222=) c.1943C= (p.Pro648=) c.1820C= (p.Pro607=) n.675C= c.*1420C= (n.*1420C=) c.*1394C= (n.*1394C=) c.352C= n.539C= c.3116C= (p.Pro1039=) c.2003C= (p.Pro668=) c.3098C= (p.Pro1033=) c.2813C= (p.Pro938=) c.1280C= (p.Pro427=) n.2043C= | |
17 | g.63496959C>G | CA400567731 | ACE | c.3665C>G (p.Pro1222Arg) c.1943C>G (p.Pro648Arg) c.1820C>G (p.Pro607Arg) n.675C>G c.*1420C>G (n.*1420C>G) c.*1394C>G (n.*1394C>G) c.352C>G n.539C>G c.3116C>G (p.Pro1039Arg) c.2003C>G (p.Pro668Arg) c.3098C>G (p.Pro1033Arg) c.2813C>G (p.Pro938Arg) c.1280C>G (p.Pro427Arg) n.2043C>G | |
17 | g.63496959C>T | CA8700581 | ACE | c.3665C>T (p.Pro1222Leu) c.1943C>T (p.Pro648Leu) c.1820C>T (p.Pro607Leu) n.675C>T c.*1420C>T (n.*1420C>T) c.*1394C>T (n.*1394C>T) c.352C>T n.539C>T c.3116C>T (p.Pro1039Leu) c.2003C>T (p.Pro668Leu) c.3098C>T (p.Pro1033Leu) c.2813C>T (p.Pro938Leu) c.1280C>T (p.Pro427Leu) n.2043C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496960G>A | CA8700583 | ACE | c.3666G>A (p.Pro1222=) c.1944G>A (p.Pro648=) c.1821G>A (p.Pro607=) n.676G>A c.*1421G>A (n.*1421G>A) c.*1395G>A (n.*1395G>A) c.353G>A n.540G>A c.3117G>A (p.Pro1039=) c.2004G>A (p.Pro668=) c.3099G>A (p.Pro1033=) c.2814G>A (p.Pro938=) c.1281G>A (p.Pro427=) n.2044G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.63496960G>C | CA501342457 | ACE | c.3666G>C (p.Pro1222=) c.1944G>C (p.Pro648=) c.1821G>C (p.Pro607=) n.676G>C c.*1421G>C (n.*1421G>C) c.*1395G>C (n.*1395G>C) c.353G>C n.540G>C c.3117G>C (p.Pro1039=) c.2004G>C (p.Pro668=) c.3099G>C (p.Pro1033=) c.2814G>C (p.Pro938=) c.1281G>C (p.Pro427=) n.2044G>C | |
17 | g.63496960G= | CA2269949834 | ACE | c.3666G= (p.Pro1222=) c.1944G= (p.Pro648=) c.1821G= (p.Pro607=) n.676G= c.*1421G= (n.*1421G=) c.*1395G= (n.*1395G=) c.353G= n.540G= c.3117G= (p.Pro1039=) c.2004G= (p.Pro668=) c.3099G= (p.Pro1033=) c.2814G= (p.Pro938=) c.1281G= (p.Pro427=) n.2044G= | |
17 | g.63496960G>T | CA8700582 | ACE | c.3666G>T (p.Pro1222=) c.1944G>T (p.Pro648=) c.1821G>T (p.Pro607=) n.676G>T c.*1421G>T (n.*1421G>T) c.*1395G>T (n.*1395G>T) c.353G>T n.540G>T c.3117G>T (p.Pro1039=) c.2004G>T (p.Pro668=) c.3099G>T (p.Pro1033=) c.2814G>T (p.Pro938=) c.1281G>T (p.Pro427=) n.2044G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496961C>A | CA400567741 | ACE | c.3667C>A (p.Gln1223Lys) c.1945C>A (p.Gln649Lys) c.1822C>A (p.Gln608Lys) n.677C>A c.*1422C>A (n.*1422C>A) c.*1396C>A (n.*1396C>A) c.354C>A n.541C>A c.3118C>A (p.Gln1040Lys) c.2005C>A (p.Gln669Lys) c.3100C>A (p.Gln1034Lys) c.2815C>A (p.Gln939Lys) c.1282C>A (p.Gln428Lys) n.2045C>A | gnomAD v4 |
17 | g.63496961C>G | CA400567744 | ACE | c.3667C>G (p.Gln1223Glu) c.1945C>G (p.Gln649Glu) c.1822C>G (p.Gln608Glu) n.677C>G c.*1422C>G (n.*1422C>G) c.*1396C>G (n.*1396C>G) c.354C>G n.541C>G c.3118C>G (p.Gln1040Glu) c.2005C>G (p.Gln669Glu) c.3100C>G (p.Gln1034Glu) c.2815C>G (p.Gln939Glu) c.1282C>G (p.Gln428Glu) n.2045C>G | |
17 | g.63496961C>T | CA400567747 | ACE | c.3667C>T (p.Gln1223Ter) c.1945C>T (p.Gln649Ter) c.1822C>T (p.Gln608Ter) n.677C>T c.*1422C>T (n.*1422C>T) c.*1396C>T (n.*1396C>T) c.354C>T n.541C>T c.3118C>T (p.Gln1040Ter) c.2005C>T (p.Gln669Ter) c.3100C>T (p.Gln1034Ter) c.2815C>T (p.Gln939Ter) c.1282C>T (p.Gln428Ter) n.2045C>T | gnomAD v4 |
17 | g.63496962A= | CA2269949835 | ACE | c.3668A= (p.Gln1223=) c.1946A= (p.Gln649=) c.1823A= (p.Gln608=) n.678A= c.*1423A= (n.*1423A=) c.*1397A= (n.*1397A=) c.355A= n.542A= c.3119A= (p.Gln1040=) c.2006A= (p.Gln669=) c.3101A= (p.Gln1034=) c.2816A= (p.Gln939=) c.1283A= (p.Gln428=) n.2046A= | |
17 | g.63496962A>C | CA400567750 | ACE | c.3668A>C (p.Gln1223Pro) c.1946A>C (p.Gln649Pro) c.1823A>C (p.Gln608Pro) n.678A>C c.*1423A>C (n.*1423A>C) c.*1397A>C (n.*1397A>C) c.355A>C n.542A>C c.3119A>C (p.Gln1040Pro) c.2006A>C (p.Gln669Pro) c.3101A>C (p.Gln1034Pro) c.2816A>C (p.Gln939Pro) c.1283A>C (p.Gln428Pro) n.2046A>C | |
17 | g.63496962A>G | CA400567753 | ACE | c.3668A>G (p.Gln1223Arg) c.1946A>G (p.Gln649Arg) c.1823A>G (p.Gln608Arg) n.678A>G c.*1423A>G (n.*1423A>G) c.*1397A>G (n.*1397A>G) c.355A>G n.542A>G c.3119A>G (p.Gln1040Arg) c.2006A>G (p.Gln669Arg) c.3101A>G (p.Gln1034Arg) c.2816A>G (p.Gln939Arg) c.1283A>G (p.Gln428Arg) n.2046A>G | |
17 | g.63496962A>T | CA400567755 | ACE | c.3668A>T (p.Gln1223Leu) c.1946A>T (p.Gln649Leu) c.1823A>T (p.Gln608Leu) n.678A>T c.*1423A>T (n.*1423A>T) c.*1397A>T (n.*1397A>T) c.355A>T n.542A>T c.3119A>T (p.Gln1040Leu) c.2006A>T (p.Gln669Leu) c.3101A>T (p.Gln1034Leu) c.2816A>T (p.Gln939Leu) c.1283A>T (p.Gln428Leu) n.2046A>T | dbSNP |
17 | g.63496963G>A | CA292890169 | ACE | c.3669G>A (p.Gln1223=) c.1947G>A (p.Gln649=) c.1824G>A (p.Gln608=) n.679G>A c.*1424G>A (n.*1424G>A) c.*1398G>A (n.*1398G>A) c.356G>A n.543G>A c.3120G>A (p.Gln1040=) c.2007G>A (p.Gln669=) c.3102G>A (p.Gln1034=) c.2817G>A (p.Gln939=) c.1284G>A (p.Gln428=) n.2047G>A | dbSNP gnomAD v4 |
17 | g.63496963G>C | CA400567759 | ACE | c.3669G>C (p.Gln1223His) c.1947G>C (p.Gln649His) c.1824G>C (p.Gln608His) n.679G>C c.*1424G>C (n.*1424G>C) c.*1398G>C (n.*1398G>C) c.356G>C n.543G>C c.3120G>C (p.Gln1040His) c.2007G>C (p.Gln669His) c.3102G>C (p.Gln1034His) c.2817G>C (p.Gln939His) c.1284G>C (p.Gln428His) n.2047G>C | |
17 | g.63496963G= | CA2269949836 | ACE | c.3669G= (p.Gln1223=) c.1947G= (p.Gln649=) c.1824G= (p.Gln608=) n.679G= c.*1424G= (n.*1424G=) c.*1398G= (n.*1398G=) c.356G= n.543G= c.3120G= (p.Gln1040=) c.2007G= (p.Gln669=) c.3102G= (p.Gln1034=) c.2817G= (p.Gln939=) c.1284G= (p.Gln428=) n.2047G= | |
17 | g.63496963G>T | CA400567762 | ACE | c.3669G>T (p.Gln1223His) c.1947G>T (p.Gln649His) c.1824G>T (p.Gln608His) n.679G>T c.*1424G>T (n.*1424G>T) c.*1398G>T (n.*1398G>T) c.356G>T n.543G>T c.3120G>T (p.Gln1040His) c.2007G>T (p.Gln669His) c.3102G>T (p.Gln1034His) c.2817G>T (p.Gln939His) c.1284G>T (p.Gln428His) n.2047G>T | |
17 | g.63496964T>A | CA400567766 | ACE | c.3670T>A (p.Tyr1224Asn) c.1948T>A (p.Tyr650Asn) c.1825T>A (p.Tyr609Asn) n.680T>A c.*1425T>A (n.*1425T>A) c.*1399T>A (n.*1399T>A) c.357T>A n.544T>A c.3121T>A (p.Tyr1041Asn) c.2008T>A (p.Tyr670Asn) c.3103T>A (p.Tyr1035Asn) c.2818T>A (p.Tyr940Asn) c.1285T>A (p.Tyr429Asn) n.2048T>A | |
17 | g.63496964T>C | CA8700584 | ACE | c.3670T>C (p.Tyr1224His) c.1948T>C (p.Tyr650His) c.1825T>C (p.Tyr609His) n.680T>C c.*1425T>C (n.*1425T>C) c.*1399T>C (n.*1399T>C) c.357T>C n.544T>C c.3121T>C (p.Tyr1041His) c.2008T>C (p.Tyr670His) c.3103T>C (p.Tyr1035His) c.2818T>C (p.Tyr940His) c.1285T>C (p.Tyr429His) n.2048T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63496964T>G | CA400567770 | ACE | c.3670T>G (p.Tyr1224Asp) c.1948T>G (p.Tyr650Asp) c.1825T>G (p.Tyr609Asp) n.680T>G c.*1425T>G (n.*1425T>G) c.*1399T>G (n.*1399T>G) c.357T>G n.544T>G c.3121T>G (p.Tyr1041Asp) c.2008T>G (p.Tyr670Asp) c.3103T>G (p.Tyr1035Asp) c.2818T>G (p.Tyr940Asp) c.1285T>G (p.Tyr429Asp) n.2048T>G | |
17 | g.63496964T= | CA2269949837 | ACE | c.3670T= (p.Tyr1224=) c.1948T= (p.Tyr650=) c.1825T= (p.Tyr609=) n.680T= c.*1425T= (n.*1425T=) c.*1399T= (n.*1399T=) c.357T= n.544T= c.3121T= (p.Tyr1041=) c.2008T= (p.Tyr670=) c.3103T= (p.Tyr1035=) c.2818T= (p.Tyr940=) c.1285T= (p.Tyr429=) n.2048T= | |
17 | g.63496965A>C | CA400567775 | ACE | c.3671A>C (p.Tyr1224Ser) c.1949A>C (p.Tyr650Ser) c.1826A>C (p.Tyr609Ser) n.681A>C c.*1426A>C (n.*1426A>C) c.*1400A>C (n.*1400A>C) c.358A>C n.545A>C c.3122A>C (p.Tyr1041Ser) c.2009A>C (p.Tyr670Ser) c.3104A>C (p.Tyr1035Ser) c.2819A>C (p.Tyr940Ser) c.1286A>C (p.Tyr429Ser) n.2049A>C | |
17 | g.63496965A>G | CA400567778 | ACE | c.3671A>G (p.Tyr1224Cys) c.1949A>G (p.Tyr650Cys) c.1826A>G (p.Tyr609Cys) n.681A>G c.*1426A>G (n.*1426A>G) c.*1400A>G (n.*1400A>G) c.358A>G n.545A>G c.3122A>G (p.Tyr1041Cys) c.2009A>G (p.Tyr670Cys) c.3104A>G (p.Tyr1035Cys) c.2819A>G (p.Tyr940Cys) c.1286A>G (p.Tyr429Cys) n.2049A>G | |
17 | g.63496965A>T | CA400567773 | ACE | c.3671A>T (p.Tyr1224Phe) c.1949A>T (p.Tyr650Phe) c.1826A>T (p.Tyr609Phe) n.681A>T c.*1426A>T (n.*1426A>T) c.*1400A>T (n.*1400A>T) c.358A>T n.545A>T c.3122A>T (p.Tyr1041Phe) c.2009A>T (p.Tyr670Phe) c.3104A>T (p.Tyr1035Phe) c.2819A>T (p.Tyr940Phe) c.1286A>T (p.Tyr429Phe) n.2049A>T | |
17 | g.63496966C>A | CA400567780 | ACE | c.3672C>A (p.Tyr1224Ter) c.1950C>A (p.Tyr650Ter) c.1827C>A (p.Tyr609Ter) n.682C>A c.*1427C>A (n.*1427C>A) c.*1401C>A (n.*1401C>A) c.359C>A n.546C>A c.3123C>A (p.Tyr1041Ter) c.2010C>A (p.Tyr670Ter) c.3105C>A (p.Tyr1035Ter) c.2820C>A (p.Tyr940Ter) c.1287C>A (p.Tyr429Ter) n.2050C>A | |
17 | g.63496966C= | CA2269949838 | ACE | c.3672C= (p.Tyr1224=) c.1950C= (p.Tyr650=) c.1827C= (p.Tyr609=) n.682C= c.*1427C= (n.*1427C=) c.*1401C= (n.*1401C=) c.359C= n.546C= c.3123C= (p.Tyr1041=) c.2010C= (p.Tyr670=) c.3105C= (p.Tyr1035=) c.2820C= (p.Tyr940=) c.1287C= (p.Tyr429=) n.2050C= | |
17 | g.63496966C>G | CA400567784 | ACE | c.3672C>G (p.Tyr1224Ter) c.1950C>G (p.Tyr650Ter) c.1827C>G (p.Tyr609Ter) n.682C>G c.*1427C>G (n.*1427C>G) c.*1401C>G (n.*1401C>G) c.359C>G n.546C>G c.3123C>G (p.Tyr1041Ter) c.2010C>G (p.Tyr670Ter) c.3105C>G (p.Tyr1035Ter) c.2820C>G (p.Tyr940Ter) c.1287C>G (p.Tyr429Ter) n.2050C>G | |
17 | g.63496966C>T | CA292890176 | ACE | c.3672C>T (p.Tyr1224=) c.1950C>T (p.Tyr650=) c.1827C>T (p.Tyr609=) n.682C>T c.*1427C>T (n.*1427C>T) c.*1401C>T (n.*1401C>T) c.359C>T n.546C>T c.3123C>T (p.Tyr1041=) c.2010C>T (p.Tyr670=) c.3105C>T (p.Tyr1035=) c.2820C>T (p.Tyr940=) c.1287C>T (p.Tyr429=) n.2050C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63496967A>C | CA400567789 | ACE | c.3673A>C (p.Asn1225His) c.1951A>C (p.Asn651His) c.1828A>C (p.Asn610His) n.683A>C c.*1428A>C (n.*1428A>C) c.*1402A>C (n.*1402A>C) c.360A>C n.547A>C c.3124A>C (p.Asn1042His) c.2011A>C (p.Asn671His) c.3106A>C (p.Asn1036His) c.2821A>C (p.Asn941His) c.1288A>C (p.Asn430His) n.2051A>C | |
17 | g.63496967A>G | CA400567792 | ACE | c.3673A>G (p.Asn1225Asp) c.1951A>G (p.Asn651Asp) c.1828A>G (p.Asn610Asp) n.683A>G c.*1428A>G (n.*1428A>G) c.*1402A>G (n.*1402A>G) c.360A>G n.547A>G c.3124A>G (p.Asn1042Asp) c.2011A>G (p.Asn671Asp) c.3106A>G (p.Asn1036Asp) c.2821A>G (p.Asn941Asp) c.1288A>G (p.Asn430Asp) n.2051A>G | gnomAD v4 |
17 | g.63496967A>T | CA400567795 | ACE | c.3673A>T (p.Asn1225Tyr) c.1951A>T (p.Asn651Tyr) c.1828A>T (p.Asn610Tyr) n.683A>T c.*1428A>T (n.*1428A>T) c.*1402A>T (n.*1402A>T) c.360A>T n.547A>T c.3124A>T (p.Asn1042Tyr) c.2011A>T (p.Asn671Tyr) c.3106A>T (p.Asn1036Tyr) c.2821A>T (p.Asn941Tyr) c.1288A>T (p.Asn430Tyr) n.2051A>T | |
17 | g.63496968A= | CA2269949839 | ACE | c.3674A= (p.Asn1225=) c.1952A= (p.Asn651=) c.1829A= (p.Asn610=) n.684A= c.*1429A= (n.*1429A=) c.*1403A= (n.*1403A=) c.361A= n.548A= c.3125A= (p.Asn1042=) c.2012A= (p.Asn671=) c.3107A= (p.Asn1036=) c.2822A= (p.Asn941=) c.1289A= (p.Asn430=) n.2052A= | |
17 | g.63496968A>C | CA8700585 | ACE | c.3674A>C (p.Asn1225Thr) c.1952A>C (p.Asn651Thr) c.1829A>C (p.Asn610Thr) n.684A>C c.*1429A>C (n.*1429A>C) c.*1403A>C (n.*1403A>C) c.361A>C n.548A>C c.3125A>C (p.Asn1042Thr) c.2012A>C (p.Asn671Thr) c.3107A>C (p.Asn1036Thr) c.2822A>C (p.Asn941Thr) c.1289A>C (p.Asn430Thr) n.2052A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63496968A>G | CA400567803 | ACE | c.3674A>G (p.Asn1225Ser) c.1952A>G (p.Asn651Ser) c.1829A>G (p.Asn610Ser) n.684A>G c.*1429A>G (n.*1429A>G) c.*1403A>G (n.*1403A>G) c.361A>G n.548A>G c.3125A>G (p.Asn1042Ser) c.2012A>G (p.Asn671Ser) c.3107A>G (p.Asn1036Ser) c.2822A>G (p.Asn941Ser) c.1289A>G (p.Asn430Ser) n.2052A>G | |
17 | g.63496968A>T | CA400567800 | ACE | c.3674A>T (p.Asn1225Ile) c.1952A>T (p.Asn651Ile) c.1829A>T (p.Asn610Ile) n.684A>T c.*1429A>T (n.*1429A>T) c.*1403A>T (n.*1403A>T) c.361A>T n.548A>T c.3125A>T (p.Asn1042Ile) c.2012A>T (p.Asn671Ile) c.3107A>T (p.Asn1036Ile) c.2822A>T (p.Asn941Ile) c.1289A>T (p.Asn430Ile) n.2052A>T | |
17 | g.63496969C>A | CA292890178 | ACE | c.3675C>A (p.Asn1225Lys) c.1953C>A (p.Asn651Lys) c.1830C>A (p.Asn610Lys) n.685C>A c.*1430C>A (n.*1430C>A) c.*1404C>A (n.*1404C>A) c.362C>A n.549C>A c.3126C>A (p.Asn1042Lys) c.2013C>A (p.Asn671Lys) c.3108C>A (p.Asn1036Lys) c.2823C>A (p.Asn941Lys) c.1290C>A (p.Asn430Lys) n.2053C>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63496969C= | CA2269949840 | ACE | c.3675C= (p.Asn1225=) c.1953C= (p.Asn651=) c.1830C= (p.Asn610=) n.685C= c.*1430C= (n.*1430C=) c.*1404C= (n.*1404C=) c.362C= n.549C= c.3126C= (p.Asn1042=) c.2013C= (p.Asn671=) c.3108C= (p.Asn1036=) c.2823C= (p.Asn941=) c.1290C= (p.Asn430=) n.2053C= | |
17 | g.63496969C>G | CA400567809 | ACE | c.3675C>G (p.Asn1225Lys) c.1953C>G (p.Asn651Lys) c.1830C>G (p.Asn610Lys) n.685C>G c.*1430C>G (n.*1430C>G) c.*1404C>G (n.*1404C>G) c.362C>G n.549C>G c.3126C>G (p.Asn1042Lys) c.2013C>G (p.Asn671Lys) c.3108C>G (p.Asn1036Lys) c.2823C>G (p.Asn941Lys) c.1290C>G (p.Asn430Lys) n.2053C>G | |
17 | g.63496969C>T | CA292890180 | ACE | c.3675C>T (p.Asn1225=) c.1953C>T (p.Asn651=) c.1830C>T (p.Asn610=) n.685C>T c.*1430C>T (n.*1430C>T) c.*1404C>T (n.*1404C>T) c.362C>T n.549C>T c.3126C>T (p.Asn1042=) c.2013C>T (p.Asn671=) c.3108C>T (p.Asn1036=) c.2823C>T (p.Asn941=) c.1290C>T (p.Asn430=) n.2053C>T | dbSNP |
17 | g.63496970T>A | CA400567811 | ACE | c.3676T>A (p.Trp1226Arg) c.1954T>A (p.Trp652Arg) c.1831T>A (p.Trp611Arg) n.686T>A c.*1431T>A (n.*1431T>A) c.*1405T>A (n.*1405T>A) c.363T>A n.550T>A c.3127T>A (p.Trp1043Arg) c.2014T>A (p.Trp672Arg) c.3109T>A (p.Trp1037Arg) c.2824T>A (p.Trp942Arg) c.1291T>A (p.Trp431Arg) n.2054T>A | gnomAD v4 |
17 | g.63496970T>C | CA400567814 | ACE | c.3676T>C (p.Trp1226Arg) c.1954T>C (p.Trp652Arg) c.1831T>C (p.Trp611Arg) n.686T>C c.*1431T>C (n.*1431T>C) c.*1405T>C (n.*1405T>C) c.363T>C n.550T>C c.3127T>C (p.Trp1043Arg) c.2014T>C (p.Trp672Arg) c.3109T>C (p.Trp1037Arg) c.2824T>C (p.Trp942Arg) c.1291T>C (p.Trp431Arg) n.2054T>C | gnomAD v4 |
17 | g.63496970T>G | CA400567816 | ACE | c.3676T>G (p.Trp1226Gly) c.1954T>G (p.Trp652Gly) c.1831T>G (p.Trp611Gly) n.686T>G c.*1431T>G (n.*1431T>G) c.*1405T>G (n.*1405T>G) c.363T>G n.550T>G c.3127T>G (p.Trp1043Gly) c.2014T>G (p.Trp672Gly) c.3109T>G (p.Trp1037Gly) c.2824T>G (p.Trp942Gly) c.1291T>G (p.Trp431Gly) n.2054T>G | |
17 | g.63496971G>A | CA400567821 | ACE | c.3677G>A (p.Trp1226Ter) c.1955G>A (p.Trp652Ter) c.1832G>A (p.Trp611Ter) n.687G>A c.*1432G>A (n.*1432G>A) c.*1406G>A (n.*1406G>A) c.364G>A n.551G>A c.3128G>A (p.Trp1043Ter) c.2015G>A (p.Trp672Ter) c.3110G>A (p.Trp1037Ter) c.2825G>A (p.Trp942Ter) c.1292G>A (p.Trp431Ter) n.2055G>A | gnomAD v4 |
17 | g.63496971G>C | CA400567824 | ACE | c.3677G>C (p.Trp1226Ser) c.1955G>C (p.Trp652Ser) c.1832G>C (p.Trp611Ser) n.687G>C c.*1432G>C (n.*1432G>C) c.*1406G>C (n.*1406G>C) c.364G>C n.551G>C c.3128G>C (p.Trp1043Ser) c.2015G>C (p.Trp672Ser) c.3110G>C (p.Trp1037Ser) c.2825G>C (p.Trp942Ser) c.1292G>C (p.Trp431Ser) n.2055G>C | |
17 | g.63496971G>T | CA400567819 | ACE | c.3677G>T (p.Trp1226Leu) c.1955G>T (p.Trp652Leu) c.1832G>T (p.Trp611Leu) n.687G>T c.*1432G>T (n.*1432G>T) c.*1406G>T (n.*1406G>T) c.364G>T n.551G>T c.3128G>T (p.Trp1043Leu) c.2015G>T (p.Trp672Leu) c.3110G>T (p.Trp1037Leu) c.2825G>T (p.Trp942Leu) c.1292G>T (p.Trp431Leu) n.2055G>T | |
17 | g.63496972G>A | CA292890184 | ACE | c.3678G>A (p.Trp1226Ter) c.1956G>A (p.Trp652Ter) c.1833G>A (p.Trp611Ter) n.688G>A c.*1433G>A (n.*1433G>A) c.*1407G>A (n.*1407G>A) c.365G>A n.552G>A c.3129G>A (p.Trp1043Ter) c.2016G>A (p.Trp672Ter) c.3111G>A (p.Trp1037Ter) c.2826G>A (p.Trp942Ter) c.1293G>A (p.Trp431Ter) n.2056G>A | dbSNP gnomAD v4 |
17 | g.63496972G>C | CA8700586 | ACE | c.3678G>C (p.Trp1226Cys) c.1956G>C (p.Trp652Cys) c.1833G>C (p.Trp611Cys) n.688G>C c.*1433G>C (n.*1433G>C) c.*1407G>C (n.*1407G>C) c.365G>C n.552G>C c.3129G>C (p.Trp1043Cys) c.2016G>C (p.Trp672Cys) c.3111G>C (p.Trp1037Cys) c.2826G>C (p.Trp942Cys) c.1293G>C (p.Trp431Cys) n.2056G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496972G= | CA2269949841 | ACE | c.3678G= (p.Trp1226=) c.1956G= (p.Trp652=) c.1833G= (p.Trp611=) n.688G= c.*1433G= (n.*1433G=) c.*1407G= (n.*1407G=) c.365G= n.552G= c.3129G= (p.Trp1043=) c.2016G= (p.Trp672=) c.3111G= (p.Trp1037=) c.2826G= (p.Trp942=) c.1293G= (p.Trp431=) n.2056G= | |
17 | g.63496972G>T | CA400567831 | ACE | c.3678G>T (p.Trp1226Cys) c.1956G>T (p.Trp652Cys) c.1833G>T (p.Trp611Cys) n.688G>T c.*1433G>T (n.*1433G>T) c.*1407G>T (n.*1407G>T) c.365G>T n.552G>T c.3129G>T (p.Trp1043Cys) c.2016G>T (p.Trp672Cys) c.3111G>T (p.Trp1037Cys) c.2826G>T (p.Trp942Cys) c.1293G>T (p.Trp431Cys) n.2056G>T | |
17 | g.63496973A= | CA2269949842 | ACE | c.3679A= (p.Thr1227=) c.1957A= (p.Thr653=) c.1834A= (p.Thr612=) n.689A= c.*1434A= (n.*1434A=) c.*1408A= (n.*1408A=) c.366A= n.553A= c.3130A= (p.Thr1044=) c.2017A= (p.Thr673=) c.3112A= (p.Thr1038=) c.2827A= (p.Thr943=) c.1294A= (p.Thr432=) n.2057A= | |
17 | g.63496973A>C | CA400567835 | ACE | c.3679A>C (p.Thr1227Pro) c.1957A>C (p.Thr653Pro) c.1834A>C (p.Thr612Pro) n.689A>C c.*1434A>C (n.*1434A>C) c.*1408A>C (n.*1408A>C) c.366A>C n.553A>C c.3130A>C (p.Thr1044Pro) c.2017A>C (p.Thr673Pro) c.3112A>C (p.Thr1038Pro) c.2827A>C (p.Thr943Pro) c.1294A>C (p.Thr432Pro) n.2057A>C | |
17 | g.63496973A>G | CA8700587 | ACE | c.3679A>G (p.Thr1227Ala) c.1957A>G (p.Thr653Ala) c.1834A>G (p.Thr612Ala) n.689A>G c.*1434A>G (n.*1434A>G) c.*1408A>G (n.*1408A>G) c.366A>G n.553A>G c.3130A>G (p.Thr1044Ala) c.2017A>G (p.Thr673Ala) c.3112A>G (p.Thr1038Ala) c.2827A>G (p.Thr943Ala) c.1294A>G (p.Thr432Ala) n.2057A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63496973A>T | CA400567841 | ACE | c.3679A>T (p.Thr1227Ser) c.1957A>T (p.Thr653Ser) c.1834A>T (p.Thr612Ser) n.689A>T c.*1434A>T (n.*1434A>T) c.*1408A>T (n.*1408A>T) c.366A>T n.553A>T c.3130A>T (p.Thr1044Ser) c.2017A>T (p.Thr673Ser) c.3112A>T (p.Thr1038Ser) c.2827A>T (p.Thr943Ser) c.1294A>T (p.Thr432Ser) n.2057A>T | |
17 | g.63496974C>A | CA8700589 | ACE | c.3680C>A (p.Thr1227Lys) c.1958C>A (p.Thr653Lys) c.1835C>A (p.Thr612Lys) n.690C>A c.*1435C>A (n.*1435C>A) c.*1409C>A (n.*1409C>A) c.367C>A n.554C>A c.3131C>A (p.Thr1044Lys) c.2018C>A (p.Thr673Lys) c.3113C>A (p.Thr1038Lys) c.2828C>A (p.Thr943Lys) c.1295C>A (p.Thr432Lys) n.2058C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63496974C= | CA2269949843 | ACE | c.3680C= (p.Thr1227=) c.1958C= (p.Thr653=) c.1835C= (p.Thr612=) n.690C= c.*1435C= (n.*1435C=) c.*1409C= (n.*1409C=) c.367C= n.554C= c.3131C= (p.Thr1044=) c.2018C= (p.Thr673=) c.3113C= (p.Thr1038=) c.2828C= (p.Thr943=) c.1295C= (p.Thr432=) n.2058C= | |
17 | g.63496974C>G | CA400567846 | ACE | c.3680C>G (p.Thr1227Arg) c.1958C>G (p.Thr653Arg) c.1835C>G (p.Thr612Arg) n.690C>G c.*1435C>G (n.*1435C>G) c.*1409C>G (n.*1409C>G) c.367C>G n.554C>G c.3131C>G (p.Thr1044Arg) c.2018C>G (p.Thr673Arg) c.3113C>G (p.Thr1038Arg) c.2828C>G (p.Thr943Arg) c.1295C>G (p.Thr432Arg) n.2058C>G | gnomAD v3 gnomAD v4 |
17 | g.63496974C>T | CA8700588 | ACE | c.3680C>T (p.Thr1227Met) c.1958C>T (p.Thr653Met) c.1835C>T (p.Thr612Met) n.690C>T c.*1435C>T (n.*1435C>T) c.*1409C>T (n.*1409C>T) c.367C>T n.554C>T c.3131C>T (p.Thr1044Met) c.2018C>T (p.Thr673Met) c.3113C>T (p.Thr1038Met) c.2828C>T (p.Thr943Met) c.1295C>T (p.Thr432Met) n.2058C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496978_63496993del | CA2810114605 | ACE | c.3684_3691+8del c.1962_1969+8del c.1839_1846+8del c.3684_3699del (p.Asn1229ProfsTer?) n.694_701+8del c.*1439_*1446+8del c.*1413_*1420+8del c.371_386del c.3135_3142+8del c.2022_2029+8del c.3117_3124+8del c.2832_2839+8del c.1299_1306+8del n.2062_2069+8del | |
17 | g.63496975G>A | CA8700590 | ACE | c.3681G>A (p.Thr1227=) c.1959G>A (p.Thr653=) c.1836G>A (p.Thr612=) n.691G>A c.*1436G>A (n.*1436G>A) c.*1410G>A (n.*1410G>A) c.368G>A n.555G>A c.3132G>A (p.Thr1044=) c.2019G>A (p.Thr673=) c.3114G>A (p.Thr1038=) c.2829G>A (p.Thr943=) c.1296G>A (p.Thr432=) n.2059G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63496975G>C | CA501342459 | ACE | c.3681G>C (p.Thr1227=) c.1959G>C (p.Thr653=) c.1836G>C (p.Thr612=) n.691G>C c.*1436G>C (n.*1436G>C) c.*1410G>C (n.*1410G>C) c.368G>C n.555G>C c.3132G>C (p.Thr1044=) c.2019G>C (p.Thr673=) c.3114G>C (p.Thr1038=) c.2829G>C (p.Thr943=) c.1296G>C (p.Thr432=) n.2059G>C | |
17 | g.63496975G= | CA2269949844 | ACE | c.3681G= (p.Thr1227=) c.1959G= (p.Thr653=) c.1836G= (p.Thr612=) n.691G= c.*1436G= (n.*1436G=) c.*1410G= (n.*1410G=) c.368G= n.555G= c.3132G= (p.Thr1044=) c.2019G= (p.Thr673=) c.3114G= (p.Thr1038=) c.2829G= (p.Thr943=) c.1296G= (p.Thr432=) n.2059G= | |
17 | g.63496975G>T | CA501342458 | ACE | c.3681G>T (p.Thr1227=) c.1959G>T (p.Thr653=) c.1836G>T (p.Thr612=) n.691G>T c.*1436G>T (n.*1436G>T) c.*1410G>T (n.*1410G>T) c.368G>T n.555G>T c.3132G>T (p.Thr1044=) c.2019G>T (p.Thr673=) c.3114G>T (p.Thr1038=) c.2829G>T (p.Thr943=) c.1296G>T (p.Thr432=) n.2059G>T | gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.63496976C>A | CA292890187 | ACE | c.3682C>A (p.Pro1228Thr) c.1960C>A (p.Pro654Thr) c.1837C>A (p.Pro613Thr) n.692C>A c.*1437C>A (n.*1437C>A) c.*1411C>A (n.*1411C>A) c.369C>A n.556C>A c.3133C>A (p.Pro1045Thr) c.2020C>A (p.Pro674Thr) c.3115C>A (p.Pro1039Thr) c.2830C>A (p.Pro944Thr) c.1297C>A (p.Pro433Thr) n.2060C>A | dbSNP |
17 | g.63496976C= | CA2269949845 | ACE | c.3682C= (p.Pro1228=) c.1960C= (p.Pro654=) c.1837C= (p.Pro613=) n.692C= c.*1437C= (n.*1437C=) c.*1411C= (n.*1411C=) c.369C= n.556C= c.3133C= (p.Pro1045=) c.2020C= (p.Pro674=) c.3115C= (p.Pro1039=) c.2830C= (p.Pro944=) c.1297C= (p.Pro433=) n.2060C= | |
17 | g.63496976C>G | CA400567855 | ACE | c.3682C>G (p.Pro1228Ala) c.1960C>G (p.Pro654Ala) c.1837C>G (p.Pro613Ala) n.692C>G c.*1437C>G (n.*1437C>G) c.*1411C>G (n.*1411C>G) c.369C>G n.556C>G c.3133C>G (p.Pro1045Ala) c.2020C>G (p.Pro674Ala) c.3115C>G (p.Pro1039Ala) c.2830C>G (p.Pro944Ala) c.1297C>G (p.Pro433Ala) n.2060C>G | |
17 | g.63496976C>T | CA400567858 | ACE | c.3682C>T (p.Pro1228Ser) c.1960C>T (p.Pro654Ser) c.1837C>T (p.Pro613Ser) n.692C>T c.*1437C>T (n.*1437C>T) c.*1411C>T (n.*1411C>T) c.369C>T n.556C>T c.3133C>T (p.Pro1045Ser) c.2020C>T (p.Pro674Ser) c.3115C>T (p.Pro1039Ser) c.2830C>T (p.Pro944Ser) c.1297C>T (p.Pro433Ser) n.2060C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.63496977C>A | CA400567861 | ACE | c.3683C>A (p.Pro1228Gln) c.1961C>A (p.Pro654Gln) c.1838C>A (p.Pro613Gln) n.693C>A c.*1438C>A (n.*1438C>A) c.*1412C>A (n.*1412C>A) c.370C>A n.557C>A c.3134C>A (p.Pro1045Gln) c.2021C>A (p.Pro674Gln) c.3116C>A (p.Pro1039Gln) c.2831C>A (p.Pro944Gln) c.1298C>A (p.Pro433Gln) n.2061C>A | |
17 | g.63496977C= | CA2269949846 | ACE | c.3683C= (p.Pro1228=) c.1961C= (p.Pro654=) c.1838C= (p.Pro613=) n.693C= c.*1438C= (n.*1438C=) c.*1412C= (n.*1412C=) c.370C= n.557C= c.3134C= (p.Pro1045=) c.2021C= (p.Pro674=) c.3116C= (p.Pro1039=) c.2831C= (p.Pro944=) c.1298C= (p.Pro433=) n.2061C= | |
17 | g.63496977C>G | CA400567877 | ACE | c.3683C>G (p.Pro1228Arg) c.1961C>G (p.Pro654Arg) c.1838C>G (p.Pro613Arg) n.693C>G c.*1438C>G (n.*1438C>G) c.*1412C>G (n.*1412C>G) c.370C>G n.557C>G c.3134C>G (p.Pro1045Arg) c.2021C>G (p.Pro674Arg) c.3116C>G (p.Pro1039Arg) c.2831C>G (p.Pro944Arg) c.1298C>G (p.Pro433Arg) n.2061C>G | |
17 | g.63496977C>T | CA127773 | ACE | c.3683C>T (p.Pro1228Leu) c.1961C>T (p.Pro654Leu) c.1838C>T (p.Pro613Leu) n.693C>T c.*1438C>T (n.*1438C>T) c.*1412C>T (n.*1412C>T) c.370C>T n.557C>T c.3134C>T (p.Pro1045Leu) c.2021C>T (p.Pro674Leu) c.3116C>T (p.Pro1039Leu) c.2831C>T (p.Pro944Leu) c.1298C>T (p.Pro433Leu) n.2061C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496978G>A | CA8700591 | ACE | c.3684G>A (p.Pro1228=) c.1962G>A (p.Pro654=) c.1839G>A (p.Pro613=) n.694G>A c.*1439G>A (n.*1439G>A) c.*1413G>A (n.*1413G>A) c.371G>A n.558G>A c.3135G>A (p.Pro1045=) c.2022G>A (p.Pro674=) c.3117G>A (p.Pro1039=) c.2832G>A (p.Pro944=) c.1299G>A (p.Pro433=) n.2062G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63496978G>C | CA501342460 | ACE | c.3684G>C (p.Pro1228=) c.1962G>C (p.Pro654=) c.1839G>C (p.Pro613=) n.694G>C c.*1439G>C (n.*1439G>C) c.*1413G>C (n.*1413G>C) c.371G>C n.558G>C c.3135G>C (p.Pro1045=) c.2022G>C (p.Pro674=) c.3117G>C (p.Pro1039=) c.2832G>C (p.Pro944=) c.1299G>C (p.Pro433=) n.2062G>C | gnomAD v4 |
17 | g.63496978G= | CA2269949847 | ACE | c.3684G= (p.Pro1228=) c.1962G= (p.Pro654=) c.1839G= (p.Pro613=) n.694G= c.*1439G= (n.*1439G=) c.*1413G= (n.*1413G=) c.371G= n.558G= c.3135G= (p.Pro1045=) c.2022G= (p.Pro674=) c.3117G= (p.Pro1039=) c.2832G= (p.Pro944=) c.1299G= (p.Pro433=) n.2062G= | |
17 | g.63496978G>T | CA501342461 | ACE | c.3684G>T (p.Pro1228=) c.1962G>T (p.Pro654=) c.1839G>T (p.Pro613=) n.694G>T c.*1439G>T (n.*1439G>T) c.*1413G>T (n.*1413G>T) c.371G>T n.558G>T c.3135G>T (p.Pro1045=) c.2022G>T (p.Pro674=) c.3117G>T (p.Pro1039=) c.2832G>T (p.Pro944=) c.1299G>T (p.Pro433=) n.2062G>T | |
17 | g.63496979A>C | CA400567888 | ACE | c.3685A>C (p.Asn1229His) c.1963A>C (p.Asn655His) c.1840A>C (p.Asn614His) n.695A>C c.*1440A>C (n.*1440A>C) c.*1414A>C (n.*1414A>C) c.372A>C n.559A>C c.3136A>C (p.Asn1046His) c.2023A>C (p.Asn675His) c.3118A>C (p.Asn1040His) c.2833A>C (p.Asn945His) c.1300A>C (p.Asn434His) n.2063A>C | |
17 | g.63496979A>G | CA400567894 | ACE | c.3685A>G (p.Asn1229Asp) c.1963A>G (p.Asn655Asp) c.1840A>G (p.Asn614Asp) n.695A>G c.*1440A>G (n.*1440A>G) c.*1414A>G (n.*1414A>G) c.372A>G n.559A>G c.3136A>G (p.Asn1046Asp) c.2023A>G (p.Asn675Asp) c.3118A>G (p.Asn1040Asp) c.2833A>G (p.Asn945Asp) c.1300A>G (p.Asn434Asp) n.2063A>G | |
17 | g.63496979A>T | CA400567891 | ACE | c.3685A>T (p.Asn1229Tyr) c.1963A>T (p.Asn655Tyr) c.1840A>T (p.Asn614Tyr) n.695A>T c.*1440A>T (n.*1440A>T) c.*1414A>T (n.*1414A>T) c.372A>T n.559A>T c.3136A>T (p.Asn1046Tyr) c.2023A>T (p.Asn675Tyr) c.3118A>T (p.Asn1040Tyr) c.2833A>T (p.Asn945Tyr) c.1300A>T (p.Asn434Tyr) n.2063A>T | |
17 | g.63496980A= | CA2269949848 | ACE | c.3686A= (p.Asn1229=) c.1964A= (p.Asn655=) c.1841A= (p.Asn614=) n.696A= c.*1441A= (n.*1441A=) c.*1415A= (n.*1415A=) c.373A= n.560A= c.3137A= (p.Asn1046=) c.2024A= (p.Asn675=) c.3119A= (p.Asn1040=) c.2834A= (p.Asn945=) c.1301A= (p.Asn434=) n.2064A= | |
17 | g.63496980A>C | CA400567897 | ACE | c.3686A>C (p.Asn1229Thr) c.1964A>C (p.Asn655Thr) c.1841A>C (p.Asn614Thr) n.696A>C c.*1441A>C (n.*1441A>C) c.*1415A>C (n.*1415A>C) c.373A>C n.560A>C c.3137A>C (p.Asn1046Thr) c.2024A>C (p.Asn675Thr) c.3119A>C (p.Asn1040Thr) c.2834A>C (p.Asn945Thr) c.1301A>C (p.Asn434Thr) n.2064A>C | |
17 | g.63496980A>G | CA8700592 | ACE | c.3686A>G (p.Asn1229Ser) c.1964A>G (p.Asn655Ser) c.1841A>G (p.Asn614Ser) n.696A>G c.*1441A>G (n.*1441A>G) c.*1415A>G (n.*1415A>G) c.373A>G n.560A>G c.3137A>G (p.Asn1046Ser) c.2024A>G (p.Asn675Ser) c.3119A>G (p.Asn1040Ser) c.2834A>G (p.Asn945Ser) c.1301A>G (p.Asn434Ser) n.2064A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63496980A>T | CA400567901 | ACE | c.3686A>T (p.Asn1229Ile) c.1964A>T (p.Asn655Ile) c.1841A>T (p.Asn614Ile) n.696A>T c.*1441A>T (n.*1441A>T) c.*1415A>T (n.*1415A>T) c.373A>T n.560A>T c.3137A>T (p.Asn1046Ile) c.2024A>T (p.Asn675Ile) c.3119A>T (p.Asn1040Ile) c.2834A>T (p.Asn945Ile) c.1301A>T (p.Asn434Ile) n.2064A>T | |
17 | g.63496981C>A | CA400567906 | ACE | c.3687C>A (p.Asn1229Lys) c.1965C>A (p.Asn655Lys) c.1842C>A (p.Asn614Lys) n.697C>A c.*1442C>A (n.*1442C>A) c.*1416C>A (n.*1416C>A) c.374C>A n.561C>A c.3138C>A (p.Asn1046Lys) c.2025C>A (p.Asn675Lys) c.3120C>A (p.Asn1040Lys) c.2835C>A (p.Asn945Lys) c.1302C>A (p.Asn434Lys) n.2065C>A | |
17 | g.63496981C>G | CA400567908 | ACE | c.3687C>G (p.Asn1229Lys) c.1965C>G (p.Asn655Lys) c.1842C>G (p.Asn614Lys) n.697C>G c.*1442C>G (n.*1442C>G) c.*1416C>G (n.*1416C>G) c.374C>G n.561C>G c.3138C>G (p.Asn1046Lys) c.2025C>G (p.Asn675Lys) c.3120C>G (p.Asn1040Lys) c.2835C>G (p.Asn945Lys) c.1302C>G (p.Asn434Lys) n.2065C>G | gnomAD v4 |
17 | g.63496981C>T | CA501342462 | ACE | c.3687C>T (p.Asn1229=) c.1965C>T (p.Asn655=) c.1842C>T (p.Asn614=) n.697C>T c.*1442C>T (n.*1442C>T) c.*1416C>T (n.*1416C>T) c.374C>T n.561C>T c.3138C>T (p.Asn1046=) c.2025C>T (p.Asn675=) c.3120C>T (p.Asn1040=) c.2835C>T (p.Asn945=) c.1302C>T (p.Asn434=) n.2065C>T | |
17 | g.63496982T>A | CA400567912 | ACE | c.3688T>A (p.Ser1230Thr) c.1966T>A (p.Ser656Thr) c.1843T>A (p.Ser615Thr) n.698T>A c.*1443T>A (n.*1443T>A) c.*1417T>A (n.*1417T>A) c.375T>A n.562T>A c.3139T>A (p.Ser1047Thr) c.2026T>A (p.Ser676Thr) c.3121T>A (p.Ser1041Thr) c.2836T>A (p.Ser946Thr) c.1303T>A (p.Ser435Thr) n.2066T>A | gnomAD v4 |
17 | g.63496982T>C | CA400567915 | ACE | c.3688T>C (p.Ser1230Pro) c.1966T>C (p.Ser656Pro) c.1843T>C (p.Ser615Pro) n.698T>C c.*1443T>C (n.*1443T>C) c.*1417T>C (n.*1417T>C) c.375T>C n.562T>C c.3139T>C (p.Ser1047Pro) c.2026T>C (p.Ser676Pro) c.3121T>C (p.Ser1041Pro) c.2836T>C (p.Ser946Pro) c.1303T>C (p.Ser435Pro) n.2066T>C | gnomAD v4 |
17 | g.63496982T>G | CA400567918 | ACE | c.3688T>G (p.Ser1230Ala) c.1966T>G (p.Ser656Ala) c.1843T>G (p.Ser615Ala) n.698T>G c.*1443T>G (n.*1443T>G) c.*1417T>G (n.*1417T>G) c.375T>G n.562T>G c.3139T>G (p.Ser1047Ala) c.2026T>G (p.Ser676Ala) c.3121T>G (p.Ser1041Ala) c.2836T>G (p.Ser946Ala) c.1303T>G (p.Ser435Ala) n.2066T>G | gnomAD v4 |
17 | g.63496983C>A | CA8700593 | ACE | c.3689C>A (p.Ser1230Tyr) c.1967C>A (p.Ser656Tyr) c.1844C>A (p.Ser615Tyr) n.699C>A c.*1444C>A (n.*1444C>A) c.*1418C>A (n.*1418C>A) c.376C>A n.563C>A c.3140C>A (p.Ser1047Tyr) c.2027C>A (p.Ser676Tyr) c.3122C>A (p.Ser1041Tyr) c.2837C>A (p.Ser946Tyr) c.1304C>A (p.Ser435Tyr) n.2067C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63496983C= | CA2269949849 | ACE | c.3689C= (p.Ser1230=) c.1967C= (p.Ser656=) c.1844C= (p.Ser615=) n.699C= c.*1444C= (n.*1444C=) c.*1418C= (n.*1418C=) c.376C= n.563C= c.3140C= (p.Ser1047=) c.2027C= (p.Ser676=) c.3122C= (p.Ser1041=) c.2837C= (p.Ser946=) c.1304C= (p.Ser435=) n.2067C= | |
17 | g.63496983C>G | CA400567923 | ACE | c.3689C>G (p.Ser1230Cys) c.1967C>G (p.Ser656Cys) c.1844C>G (p.Ser615Cys) n.699C>G c.*1444C>G (n.*1444C>G) c.*1418C>G (n.*1418C>G) c.376C>G n.563C>G c.3140C>G (p.Ser1047Cys) c.2027C>G (p.Ser676Cys) c.3122C>G (p.Ser1041Cys) c.2837C>G (p.Ser946Cys) c.1304C>G (p.Ser435Cys) n.2067C>G | |
17 | g.63496983C>T | CA292890204 | ACE | c.3689C>T (p.Ser1230Phe) c.1967C>T (p.Ser656Phe) c.1844C>T (p.Ser615Phe) n.699C>T c.*1444C>T (n.*1444C>T) c.*1418C>T (n.*1418C>T) c.376C>T n.563C>T c.3140C>T (p.Ser1047Phe) c.2027C>T (p.Ser676Phe) c.3122C>T (p.Ser1041Phe) c.2837C>T (p.Ser946Phe) c.1304C>T (p.Ser435Phe) n.2067C>T | ClinVar dbSNP gnomAD v4 |
17 | g.63496984C>A | CA501342463 | ACE | c.3690C>A (p.Ser1230=) c.1968C>A (p.Ser656=) c.1845C>A (p.Ser615=) n.700C>A c.*1445C>A (n.*1445C>A) c.*1419C>A (n.*1419C>A) c.377C>A n.564C>A c.3141C>A (p.Ser1047=) c.2028C>A (p.Ser676=) c.3123C>A (p.Ser1041=) c.2838C>A (p.Ser946=) c.1305C>A (p.Ser435=) n.2068C>A | gnomAD v4 |
17 | g.63496984C= | CA2269949850 | ACE | c.3690C= (p.Ser1230=) c.1968C= (p.Ser656=) c.1845C= (p.Ser615=) n.700C= c.*1445C= (n.*1445C=) c.*1419C= (n.*1419C=) c.377C= n.564C= c.3141C= (p.Ser1047=) c.2028C= (p.Ser676=) c.3123C= (p.Ser1041=) c.2838C= (p.Ser946=) c.1305C= (p.Ser435=) n.2068C= | |
17 | g.63496984C>G | CA501342464 | ACE | c.3690C>G (p.Ser1230=) c.1968C>G (p.Ser656=) c.1845C>G (p.Ser615=) n.700C>G c.*1445C>G (n.*1445C>G) c.*1419C>G (n.*1419C>G) c.377C>G n.564C>G c.3141C>G (p.Ser1047=) c.2028C>G (p.Ser676=) c.3123C>G (p.Ser1041=) c.2838C>G (p.Ser946=) c.1305C>G (p.Ser435=) n.2068C>G | |
17 | g.63496984C>T | CA8700594 | ACE | c.3690C>T (p.Ser1230=) c.1968C>T (p.Ser656=) c.1845C>T (p.Ser615=) n.700C>T c.*1445C>T (n.*1445C>T) c.*1419C>T (n.*1419C>T) c.377C>T n.564C>T c.3141C>T (p.Ser1047=) c.2028C>T (p.Ser676=) c.3123C>T (p.Ser1041=) c.2838C>T (p.Ser946=) c.1305C>T (p.Ser435=) n.2068C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |