Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63486597_63486617del | CA2639263163 | ACE | c.2099_2119del (p.Tyr700_Lys706del) c.377_397del (p.Tyr126_Lys132del) c.*169_*189del (n.*169_*189del) c.280_300del (n.280_300del) c.661_681del c.*19_*39del (n.*19_*39del) c.1550_1570del (p.Tyr517_Lys523del) c.437_457del (p.Tyr146_Lys152del) c.1532_1552del (p.Tyr511_Lys517del) c.1247_1267del (p.Tyr416_Lys422del) c.29_49del (p.Tyr10_Lys16del) n.399_419del | gnomAD v4 |
17 | g.63486612G>A | CA400555881 | ACE | c.2114G>A (p.Arg705Lys) c.392G>A (p.Arg131Lys) c.*184G>A (n.*184G>A) c.295G>A (n.295G>A) c.676G>A c.*34G>A (n.*34G>A) c.1565G>A (p.Arg522Lys) c.452G>A (p.Arg151Lys) c.1547G>A (p.Arg516Lys) c.1262G>A (p.Arg421Lys) c.44G>A (p.Arg15Lys) n.414G>A | dbSNP |
17 | g.63486612G>C | CA400555879 | ACE | c.2114G>C (p.Arg705Thr) c.392G>C (p.Arg131Thr) c.*184G>C (n.*184G>C) c.295G>C (n.295G>C) c.676G>C c.*34G>C (n.*34G>C) c.1565G>C (p.Arg522Thr) c.452G>C (p.Arg151Thr) c.1547G>C (p.Arg516Thr) c.1262G>C (p.Arg421Thr) c.44G>C (p.Arg15Thr) n.414G>C | COSMIC COSMIC COSMIC |
17 | g.63486612G= | CA2269944848 | ACE | c.2114G= (p.Arg705=) c.392G= (p.Arg131=) c.*184G= (n.*184G=) c.295G= (n.295G=) c.676G= c.*34G= (n.*34G=) c.1565G= (p.Arg522=) c.452G= (p.Arg151=) c.1547G= (p.Arg516=) c.1262G= (p.Arg421=) c.44G= (p.Arg15=) n.414G= | |
17 | g.63486612G>T | CA400555877 | ACE | c.2114G>T (p.Arg705Met) c.392G>T (p.Arg131Met) c.*184G>T (n.*184G>T) c.295G>T (n.295G>T) c.676G>T c.*34G>T (n.*34G>T) c.1565G>T (p.Arg522Met) c.452G>T (p.Arg151Met) c.1547G>T (p.Arg516Met) c.1262G>T (p.Arg421Met) c.44G>T (p.Arg15Met) n.414G>T | |
17 | g.63486613del | CA2810114342 | ACE | c.2115del (p.Lys706SerfsTer4) c.393del (p.Lys132SerfsTer4) c.*185del (n.*185del) c.296del (n.296del) c.677del c.*35del (n.*35del) c.1566del (p.Lys523SerfsTer4) c.453del (p.Lys152SerfsTer4) c.1548del (p.Lys517SerfsTer4) c.1263del (p.Lys422SerfsTer4) c.45del (p.Lys16SerfsTer4) n.415del | |
17 | g.63486613G>A | CA501184162 | ACE | c.2115G>A (p.Arg705=) c.393G>A (p.Arg131=) c.*185G>A (n.*185G>A) c.296G>A (n.296G>A) c.677G>A c.*35G>A (n.*35G>A) c.1566G>A (p.Arg522=) c.453G>A (p.Arg151=) c.1548G>A (p.Arg516=) c.1263G>A (p.Arg421=) c.45G>A (p.Arg15=) n.415G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.63486613G>C | CA400555883 | ACE | c.2115G>C (p.Arg705Ser) c.393G>C (p.Arg131Ser) c.*185G>C (n.*185G>C) c.296G>C (n.296G>C) c.677G>C c.*35G>C (n.*35G>C) c.1566G>C (p.Arg522Ser) c.453G>C (p.Arg151Ser) c.1548G>C (p.Arg516Ser) c.1263G>C (p.Arg421Ser) c.45G>C (p.Arg15Ser) n.415G>C | |
17 | g.63486613G= | CA2269944849 | ACE | c.2115G= (p.Arg705=) c.393G= (p.Arg131=) c.*185G= (n.*185G=) c.296G= (n.296G=) c.677G= c.*35G= (n.*35G=) c.1566G= (p.Arg522=) c.453G= (p.Arg151=) c.1548G= (p.Arg516=) c.1263G= (p.Arg421=) c.45G= (p.Arg15=) n.415G= | |
17 | g.63486613G>T | CA400555885 | ACE | c.2115G>T (p.Arg705Ser) c.393G>T (p.Arg131Ser) c.*185G>T (n.*185G>T) c.296G>T (n.296G>T) c.677G>T c.*35G>T (n.*35G>T) c.1566G>T (p.Arg522Ser) c.453G>T (p.Arg151Ser) c.1548G>T (p.Arg516Ser) c.1263G>T (p.Arg421Ser) c.45G>T (p.Arg15Ser) n.415G>T | |
17 | g.63486614A= | CA2269944850 | ACE | c.2116A= (p.Lys706=) c.394A= (p.Lys132=) c.*186A= (n.*186A=) c.297A= (n.297A=) c.678A= c.*36A= (n.*36A=) c.1567A= (p.Lys523=) c.454A= (p.Lys152=) c.1549A= (p.Lys517=) c.1264A= (p.Lys422=) c.46A= (p.Lys16=) n.416A= | |
17 | g.63486614A>C | CA400555887 | ACE | c.2116A>C (p.Lys706Gln) c.394A>C (p.Lys132Gln) c.*186A>C (n.*186A>C) c.297A>C (n.297A>C) c.678A>C c.*36A>C (n.*36A>C) c.1567A>C (p.Lys523Gln) c.454A>C (p.Lys152Gln) c.1549A>C (p.Lys517Gln) c.1264A>C (p.Lys422Gln) c.46A>C (p.Lys16Gln) n.416A>C | |
17 | g.63486614A>G | CA400555889 | ACE | c.2116A>G (p.Lys706Glu) c.394A>G (p.Lys132Glu) c.*186A>G (n.*186A>G) c.297A>G (n.297A>G) c.678A>G c.*36A>G (n.*36A>G) c.1567A>G (p.Lys523Glu) c.454A>G (p.Lys152Glu) c.1549A>G (p.Lys517Glu) c.1264A>G (p.Lys422Glu) c.46A>G (p.Lys16Glu) n.416A>G | |
17 | g.63486614A>T | CA400555891 | ACE | c.2116A>T (p.Lys706Ter) c.394A>T (p.Lys132Ter) c.*186A>T (n.*186A>T) c.297A>T (n.297A>T) c.678A>T c.*36A>T (n.*36A>T) c.1567A>T (p.Lys523Ter) c.454A>T (p.Lys152Ter) c.1549A>T (p.Lys517Ter) c.1264A>T (p.Lys422Ter) c.46A>T (p.Lys16Ter) n.416A>T | dbSNP |
17 | g.63486615A= | CA2269944851 | ACE | c.2117A= (p.Lys706=) c.395A= (p.Lys132=) c.*187A= (n.*187A=) c.298A= (n.298A=) c.679A= c.*37A= (n.*37A=) c.1568A= (p.Lys523=) c.455A= (p.Lys152=) c.1550A= (p.Lys517=) c.1265A= (p.Lys422=) c.47A= (p.Lys16=) n.417A= | |
17 | g.63486615A>C | CA400555893 | ACE | c.2117A>C (p.Lys706Thr) c.395A>C (p.Lys132Thr) c.*187A>C (n.*187A>C) c.298A>C (n.298A>C) c.679A>C c.*37A>C (n.*37A>C) c.1568A>C (p.Lys523Thr) c.455A>C (p.Lys152Thr) c.1550A>C (p.Lys517Thr) c.1265A>C (p.Lys422Thr) c.47A>C (p.Lys16Thr) n.417A>C | |
17 | g.63486615A>G | CA8699942 | ACE | c.2117A>G (p.Lys706Arg) c.395A>G (p.Lys132Arg) c.*187A>G (n.*187A>G) c.298A>G (n.298A>G) c.679A>G c.*37A>G (n.*37A>G) c.1568A>G (p.Lys523Arg) c.455A>G (p.Lys152Arg) c.1550A>G (p.Lys517Arg) c.1265A>G (p.Lys422Arg) c.47A>G (p.Lys16Arg) n.417A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63486615A>T | CA400555896 | ACE | c.2117A>T (p.Lys706Met) c.395A>T (p.Lys132Met) c.*187A>T (n.*187A>T) c.298A>T (n.298A>T) c.679A>T c.*37A>T (n.*37A>T) c.1568A>T (p.Lys523Met) c.455A>T (p.Lys152Met) c.1550A>T (p.Lys517Met) c.1265A>T (p.Lys422Met) c.47A>T (p.Lys16Met) n.417A>T | |
17 | g.63486616G>A | CA501184179 | ACE | c.2118G>A (p.Lys706=) c.396G>A (p.Lys132=) c.*188G>A (n.*188G>A) c.299G>A (n.299G>A) c.680G>A c.*38G>A (n.*38G>A) c.1569G>A (p.Lys523=) c.456G>A (p.Lys152=) c.1551G>A (p.Lys517=) c.1266G>A (p.Lys422=) c.48G>A (p.Lys16=) n.418G>A | gnomAD v4 |
17 | g.63486616G>C | CA400555899 | ACE | c.2118G>C (p.Lys706Asn) c.396G>C (p.Lys132Asn) c.*188G>C (n.*188G>C) c.299G>C (n.299G>C) c.680G>C c.*38G>C (n.*38G>C) c.1569G>C (p.Lys523Asn) c.456G>C (p.Lys152Asn) c.1551G>C (p.Lys517Asn) c.1266G>C (p.Lys422Asn) c.48G>C (p.Lys16Asn) n.418G>C | |
17 | g.63486616G>T | CA400555901 | ACE | c.2118G>T (p.Lys706Asn) c.396G>T (p.Lys132Asn) c.*188G>T (n.*188G>T) c.299G>T (n.299G>T) c.680G>T c.*38G>T (n.*38G>T) c.1569G>T (p.Lys523Asn) c.456G>T (p.Lys152Asn) c.1551G>T (p.Lys517Asn) c.1266G>T (p.Lys422Asn) c.48G>T (p.Lys16Asn) n.418G>T | |
17 | g.63486617T>A | CA400555904 | ACE | c.2119T>A (p.Phe707Ile) c.397T>A (p.Phe133Ile) c.*189T>A (n.*189T>A) c.300T>A (n.300T>A) c.681T>A c.*39T>A (n.*39T>A) c.1570T>A (p.Phe524Ile) c.457T>A (p.Phe153Ile) c.1552T>A (p.Phe518Ile) c.1267T>A (p.Phe423Ile) c.49T>A (p.Phe17Ile) n.419T>A | |
17 | g.63486617T>C | CA400555906 | ACE | c.2119T>C (p.Phe707Leu) c.397T>C (p.Phe133Leu) c.*189T>C (n.*189T>C) c.300T>C (n.300T>C) c.681T>C c.*39T>C (n.*39T>C) c.1570T>C (p.Phe524Leu) c.457T>C (p.Phe153Leu) c.1552T>C (p.Phe518Leu) c.1267T>C (p.Phe423Leu) c.49T>C (p.Phe17Leu) n.419T>C | |
17 | g.63486617T>G | CA400555908 | ACE | c.2119T>G (p.Phe707Val) c.397T>G (p.Phe133Val) c.*189T>G (n.*189T>G) c.300T>G (n.300T>G) c.681T>G c.*39T>G (n.*39T>G) c.1570T>G (p.Phe524Val) c.457T>G (p.Phe153Val) c.1552T>G (p.Phe518Val) c.1267T>G (p.Phe423Val) c.49T>G (p.Phe17Val) n.419T>G | |
17 | g.63486618T>A | CA400555915 | ACE | c.2120T>A (p.Phe707Tyr) c.398T>A (p.Phe133Tyr) c.*190T>A (n.*190T>A) c.301T>A (n.301T>A) c.682T>A c.*40T>A (n.*40T>A) c.1571T>A (p.Phe524Tyr) c.458T>A (p.Phe153Tyr) c.1553T>A (p.Phe518Tyr) c.1268T>A (p.Phe423Tyr) c.50T>A (p.Phe17Tyr) n.420T>A | |
17 | g.63486618T>C | CA400555917 | ACE | c.2120T>C (p.Phe707Ser) c.398T>C (p.Phe133Ser) c.*190T>C (n.*190T>C) c.301T>C (n.301T>C) c.682T>C c.*40T>C (n.*40T>C) c.1571T>C (p.Phe524Ser) c.458T>C (p.Phe153Ser) c.1553T>C (p.Phe518Ser) c.1268T>C (p.Phe423Ser) c.50T>C (p.Phe17Ser) n.420T>C | |
17 | g.63486618T>G | CA400555913 | ACE | c.2120T>G (p.Phe707Cys) c.398T>G (p.Phe133Cys) c.*190T>G (n.*190T>G) c.301T>G (n.301T>G) c.682T>G c.*40T>G (n.*40T>G) c.1571T>G (p.Phe524Cys) c.458T>G (p.Phe153Cys) c.1553T>G (p.Phe518Cys) c.1268T>G (p.Phe423Cys) c.50T>G (p.Phe17Cys) n.420T>G | |
17 | g.63486619T>A | CA400555919 | ACE | c.2121T>A (p.Phe707Leu) c.399T>A (p.Phe133Leu) c.*191T>A (n.*191T>A) c.302T>A (n.302T>A) c.683T>A c.*41T>A (n.*41T>A) c.1572T>A (p.Phe524Leu) c.459T>A (p.Phe153Leu) c.1554T>A (p.Phe518Leu) c.1269T>A (p.Phe423Leu) c.51T>A (p.Phe17Leu) n.421T>A | |
17 | g.63486619T>C | CA501184194 | ACE | c.2121T>C (p.Phe707=) c.399T>C (p.Phe133=) c.*191T>C (n.*191T>C) c.302T>C (n.302T>C) c.683T>C c.*41T>C (n.*41T>C) c.1572T>C (p.Phe524=) c.459T>C (p.Phe153=) c.1554T>C (p.Phe518=) c.1269T>C (p.Phe423=) c.51T>C (p.Phe17=) n.421T>C | |
17 | g.63486619T>G | CA400555921 | ACE | c.2121T>G (p.Phe707Leu) c.399T>G (p.Phe133Leu) c.*191T>G (n.*191T>G) c.302T>G (n.302T>G) c.683T>G c.*41T>G (n.*41T>G) c.1572T>G (p.Phe524Leu) c.459T>G (p.Phe153Leu) c.1554T>G (p.Phe518Leu) c.1269T>G (p.Phe423Leu) c.51T>G (p.Phe17Leu) n.421T>G | |
17 | g.63486620G>A | CA400555924 | ACE | c.2122G>A (p.Asp708Asn) c.400G>A (p.Asp134Asn) c.*192G>A (n.*192G>A) c.303G>A (n.303G>A) c.684G>A c.*42G>A (n.*42G>A) c.1573G>A (p.Asp525Asn) c.460G>A (p.Asp154Asn) c.1555G>A (p.Asp519Asn) c.1270G>A (p.Asp424Asn) c.52G>A (p.Asp18Asn) n.422G>A | dbSNP gnomAD v2 |
17 | g.63486620G>C | CA400555926 | ACE | c.2122G>C (p.Asp708His) c.400G>C (p.Asp134His) c.*192G>C (n.*192G>C) c.303G>C (n.303G>C) c.684G>C c.*42G>C (n.*42G>C) c.1573G>C (p.Asp525His) c.460G>C (p.Asp154His) c.1555G>C (p.Asp519His) c.1270G>C (p.Asp424His) c.52G>C (p.Asp18His) n.422G>C | |
17 | g.63486620G= | CA2269944852 | ACE | c.2122G= (p.Asp708=) c.400G= (p.Asp134=) c.*192G= (n.*192G=) c.303G= (n.303G=) c.684G= c.*42G= (n.*42G=) c.1573G= (p.Asp525=) c.460G= (p.Asp154=) c.1555G= (p.Asp519=) c.1270G= (p.Asp424=) c.52G= (p.Asp18=) n.422G= | |
17 | g.63486620G>T | CA400555929 | ACE | c.2122G>T (p.Asp708Tyr) c.400G>T (p.Asp134Tyr) c.*192G>T (n.*192G>T) c.303G>T (n.303G>T) c.684G>T c.*42G>T (n.*42G>T) c.1573G>T (p.Asp525Tyr) c.460G>T (p.Asp154Tyr) c.1555G>T (p.Asp519Tyr) c.1270G>T (p.Asp424Tyr) c.52G>T (p.Asp18Tyr) n.422G>T | |
17 | g.63486621A>C | CA400555932 | ACE | c.2123A>C (p.Asp708Ala) c.401A>C (p.Asp134Ala) c.*193A>C (n.*193A>C) c.304A>C (n.304A>C) c.685A>C c.*43A>C (n.*43A>C) c.1574A>C (p.Asp525Ala) c.461A>C (p.Asp154Ala) c.1556A>C (p.Asp519Ala) c.1271A>C (p.Asp424Ala) c.53A>C (p.Asp18Ala) n.423A>C | |
17 | g.63486621A>G | CA400555934 | ACE | c.2123A>G (p.Asp708Gly) c.401A>G (p.Asp134Gly) c.*193A>G (n.*193A>G) c.304A>G (n.304A>G) c.685A>G c.*43A>G (n.*43A>G) c.1574A>G (p.Asp525Gly) c.461A>G (p.Asp154Gly) c.1556A>G (p.Asp519Gly) c.1271A>G (p.Asp424Gly) c.53A>G (p.Asp18Gly) n.423A>G | |
17 | g.63486621A>T | CA400555936 | ACE | c.2123A>T (p.Asp708Val) c.401A>T (p.Asp134Val) c.*193A>T (n.*193A>T) c.304A>T (n.304A>T) c.685A>T c.*43A>T (n.*43A>T) c.1574A>T (p.Asp525Val) c.461A>T (p.Asp154Val) c.1556A>T (p.Asp519Val) c.1271A>T (p.Asp424Val) c.53A>T (p.Asp18Val) n.423A>T | |
17 | g.63486622T>A | CA400555938 | ACE | c.2124T>A (p.Asp708Glu) c.402T>A (p.Asp134Glu) c.*194T>A (n.*194T>A) c.305T>A (n.305T>A) c.686T>A c.*44T>A (n.*44T>A) c.1575T>A (p.Asp525Glu) c.462T>A (p.Asp154Glu) c.1557T>A (p.Asp519Glu) c.1272T>A (p.Asp424Glu) c.54T>A (p.Asp18Glu) n.424T>A | |
17 | g.63486622T>C | CA501184211 | ACE | c.2124T>C (p.Asp708=) c.402T>C (p.Asp134=) c.*194T>C (n.*194T>C) c.305T>C (n.305T>C) c.686T>C c.*44T>C (n.*44T>C) c.1575T>C (p.Asp525=) c.462T>C (p.Asp154=) c.1557T>C (p.Asp519=) c.1272T>C (p.Asp424=) c.54T>C (p.Asp18=) n.424T>C | |
17 | g.63486622T>G | CA400555941 | ACE | c.2124T>G (p.Asp708Glu) c.402T>G (p.Asp134Glu) c.*194T>G (n.*194T>G) c.305T>G (n.305T>G) c.686T>G c.*44T>G (n.*44T>G) c.1575T>G (p.Asp525Glu) c.462T>G (p.Asp154Glu) c.1557T>G (p.Asp519Glu) c.1272T>G (p.Asp424Glu) c.54T>G (p.Asp18Glu) n.424T>G | |
17 | g.63486623G>A | CA400555943 | ACE | c.2125G>A (p.Val709Met) c.403G>A (p.Val135Met) c.*195G>A (n.*195G>A) c.306G>A (n.306G>A) c.687G>A c.*45G>A (n.*45G>A) c.1576G>A (p.Val526Met) c.463G>A (p.Val155Met) c.1558G>A (p.Val520Met) c.1273G>A (p.Val425Met) c.55G>A (p.Val19Met) n.425G>A | |
17 | g.63486623G>C | CA400555946 | ACE | c.2125G>C (p.Val709Leu) c.403G>C (p.Val135Leu) c.*195G>C (n.*195G>C) c.306G>C (n.306G>C) c.687G>C c.*45G>C (n.*45G>C) c.1576G>C (p.Val526Leu) c.463G>C (p.Val155Leu) c.1558G>C (p.Val520Leu) c.1273G>C (p.Val425Leu) c.55G>C (p.Val19Leu) n.425G>C | |
17 | g.63486623G>T | CA400555948 | ACE | c.2125G>T (p.Val709Leu) c.403G>T (p.Val135Leu) c.*195G>T (n.*195G>T) c.306G>T (n.306G>T) c.687G>T c.*45G>T (n.*45G>T) c.1576G>T (p.Val526Leu) c.463G>T (p.Val155Leu) c.1558G>T (p.Val520Leu) c.1273G>T (p.Val425Leu) c.55G>T (p.Val19Leu) n.425G>T | |
17 | g.63486624T>A | CA400555957 | ACE | c.2126T>A (p.Val709Glu) c.404T>A (p.Val135Glu) c.*196T>A (n.*196T>A) c.307T>A (n.307T>A) c.688T>A c.*46T>A (n.*46T>A) c.1577T>A (p.Val526Glu) c.464T>A (p.Val155Glu) c.1559T>A (p.Val520Glu) c.1274T>A (p.Val425Glu) c.56T>A (p.Val19Glu) n.426T>A | |
17 | g.63486624T>C | CA400555955 | ACE | c.2126T>C (p.Val709Ala) c.404T>C (p.Val135Ala) c.*196T>C (n.*196T>C) c.307T>C (n.307T>C) c.688T>C c.*46T>C (n.*46T>C) c.1577T>C (p.Val526Ala) c.464T>C (p.Val155Ala) c.1559T>C (p.Val520Ala) c.1274T>C (p.Val425Ala) c.56T>C (p.Val19Ala) n.426T>C | gnomAD v4 |
17 | g.63486624T>G | CA400555952 | ACE | c.2126T>G (p.Val709Gly) c.404T>G (p.Val135Gly) c.*196T>G (n.*196T>G) c.307T>G (n.307T>G) c.688T>G c.*46T>G (n.*46T>G) c.1577T>G (p.Val526Gly) c.464T>G (p.Val155Gly) c.1559T>G (p.Val520Gly) c.1274T>G (p.Val425Gly) c.56T>G (p.Val19Gly) n.426T>G | |
17 | g.63486625G>A | CA8699943 | ACE | c.2127G>A (p.Val709=) c.405G>A (p.Val135=) c.*197G>A (n.*197G>A) c.308G>A (n.308G>A) c.689G>A c.*47G>A (n.*47G>A) c.1578G>A (p.Val526=) c.465G>A (p.Val155=) c.1560G>A (p.Val520=) c.1275G>A (p.Val425=) c.57G>A (p.Val19=) n.427G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486625G>C | CA501184224 | ACE | c.2127G>C (p.Val709=) c.405G>C (p.Val135=) c.*197G>C (n.*197G>C) c.308G>C (n.308G>C) c.689G>C c.*47G>C (n.*47G>C) c.1578G>C (p.Val526=) c.465G>C (p.Val155=) c.1560G>C (p.Val520=) c.1275G>C (p.Val425=) c.57G>C (p.Val19=) n.427G>C | |
17 | g.63486625G= | CA2269944853 | ACE | c.2127G= (p.Val709=) c.405G= (p.Val135=) c.*197G= (n.*197G=) c.308G= (n.308G=) c.689G= c.*47G= (n.*47G=) c.1578G= (p.Val526=) c.465G= (p.Val155=) c.1560G= (p.Val520=) c.1275G= (p.Val425=) c.57G= (p.Val19=) n.427G= | |
17 | g.63486625G>T | CA501184226 | ACE | c.2127G>T (p.Val709=) c.405G>T (p.Val135=) c.*197G>T (n.*197G>T) c.308G>T (n.308G>T) c.689G>T c.*47G>T (n.*47G>T) c.1578G>T (p.Val526=) c.465G>T (p.Val155=) c.1560G>T (p.Val520=) c.1275G>T (p.Val425=) c.57G>T (p.Val19=) n.427G>T | |
17 | g.63486626A>C | CA400555961 | ACE | c.2128A>C (p.Asn710His) c.406A>C (p.Asn136His) c.*198A>C (n.*198A>C) c.309A>C (n.309A>C) c.690A>C c.*48A>C (n.*48A>C) c.1579A>C (p.Asn527His) c.466A>C (p.Asn156His) c.1561A>C (p.Asn521His) c.1276A>C (p.Asn426His) c.58A>C (p.Asn20His) n.428A>C | |
17 | g.63486626A>G | CA400555963 | ACE | c.2128A>G (p.Asn710Asp) c.406A>G (p.Asn136Asp) c.*198A>G (n.*198A>G) c.309A>G (n.309A>G) c.690A>G c.*48A>G (n.*48A>G) c.1579A>G (p.Asn527Asp) c.466A>G (p.Asn156Asp) c.1561A>G (p.Asn521Asp) c.1276A>G (p.Asn426Asp) c.58A>G (p.Asn20Asp) n.428A>G | COSMIC COSMIC |
17 | g.63486626A>T | CA400555965 | ACE | c.2128A>T (p.Asn710Tyr) c.406A>T (p.Asn136Tyr) c.*198A>T (n.*198A>T) c.309A>T (n.309A>T) c.690A>T c.*48A>T (n.*48A>T) c.1579A>T (p.Asn527Tyr) c.466A>T (p.Asn156Tyr) c.1561A>T (p.Asn521Tyr) c.1276A>T (p.Asn426Tyr) c.58A>T (p.Asn20Tyr) n.428A>T | |
17 | g.63486627A= | CA2269944854 | ACE | c.2129A= (p.Asn710=) c.407A= (p.Asn136=) c.*199A= (n.*199A=) c.310A= (n.310A=) c.691A= c.*49A= (n.*49A=) c.1580A= (p.Asn527=) c.467A= (p.Asn156=) c.1562A= (p.Asn521=) c.1277A= (p.Asn426=) c.59A= (p.Asn20=) n.429A= | |
17 | g.63486627A>C | CA400555968 | ACE | c.2129A>C (p.Asn710Thr) c.407A>C (p.Asn136Thr) c.*199A>C (n.*199A>C) c.310A>C (n.310A>C) c.691A>C c.*49A>C (n.*49A>C) c.1580A>C (p.Asn527Thr) c.467A>C (p.Asn156Thr) c.1562A>C (p.Asn521Thr) c.1277A>C (p.Asn426Thr) c.59A>C (p.Asn20Thr) n.429A>C | |
17 | g.63486627A>G | CA8699944 | ACE | c.2129A>G (p.Asn710Ser) c.407A>G (p.Asn136Ser) c.*199A>G (n.*199A>G) c.310A>G (n.310A>G) c.691A>G c.*49A>G (n.*49A>G) c.1580A>G (p.Asn527Ser) c.467A>G (p.Asn156Ser) c.1562A>G (p.Asn521Ser) c.1277A>G (p.Asn426Ser) c.59A>G (p.Asn20Ser) n.429A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63486627A>T | CA400555971 | ACE | c.2129A>T (p.Asn710Ile) c.407A>T (p.Asn136Ile) c.*199A>T (n.*199A>T) c.310A>T (n.310A>T) c.691A>T c.*49A>T (n.*49A>T) c.1580A>T (p.Asn527Ile) c.467A>T (p.Asn156Ile) c.1562A>T (p.Asn521Ile) c.1277A>T (p.Asn426Ile) c.59A>T (p.Asn20Ile) n.429A>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63486628C>A | CA400555974 | ACE | c.2130C>A (p.Asn710Lys) c.408C>A (p.Asn136Lys) c.*200C>A (n.*200C>A) c.311C>A (n.311C>A) c.692C>A c.*50C>A (n.*50C>A) c.1581C>A (p.Asn527Lys) c.468C>A (p.Asn156Lys) c.1563C>A (p.Asn521Lys) c.1278C>A (p.Asn426Lys) c.60C>A (p.Asn20Lys) n.430C>A | |
17 | g.63486628C>G | CA400555976 | ACE | c.2130C>G (p.Asn710Lys) c.408C>G (p.Asn136Lys) c.*200C>G (n.*200C>G) c.311C>G (n.311C>G) c.692C>G c.*50C>G (n.*50C>G) c.1581C>G (p.Asn527Lys) c.468C>G (p.Asn156Lys) c.1563C>G (p.Asn521Lys) c.1278C>G (p.Asn426Lys) c.60C>G (p.Asn20Lys) n.430C>G | |
17 | g.63486628C>T | CA501184242 | ACE | c.2130C>T (p.Asn710=) c.408C>T (p.Asn136=) c.*200C>T (n.*200C>T) c.311C>T (n.311C>T) c.692C>T c.*50C>T (n.*50C>T) c.1581C>T (p.Asn527=) c.468C>T (p.Asn156=) c.1563C>T (p.Asn521=) c.1278C>T (p.Asn426=) c.60C>T (p.Asn20=) n.430C>T | |
17 | g.63486629C>A | CA400555979 | ACE | c.2131C>A (p.Gln711Lys) c.409C>A (p.Gln137Lys) c.*201C>A (n.*201C>A) c.312C>A (n.312C>A) c.693C>A c.*51C>A (n.*51C>A) c.1582C>A (p.Gln528Lys) c.469C>A (p.Gln157Lys) c.1564C>A (p.Gln522Lys) c.1279C>A (p.Gln427Lys) c.61C>A (p.Gln21Lys) n.431C>A | COSMIC COSMIC |
17 | g.63486629C>G | CA400555982 | ACE | c.2131C>G (p.Gln711Glu) c.409C>G (p.Gln137Glu) c.*201C>G (n.*201C>G) c.312C>G (n.312C>G) c.693C>G c.*51C>G (n.*51C>G) c.1582C>G (p.Gln528Glu) c.469C>G (p.Gln157Glu) c.1564C>G (p.Gln522Glu) c.1279C>G (p.Gln427Glu) c.61C>G (p.Gln21Glu) n.431C>G | |
17 | g.63486629C>T | CA400555984 | ACE | c.2131C>T (p.Gln711Ter) c.409C>T (p.Gln137Ter) c.*201C>T (n.*201C>T) c.312C>T (n.312C>T) c.693C>T c.*51C>T (n.*51C>T) c.1582C>T (p.Gln528Ter) c.469C>T (p.Gln157Ter) c.1564C>T (p.Gln522Ter) c.1279C>T (p.Gln427Ter) c.61C>T (p.Gln21Ter) n.431C>T | |
17 | g.63486630A>C | CA400555993 | ACE | c.2132A>C (p.Gln711Pro) c.410A>C (p.Gln137Pro) c.*202A>C (n.*202A>C) c.313A>C (n.313A>C) c.694A>C c.*52A>C (n.*52A>C) c.1583A>C (p.Gln528Pro) c.470A>C (p.Gln157Pro) c.1565A>C (p.Gln522Pro) c.1280A>C (p.Gln427Pro) c.62A>C (p.Gln21Pro) n.432A>C | |
17 | g.63486630A>G | CA400555990 | ACE | c.2132A>G (p.Gln711Arg) c.410A>G (p.Gln137Arg) c.*202A>G (n.*202A>G) c.313A>G (n.313A>G) c.694A>G c.*52A>G (n.*52A>G) c.1583A>G (p.Gln528Arg) c.470A>G (p.Gln157Arg) c.1565A>G (p.Gln522Arg) c.1280A>G (p.Gln427Arg) c.62A>G (p.Gln21Arg) n.432A>G | COSMIC COSMIC COSMIC |
17 | g.63486630A>T | CA400555987 | ACE | c.2132A>T (p.Gln711Leu) c.410A>T (p.Gln137Leu) c.*202A>T (n.*202A>T) c.313A>T (n.313A>T) c.694A>T c.*52A>T (n.*52A>T) c.1583A>T (p.Gln528Leu) c.470A>T (p.Gln157Leu) c.1565A>T (p.Gln522Leu) c.1280A>T (p.Gln427Leu) c.62A>T (p.Gln21Leu) n.432A>T | |
17 | g.63486631G>A | CA501184249 | ACE | c.2133G>A (p.Gln711=) c.411G>A (p.Gln137=) c.*203G>A (n.*203G>A) c.314G>A (n.314G>A) c.695G>A c.*53G>A (n.*53G>A) c.1584G>A (p.Gln528=) c.471G>A (p.Gln157=) c.1566G>A (p.Gln522=) c.1281G>A (p.Gln427=) c.63G>A (p.Gln21=) n.433G>A | |
17 | g.63486631G>C | CA400555997 | ACE | c.2133G>C (p.Gln711His) c.411G>C (p.Gln137His) c.*203G>C (n.*203G>C) c.314G>C (n.314G>C) c.695G>C c.*53G>C (n.*53G>C) c.1584G>C (p.Gln528His) c.471G>C (p.Gln157His) c.1566G>C (p.Gln522His) c.1281G>C (p.Gln427His) c.63G>C (p.Gln21His) n.433G>C | gnomAD v4 |
17 | g.63486631G= | CA2269944855 | ACE | c.2133G= (p.Gln711=) c.411G= (p.Gln137=) c.*203G= (n.*203G=) c.314G= (n.314G=) c.695G= c.*53G= (n.*53G=) c.1584G= (p.Gln528=) c.471G= (p.Gln157=) c.1566G= (p.Gln522=) c.1281G= (p.Gln427=) c.63G= (p.Gln21=) n.433G= | |
17 | g.63486631G>T | CA400555999 | ACE | c.2133G>T (p.Gln711His) c.411G>T (p.Gln137His) c.*203G>T (n.*203G>T) c.314G>T (n.314G>T) c.695G>T c.*53G>T (n.*53G>T) c.1584G>T (p.Gln528His) c.471G>T (p.Gln157His) c.1566G>T (p.Gln522His) c.1281G>T (p.Gln427His) c.63G>T (p.Gln21His) n.433G>T | dbSNP |
17 | g.63486632T>A | CA400556003 | ACE | c.2134T>A (p.Leu712Met) c.412T>A (p.Leu138Met) c.*204T>A (n.*204T>A) c.315T>A (n.315T>A) c.696T>A c.*54T>A (n.*54T>A) c.1585T>A (p.Leu529Met) c.472T>A (p.Leu158Met) c.1567T>A (p.Leu523Met) c.1282T>A (p.Leu428Met) c.64T>A (p.Leu22Met) n.434T>A | |
17 | g.63486632T>C | CA501184254 | ACE | c.2134T>C (p.Leu712=) c.412T>C (p.Leu138=) c.*204T>C (n.*204T>C) c.315T>C (n.315T>C) c.696T>C c.*54T>C (n.*54T>C) c.1585T>C (p.Leu529=) c.472T>C (p.Leu158=) c.1567T>C (p.Leu523=) c.1282T>C (p.Leu428=) c.64T>C (p.Leu22=) n.434T>C | |
17 | g.63486632T>G | CA400556005 | ACE | c.2134T>G (p.Leu712Val) c.412T>G (p.Leu138Val) c.*204T>G (n.*204T>G) c.315T>G (n.315T>G) c.696T>G c.*54T>G (n.*54T>G) c.1585T>G (p.Leu529Val) c.472T>G (p.Leu158Val) c.1567T>G (p.Leu523Val) c.1282T>G (p.Leu428Val) c.64T>G (p.Leu22Val) n.434T>G | |
17 | g.63486633T>A | CA400556008 | ACE | c.2135T>A (p.Leu712Ter) c.413T>A (p.Leu138Ter) c.*205T>A (n.*205T>A) c.316T>A (n.316T>A) c.697T>A c.*55T>A (n.*55T>A) c.1586T>A (p.Leu529Ter) c.473T>A (p.Leu158Ter) c.1568T>A (p.Leu523Ter) c.1283T>A (p.Leu428Ter) c.65T>A (p.Leu22Ter) n.435T>A | |
17 | g.63486633T>C | CA400556009 | ACE | c.2135T>C (p.Leu712Ser) c.413T>C (p.Leu138Ser) c.*205T>C (n.*205T>C) c.316T>C (n.316T>C) c.697T>C c.*55T>C (n.*55T>C) c.1586T>C (p.Leu529Ser) c.473T>C (p.Leu158Ser) c.1568T>C (p.Leu523Ser) c.1283T>C (p.Leu428Ser) c.65T>C (p.Leu22Ser) n.435T>C | dbSNP |
17 | g.63486633T>G | CA400556011 | ACE | c.2135T>G (p.Leu712Trp) c.413T>G (p.Leu138Trp) c.*205T>G (n.*205T>G) c.316T>G (n.316T>G) c.697T>G c.*55T>G (n.*55T>G) c.1586T>G (p.Leu529Trp) c.473T>G (p.Leu158Trp) c.1568T>G (p.Leu523Trp) c.1283T>G (p.Leu428Trp) c.65T>G (p.Leu22Trp) n.435T>G | |
17 | g.63486633T= | CA2269944856 | ACE | c.2135T= (p.Leu712=) c.413T= (p.Leu138=) c.*205T= (n.*205T=) c.316T= (n.316T=) c.697T= c.*55T= (n.*55T=) c.1586T= (p.Leu529=) c.473T= (p.Leu158=) c.1568T= (p.Leu523=) c.1283T= (p.Leu428=) c.65T= (p.Leu22=) n.435T= | |
17 | g.63486634G>A | CA501184255 | ACE | c.2136G>A (p.Leu712=) c.414G>A (p.Leu138=) c.*206G>A (n.*206G>A) c.317G>A (n.317G>A) c.698G>A c.*56G>A (n.*56G>A) c.1587G>A (p.Leu529=) c.474G>A (p.Leu158=) c.1569G>A (p.Leu523=) c.1284G>A (p.Leu428=) c.66G>A (p.Leu22=) n.436G>A | |
17 | g.63486634G>C | CA400556014 | ACE | c.2136G>C (p.Leu712Phe) c.414G>C (p.Leu138Phe) c.*206G>C (n.*206G>C) c.317G>C (n.317G>C) c.698G>C c.*56G>C (n.*56G>C) c.1587G>C (p.Leu529Phe) c.474G>C (p.Leu158Phe) c.1569G>C (p.Leu523Phe) c.1284G>C (p.Leu428Phe) c.66G>C (p.Leu22Phe) n.436G>C | |
17 | g.63486634G>T | CA400556015 | ACE | c.2136G>T (p.Leu712Phe) c.414G>T (p.Leu138Phe) c.*206G>T (n.*206G>T) c.317G>T (n.317G>T) c.698G>T c.*56G>T (n.*56G>T) c.1587G>T (p.Leu529Phe) c.474G>T (p.Leu158Phe) c.1569G>T (p.Leu523Phe) c.1284G>T (p.Leu428Phe) c.66G>T (p.Leu22Phe) n.436G>T | |
17 | g.63486635C>A | CA400556019 | ACE | c.2137C>A (p.Gln713Lys) c.415C>A (p.Gln139Lys) c.*207C>A (n.*207C>A) c.318C>A (n.318C>A) c.699C>A c.*57C>A (n.*57C>A) c.1588C>A (p.Gln530Lys) c.475C>A (p.Gln159Lys) c.1570C>A (p.Gln524Lys) c.1285C>A (p.Gln429Lys) c.67C>A (p.Gln23Lys) n.437C>A | |
17 | g.63486635C>G | CA400556020 | ACE | c.2137C>G (p.Gln713Glu) c.415C>G (p.Gln139Glu) c.*207C>G (n.*207C>G) c.318C>G (n.318C>G) c.699C>G c.*57C>G (n.*57C>G) c.1588C>G (p.Gln530Glu) c.475C>G (p.Gln159Glu) c.1570C>G (p.Gln524Glu) c.1285C>G (p.Gln429Glu) c.67C>G (p.Gln23Glu) n.437C>G | |
17 | g.63486635C>T | CA400556022 | ACE | c.2137C>T (p.Gln713Ter) c.415C>T (p.Gln139Ter) c.*207C>T (n.*207C>T) c.318C>T (n.318C>T) c.699C>T c.*57C>T (n.*57C>T) c.1588C>T (p.Gln530Ter) c.475C>T (p.Gln159Ter) c.1570C>T (p.Gln524Ter) c.1285C>T (p.Gln429Ter) c.67C>T (p.Gln23Ter) n.437C>T | |
17 | g.63486636A>C | CA400556031 | ACE | c.2138A>C (p.Gln713Pro) c.416A>C (p.Gln139Pro) c.*208A>C (n.*208A>C) c.319A>C (n.319A>C) c.700A>C c.*58A>C (n.*58A>C) c.1589A>C (p.Gln530Pro) c.476A>C (p.Gln159Pro) c.1571A>C (p.Gln524Pro) c.1286A>C (p.Gln429Pro) c.68A>C (p.Gln23Pro) n.438A>C | |
17 | g.63486636A>G | CA400556028 | ACE | c.2138A>G (p.Gln713Arg) c.416A>G (p.Gln139Arg) c.*208A>G (n.*208A>G) c.319A>G (n.319A>G) c.700A>G c.*58A>G (n.*58A>G) c.1589A>G (p.Gln530Arg) c.476A>G (p.Gln159Arg) c.1571A>G (p.Gln524Arg) c.1286A>G (p.Gln429Arg) c.68A>G (p.Gln23Arg) n.438A>G | |
17 | g.63486636A>T | CA400556025 | ACE | c.2138A>T (p.Gln713Leu) c.416A>T (p.Gln139Leu) c.*208A>T (n.*208A>T) c.319A>T (n.319A>T) c.700A>T c.*58A>T (n.*58A>T) c.1589A>T (p.Gln530Leu) c.476A>T (p.Gln159Leu) c.1571A>T (p.Gln524Leu) c.1286A>T (p.Gln429Leu) c.68A>T (p.Gln23Leu) n.438A>T | |
17 | g.63486637G>A | CA292881492 | ACE | c.2139G>A (p.Gln713=) c.417G>A (p.Gln139=) c.*209G>A (n.*209G>A) c.320G>A (n.320G>A) c.701G>A c.*59G>A (n.*59G>A) c.1590G>A (p.Gln530=) c.477G>A (p.Gln159=) c.1572G>A (p.Gln524=) c.1287G>A (p.Gln429=) c.69G>A (p.Gln23=) n.439G>A | dbSNP gnomAD v4 |
17 | g.63486637G>C | CA400556034 | ACE | c.2139G>C (p.Gln713His) c.417G>C (p.Gln139His) c.*209G>C (n.*209G>C) c.320G>C (n.320G>C) c.701G>C c.*59G>C (n.*59G>C) c.1590G>C (p.Gln530His) c.477G>C (p.Gln159His) c.1572G>C (p.Gln524His) c.1287G>C (p.Gln429His) c.69G>C (p.Gln23His) n.439G>C | |
17 | g.63486637G= | CA2269944858 | ACE | c.2139G= (p.Gln713=) c.417G= (p.Gln139=) c.*209G= (n.*209G=) c.320G= (n.320G=) c.701G= c.*59G= (n.*59G=) c.1590G= (p.Gln530=) c.477G= (p.Gln159=) c.1572G= (p.Gln524=) c.1287G= (p.Gln429=) c.69G= (p.Gln23=) n.439G= | |
17 | g.63486637G>T | CA400556036 | ACE | c.2139G>T (p.Gln713His) c.417G>T (p.Gln139His) c.*209G>T (n.*209G>T) c.320G>T (n.320G>T) c.701G>T c.*59G>T (n.*59G>T) c.1590G>T (p.Gln530His) c.477G>T (p.Gln159His) c.1572G>T (p.Gln524His) c.1287G>T (p.Gln429His) c.69G>T (p.Gln23His) n.439G>T | |
17 | g.63486637_63486638delinsGA | CA2269944857 | ACE | c.2139_2140delinsGA (p.Gln713=) c.417_418delinsGA (p.Gln139=) c.*209_*210delinsGA (n.*209_*210delinsGA) c.320_321delinsGA (n.320_321delinsGA) c.701_702delinsGA c.*59_*60delinsGA (n.*59_*60delinsGA) c.1590_1591delinsGA (p.Gln530=) c.477_478delinsGA (p.Gln159=) c.1572_1573delinsGA (p.Gln524=) c.1287_1288delinsGA (p.Gln429=) c.69_70delinsGA (p.Gln23=) n.439_440delinsGA | |
17 | g.63486638A>C | CA400556039 | ACE | c.2140A>C (p.Asn714His) c.418A>C (p.Asn140His) c.*210A>C (n.*210A>C) c.321A>C (n.321A>C) c.702A>C c.*60A>C (n.*60A>C) c.1591A>C (p.Asn531His) c.478A>C (p.Asn160His) c.1573A>C (p.Asn525His) c.1288A>C (p.Asn430His) c.70A>C (p.Asn24His) n.440A>C | |
17 | g.63486638A>G | CA400556041 | ACE | c.2140A>G (p.Asn714Asp) c.418A>G (p.Asn140Asp) c.*210A>G (n.*210A>G) c.321A>G (n.321A>G) c.702A>G c.*60A>G (n.*60A>G) c.1591A>G (p.Asn531Asp) c.478A>G (p.Asn160Asp) c.1573A>G (p.Asn525Asp) c.1288A>G (p.Asn430Asp) c.70A>G (p.Asn24Asp) n.440A>G | |
17 | g.63486638A>T | CA400556044 | ACE | c.2140A>T (p.Asn714Tyr) c.418A>T (p.Asn140Tyr) c.*210A>T (n.*210A>T) c.321A>T (n.321A>T) c.702A>T c.*60A>T (n.*60A>T) c.1591A>T (p.Asn531Tyr) c.478A>T (p.Asn160Tyr) c.1573A>T (p.Asn525Tyr) c.1288A>T (p.Asn430Tyr) c.70A>T (p.Asn24Tyr) n.440A>T | |
17 | g.63486639dup | CA919876028 | ACE | c.2141dup (p.Asn714LysfsTer?) c.419dup (p.Asn140LysfsTer?) c.*211dup (n.*211dup) c.322dup (n.322dup) c.703dup c.*61dup (n.*61dup) c.1592dup (p.Asn531LysfsTer?) c.479dup (p.Asn160LysfsTer?) c.1574dup (p.Asn525LysfsTer?) c.1289dup (p.Asn430LysfsTer?) c.71dup (p.Asn24LysfsTer?) n.441dup | dbSNP |
17 | g.63486639del | CA2269944859 | ACE | c.2141del (p.Asn714ThrfsTer8) c.419del (p.Asn140ThrfsTer8) c.*211del (n.*211del) c.322del (n.322del) c.703del c.*61del (n.*61del) c.1592del (p.Asn531ThrfsTer8) c.479del (p.Asn160ThrfsTer8) c.1574del (p.Asn525ThrfsTer8) c.1289del (p.Asn430ThrfsTer8) c.71del (p.Asn24ThrfsTer8) n.441del | dbSNP |
17 | g.63486639A>C | CA400556047 | ACE | c.2141A>C (p.Asn714Thr) c.419A>C (p.Asn140Thr) c.*211A>C (n.*211A>C) c.322A>C (n.322A>C) c.703A>C c.*61A>C (n.*61A>C) c.1592A>C (p.Asn531Thr) c.479A>C (p.Asn160Thr) c.1574A>C (p.Asn525Thr) c.1289A>C (p.Asn430Thr) c.71A>C (p.Asn24Thr) n.441A>C | |
17 | g.63486639A>G | CA400556049 | ACE | c.2141A>G (p.Asn714Ser) c.419A>G (p.Asn140Ser) c.*211A>G (n.*211A>G) c.322A>G (n.322A>G) c.703A>G c.*61A>G (n.*61A>G) c.1592A>G (p.Asn531Ser) c.479A>G (p.Asn160Ser) c.1574A>G (p.Asn525Ser) c.1289A>G (p.Asn430Ser) c.71A>G (p.Asn24Ser) n.441A>G | |
17 | g.63486639A>T | CA400556051 | ACE | c.2141A>T (p.Asn714Ile) c.419A>T (p.Asn140Ile) c.*211A>T (n.*211A>T) c.322A>T (n.322A>T) c.703A>T c.*61A>T (n.*61A>T) c.1592A>T (p.Asn531Ile) c.479A>T (p.Asn160Ile) c.1574A>T (p.Asn525Ile) c.1289A>T (p.Asn430Ile) c.71A>T (p.Asn24Ile) n.441A>T | gnomAD v4 |
17 | g.63486640C>A | CA8699945 | ACE | c.2142C>A (p.Asn714Lys) c.420C>A (p.Asn140Lys) c.*212C>A (n.*212C>A) c.323C>A (n.323C>A) c.704C>A c.*62C>A (n.*62C>A) c.1593C>A (p.Asn531Lys) c.480C>A (p.Asn160Lys) c.1575C>A (p.Asn525Lys) c.1290C>A (p.Asn430Lys) c.72C>A (p.Asn24Lys) n.442C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63486640C= | CA2269944860 | ACE | c.2142C= (p.Asn714=) c.420C= (p.Asn140=) c.*212C= (n.*212C=) c.323C= (n.323C=) c.704C= c.*62C= (n.*62C=) c.1593C= (p.Asn531=) c.480C= (p.Asn160=) c.1575C= (p.Asn525=) c.1290C= (p.Asn430=) c.72C= (p.Asn24=) n.442C= | |
17 | g.63486640C>G | CA400556056 | ACE | c.2142C>G (p.Asn714Lys) c.420C>G (p.Asn140Lys) c.*212C>G (n.*212C>G) c.323C>G (n.323C>G) c.704C>G c.*62C>G (n.*62C>G) c.1593C>G (p.Asn531Lys) c.480C>G (p.Asn160Lys) c.1575C>G (p.Asn525Lys) c.1290C>G (p.Asn430Lys) c.72C>G (p.Asn24Lys) n.442C>G | |
17 | g.63486640C>T | CA501184285 | ACE | c.2142C>T (p.Asn714=) c.420C>T (p.Asn140=) c.*212C>T (n.*212C>T) c.323C>T (n.323C>T) c.704C>T c.*62C>T (n.*62C>T) c.1593C>T (p.Asn531=) c.480C>T (p.Asn160=) c.1575C>T (p.Asn525=) c.1290C>T (p.Asn430=) c.72C>T (p.Asn24=) n.442C>T | gnomAD v4 |
17 | g.63486643_63486645del | CA2639263164 | ACE | c.2145_2147del (p.Thr716del) c.423_425del (p.Thr142del) c.*215_*217del (n.*215_*217del) c.326_328del (n.326_328del) c.707_709del c.*65_*67del (n.*65_*67del) c.1596_1598del (p.Thr533del) c.483_485del (p.Thr162del) c.1578_1580del (p.Thr527del) c.1293_1295del (p.Thr432del) c.75_77del (p.Thr26del) n.445_447del | gnomAD v4 |
17 | g.63486641A>C | CA400556059 | ACE | c.2143A>C (p.Thr715Pro) c.421A>C (p.Thr141Pro) c.*213A>C (n.*213A>C) c.324A>C (n.324A>C) c.705A>C c.*63A>C (n.*63A>C) c.1594A>C (p.Thr532Pro) c.481A>C (p.Thr161Pro) c.1576A>C (p.Thr526Pro) c.1291A>C (p.Thr431Pro) c.73A>C (p.Thr25Pro) n.443A>C | gnomAD v4 |
17 | g.63486641A>G | CA400556061 | ACE | c.2143A>G (p.Thr715Ala) c.421A>G (p.Thr141Ala) c.*213A>G (n.*213A>G) c.324A>G (n.324A>G) c.705A>G c.*63A>G (n.*63A>G) c.1594A>G (p.Thr532Ala) c.481A>G (p.Thr161Ala) c.1576A>G (p.Thr526Ala) c.1291A>G (p.Thr431Ala) c.73A>G (p.Thr25Ala) n.443A>G | |
17 | g.63486641A>T | CA400556064 | ACE | c.2143A>T (p.Thr715Ser) c.421A>T (p.Thr141Ser) c.*213A>T (n.*213A>T) c.324A>T (n.324A>T) c.705A>T c.*63A>T (n.*63A>T) c.1594A>T (p.Thr532Ser) c.481A>T (p.Thr161Ser) c.1576A>T (p.Thr526Ser) c.1291A>T (p.Thr431Ser) c.73A>T (p.Thr25Ser) n.443A>T | |
17 | g.63486642C>A | CA400556071 | ACE | c.2144C>A (p.Thr715Asn) c.422C>A (p.Thr141Asn) c.*214C>A (n.*214C>A) c.325C>A (n.325C>A) c.706C>A c.*64C>A (n.*64C>A) c.1595C>A (p.Thr532Asn) c.482C>A (p.Thr161Asn) c.1577C>A (p.Thr526Asn) c.1292C>A (p.Thr431Asn) c.74C>A (p.Thr25Asn) n.444C>A | |
17 | g.63486642C>G | CA400556068 | ACE | c.2144C>G (p.Thr715Ser) c.422C>G (p.Thr141Ser) c.*214C>G (n.*214C>G) c.325C>G (n.325C>G) c.706C>G c.*64C>G (n.*64C>G) c.1595C>G (p.Thr532Ser) c.482C>G (p.Thr161Ser) c.1577C>G (p.Thr526Ser) c.1292C>G (p.Thr431Ser) c.74C>G (p.Thr25Ser) n.444C>G | |
17 | g.63486642C>T | CA400556066 | ACE | c.2144C>T (p.Thr715Ile) c.422C>T (p.Thr141Ile) c.*214C>T (n.*214C>T) c.325C>T (n.325C>T) c.706C>T c.*64C>T (n.*64C>T) c.1595C>T (p.Thr532Ile) c.482C>T (p.Thr161Ile) c.1577C>T (p.Thr526Ile) c.1292C>T (p.Thr431Ile) c.74C>T (p.Thr25Ile) n.444C>T | |
17 | g.63486643C>A | CA501184301 | ACE | c.2145C>A (p.Thr715=) c.423C>A (p.Thr141=) c.*215C>A (n.*215C>A) c.326C>A (n.326C>A) c.707C>A c.*65C>A (n.*65C>A) c.1596C>A (p.Thr532=) c.483C>A (p.Thr161=) c.1578C>A (p.Thr526=) c.1293C>A (p.Thr431=) c.75C>A (p.Thr25=) n.445C>A | |
17 | g.63486643C>G | CA501184307 | ACE | c.2145C>G (p.Thr715=) c.423C>G (p.Thr141=) c.*215C>G (n.*215C>G) c.326C>G (n.326C>G) c.707C>G c.*65C>G (n.*65C>G) c.1596C>G (p.Thr532=) c.483C>G (p.Thr161=) c.1578C>G (p.Thr526=) c.1293C>G (p.Thr431=) c.75C>G (p.Thr25=) n.445C>G | |
17 | g.63486643C>T | CA501184308 | ACE | c.2145C>T (p.Thr715=) c.423C>T (p.Thr141=) c.*215C>T (n.*215C>T) c.326C>T (n.326C>T) c.707C>T c.*65C>T (n.*65C>T) c.1596C>T (p.Thr532=) c.483C>T (p.Thr161=) c.1578C>T (p.Thr526=) c.1293C>T (p.Thr431=) c.75C>T (p.Thr25=) n.445C>T | COSMIC COSMIC COSMIC |
17 | g.63486644A= | CA2269944861 | ACE | c.2146A= (p.Thr716=) c.424A= (p.Thr142=) c.*216A= (n.*216A=) c.327A= (n.327A=) c.708A= c.*66A= (n.*66A=) c.1597A= (p.Thr533=) c.484A= (p.Thr162=) c.1579A= (p.Thr527=) c.1294A= (p.Thr432=) c.76A= (p.Thr26=) n.446A= | |
17 | g.63486644A>C | CA400556076 | ACE | c.2146A>C (p.Thr716Pro) c.424A>C (p.Thr142Pro) c.*216A>C (n.*216A>C) c.327A>C (n.327A>C) c.708A>C c.*66A>C (n.*66A>C) c.1597A>C (p.Thr533Pro) c.484A>C (p.Thr162Pro) c.1579A>C (p.Thr527Pro) c.1294A>C (p.Thr432Pro) c.76A>C (p.Thr26Pro) n.446A>C | |
17 | g.63486644A>G | CA8699946 | ACE | c.2146A>G (p.Thr716Ala) c.424A>G (p.Thr142Ala) c.*216A>G (n.*216A>G) c.327A>G (n.327A>G) c.708A>G c.*66A>G (n.*66A>G) c.1597A>G (p.Thr533Ala) c.484A>G (p.Thr162Ala) c.1579A>G (p.Thr527Ala) c.1294A>G (p.Thr432Ala) c.76A>G (p.Thr26Ala) n.446A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486644A>T | CA400556078 | ACE | c.2146A>T (p.Thr716Ser) c.424A>T (p.Thr142Ser) c.*216A>T (n.*216A>T) c.327A>T (n.327A>T) c.708A>T c.*66A>T (n.*66A>T) c.1597A>T (p.Thr533Ser) c.484A>T (p.Thr162Ser) c.1579A>T (p.Thr527Ser) c.1294A>T (p.Thr432Ser) c.76A>T (p.Thr26Ser) n.446A>T | |
17 | g.63486645C>A | CA400556082 | ACE | c.2147C>A (p.Thr716Asn) c.425C>A (p.Thr142Asn) c.*217C>A (n.*217C>A) c.328C>A (n.328C>A) c.709C>A c.*67C>A (n.*67C>A) c.1598C>A (p.Thr533Asn) c.485C>A (p.Thr162Asn) c.1580C>A (p.Thr527Asn) c.1295C>A (p.Thr432Asn) c.77C>A (p.Thr26Asn) n.447C>A | |
17 | g.63486645C>G | CA400556084 | ACE | c.2147C>G (p.Thr716Ser) c.425C>G (p.Thr142Ser) c.*217C>G (n.*217C>G) c.328C>G (n.328C>G) c.709C>G c.*67C>G (n.*67C>G) c.1598C>G (p.Thr533Ser) c.485C>G (p.Thr162Ser) c.1580C>G (p.Thr527Ser) c.1295C>G (p.Thr432Ser) c.77C>G (p.Thr26Ser) n.447C>G | |
17 | g.63486645C>T | CA400556086 | ACE | c.2147C>T (p.Thr716Ile) c.425C>T (p.Thr142Ile) c.*217C>T (n.*217C>T) c.328C>T (n.328C>T) c.709C>T c.*67C>T (n.*67C>T) c.1598C>T (p.Thr533Ile) c.485C>T (p.Thr162Ile) c.1580C>T (p.Thr527Ile) c.1295C>T (p.Thr432Ile) c.77C>T (p.Thr26Ile) n.447C>T | gnomAD v4 |
17 | g.63486645_63486647delinsCTA | CA2269944862 | ACE | c.2147_2149delinsCTA (p.Thr716=) c.425_427delinsCTA (p.Thr142=) c.*217_*219delinsCTA (n.*217_*219delinsCTA) c.328_330delinsCTA (n.328_330delinsCTA) c.709_711delinsCTA c.*67_*69delinsCTA (n.*67_*69delinsCTA) c.1598_1600delinsCTA (p.Thr533=) c.485_487delinsCTA (p.Thr162=) c.1580_1582delinsCTA (p.Thr527=) c.1295_1297delinsCTA (p.Thr432=) c.77_79delinsCTA (p.Thr26=) n.447_449delinsCTA | |
17 | g.63486646T>A | CA501184325 | ACE | c.2148T>A (p.Thr716=) c.426T>A (p.Thr142=) c.*218T>A (n.*218T>A) c.329T>A (n.329T>A) c.710T>A c.*68T>A (n.*68T>A) c.1599T>A (p.Thr533=) c.486T>A (p.Thr162=) c.1581T>A (p.Thr527=) c.1296T>A (p.Thr432=) c.78T>A (p.Thr26=) n.448T>A | |
17 | g.63486646T>C | CA501184327 | ACE | c.2148T>C (p.Thr716=) c.426T>C (p.Thr142=) c.*218T>C (n.*218T>C) c.329T>C (n.329T>C) c.710T>C c.*68T>C (n.*68T>C) c.1599T>C (p.Thr533=) c.486T>C (p.Thr162=) c.1581T>C (p.Thr527=) c.1296T>C (p.Thr432=) c.78T>C (p.Thr26=) n.448T>C | gnomAD v4 |
17 | g.63486646T>G | CA501184329 | ACE | c.2148T>G (p.Thr716=) c.426T>G (p.Thr142=) c.*218T>G (n.*218T>G) c.329T>G (n.329T>G) c.710T>G c.*68T>G (n.*68T>G) c.1599T>G (p.Thr533=) c.486T>G (p.Thr162=) c.1581T>G (p.Thr527=) c.1296T>G (p.Thr432=) c.78T>G (p.Thr26=) n.448T>G | |
17 | g.63486647_63486648del | CA627148268 | ACE | c.2149_2150del (p.Ile717GlnfsTer?) c.427_428del (p.Ile143GlnfsTer?) c.*219_*220del (n.*219_*220del) c.330_331del (n.330_331del) c.711_712del c.*69_*70del (n.*69_*70del) c.1600_1601del (p.Ile534GlnfsTer?) c.487_488del (p.Ile163GlnfsTer?) c.1582_1583del (p.Ile528GlnfsTer?) c.1297_1298del (p.Ile433GlnfsTer?) c.79_80del (p.Ile27GlnfsTer?) n.449_450del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63486647A= | CA2269944863 | ACE | c.2149A= (p.Ile717=) c.427A= (p.Ile143=) c.*219A= (n.*219A=) c.330A= (n.330A=) c.711A= c.*69A= (n.*69A=) c.1600A= (p.Ile534=) c.487A= (p.Ile163=) c.1582A= (p.Ile528=) c.1297A= (p.Ile433=) c.79A= (p.Ile27=) n.449A= | |
17 | g.63486647A>C | CA400556089 | ACE | c.2149A>C (p.Ile717Leu) c.427A>C (p.Ile143Leu) c.*219A>C (n.*219A>C) c.330A>C (n.330A>C) c.711A>C c.*69A>C (n.*69A>C) c.1600A>C (p.Ile534Leu) c.487A>C (p.Ile163Leu) c.1582A>C (p.Ile528Leu) c.1297A>C (p.Ile433Leu) c.79A>C (p.Ile27Leu) n.449A>C | |
17 | g.63486647A>G | CA400556091 | ACE | c.2149A>G (p.Ile717Val) c.427A>G (p.Ile143Val) c.*219A>G (n.*219A>G) c.330A>G (n.330A>G) c.711A>G c.*69A>G (n.*69A>G) c.1600A>G (p.Ile534Val) c.487A>G (p.Ile163Val) c.1582A>G (p.Ile528Val) c.1297A>G (p.Ile433Val) c.79A>G (p.Ile27Val) n.449A>G | dbSNP gnomAD v4 |
17 | g.63486647A>T | CA400556094 | ACE | c.2149A>T (p.Ile717Phe) c.427A>T (p.Ile143Phe) c.*219A>T (n.*219A>T) c.330A>T (n.330A>T) c.711A>T c.*69A>T (n.*69A>T) c.1600A>T (p.Ile534Phe) c.487A>T (p.Ile163Phe) c.1582A>T (p.Ile528Phe) c.1297A>T (p.Ile433Phe) c.79A>T (p.Ile27Phe) n.449A>T | |
17 | g.63486651_63486659del | CA2639263165 | ACE | c.2153_2161del (p.Lys718_Ile720del) c.431_439del (p.Lys144_Ile146del) c.*223_*231del (n.*223_*231del) c.334_342del (n.334_342del) c.715_723del c.*73_*81del (n.*73_*81del) c.1604_1612del (p.Lys535_Ile537del) c.491_499del (p.Lys164_Ile166del) c.1586_1594del (p.Lys529_Ile531del) c.1301_1309del (p.Lys434_Ile436del) c.83_91del (p.Lys28_Ile30del) n.453_461del | gnomAD v4 |
17 | g.63486648T>A | CA400556098 | ACE | c.2150T>A (p.Ile717Asn) c.428T>A (p.Ile143Asn) c.*220T>A (n.*220T>A) c.331T>A (n.331T>A) c.712T>A c.*70T>A (n.*70T>A) c.1601T>A (p.Ile534Asn) c.488T>A (p.Ile163Asn) c.1583T>A (p.Ile528Asn) c.1298T>A (p.Ile433Asn) c.80T>A (p.Ile27Asn) n.450T>A | |
17 | g.63486648T>C | CA400556100 | ACE | c.2150T>C (p.Ile717Thr) c.428T>C (p.Ile143Thr) c.*220T>C (n.*220T>C) c.331T>C (n.331T>C) c.712T>C c.*70T>C (n.*70T>C) c.1601T>C (p.Ile534Thr) c.488T>C (p.Ile163Thr) c.1583T>C (p.Ile528Thr) c.1298T>C (p.Ile433Thr) c.80T>C (p.Ile27Thr) n.450T>C | gnomAD v4 |
17 | g.63486648T>G | CA400556102 | ACE | c.2150T>G (p.Ile717Ser) c.428T>G (p.Ile143Ser) c.*220T>G (n.*220T>G) c.331T>G (n.331T>G) c.712T>G c.*70T>G (n.*70T>G) c.1601T>G (p.Ile534Ser) c.488T>G (p.Ile163Ser) c.1583T>G (p.Ile528Ser) c.1298T>G (p.Ile433Ser) c.80T>G (p.Ile27Ser) n.450T>G | |
17 | g.63486649C>A | CA501184337 | ACE | c.2151C>A (p.Ile717=) c.429C>A (p.Ile143=) c.*221C>A (n.*221C>A) c.332C>A (n.332C>A) c.713C>A c.*71C>A (n.*71C>A) c.1602C>A (p.Ile534=) c.489C>A (p.Ile163=) c.1584C>A (p.Ile528=) c.1299C>A (p.Ile433=) c.81C>A (p.Ile27=) n.451C>A | |
17 | g.63486649C= | CA2269944864 | ACE | c.2151C= (p.Ile717=) c.429C= (p.Ile143=) c.*221C= (n.*221C=) c.332C= (n.332C=) c.713C= c.*71C= (n.*71C=) c.1602C= (p.Ile534=) c.489C= (p.Ile163=) c.1584C= (p.Ile528=) c.1299C= (p.Ile433=) c.81C= (p.Ile27=) n.451C= | |
17 | g.63486649C>G | CA8699947 | ACE | c.2151C>G (p.Ile717Met) c.429C>G (p.Ile143Met) c.*221C>G (n.*221C>G) c.332C>G (n.332C>G) c.713C>G c.*71C>G (n.*71C>G) c.1602C>G (p.Ile534Met) c.489C>G (p.Ile163Met) c.1584C>G (p.Ile528Met) c.1299C>G (p.Ile433Met) c.81C>G (p.Ile27Met) n.451C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63486649C>T | CA501184340 | ACE | c.2151C>T (p.Ile717=) c.429C>T (p.Ile143=) c.*221C>T (n.*221C>T) c.332C>T (n.332C>T) c.713C>T c.*71C>T (n.*71C>T) c.1602C>T (p.Ile534=) c.489C>T (p.Ile163=) c.1584C>T (p.Ile528=) c.1299C>T (p.Ile433=) c.81C>T (p.Ile27=) n.451C>T | gnomAD v4 |
17 | g.63486650A>C | CA400556107 | ACE | c.2152A>C (p.Lys718Gln) c.430A>C (p.Lys144Gln) c.*222A>C (n.*222A>C) c.333A>C (n.333A>C) c.714A>C c.*72A>C (n.*72A>C) c.1603A>C (p.Lys535Gln) c.490A>C (p.Lys164Gln) c.1585A>C (p.Lys529Gln) c.1300A>C (p.Lys434Gln) c.82A>C (p.Lys28Gln) n.452A>C | |
17 | g.63486650A>G | CA400556108 | ACE | c.2152A>G (p.Lys718Glu) c.430A>G (p.Lys144Glu) c.*222A>G (n.*222A>G) c.333A>G (n.333A>G) c.714A>G c.*72A>G (n.*72A>G) c.1603A>G (p.Lys535Glu) c.490A>G (p.Lys164Glu) c.1585A>G (p.Lys529Glu) c.1300A>G (p.Lys434Glu) c.82A>G (p.Lys28Glu) n.452A>G | |
17 | g.63486650A>T | CA400556110 | ACE | c.2152A>T (p.Lys718Ter) c.430A>T (p.Lys144Ter) c.*222A>T (n.*222A>T) c.333A>T (n.333A>T) c.714A>T c.*72A>T (n.*72A>T) c.1603A>T (p.Lys535Ter) c.490A>T (p.Lys164Ter) c.1585A>T (p.Lys529Ter) c.1300A>T (p.Lys434Ter) c.82A>T (p.Lys28Ter) n.452A>T | |
17 | g.63486651A= | CA2269944865 | ACE | c.2153A= (p.Lys718=) c.431A= (p.Lys144=) c.*223A= (n.*223A=) c.334A= (n.334A=) c.715A= c.*73A= (n.*73A=) c.1604A= (p.Lys535=) c.491A= (p.Lys164=) c.1586A= (p.Lys529=) c.1301A= (p.Lys434=) c.83A= (p.Lys28=) n.453A= | |
17 | g.63486651A>C | CA400556116 | ACE | c.2153A>C (p.Lys718Thr) c.431A>C (p.Lys144Thr) c.*223A>C (n.*223A>C) c.334A>C (n.334A>C) c.715A>C c.*73A>C (n.*73A>C) c.1604A>C (p.Lys535Thr) c.491A>C (p.Lys164Thr) c.1586A>C (p.Lys529Thr) c.1301A>C (p.Lys434Thr) c.83A>C (p.Lys28Thr) n.453A>C | |
17 | g.63486651A>G | CA400556114 | ACE | c.2153A>G (p.Lys718Arg) c.431A>G (p.Lys144Arg) c.*223A>G (n.*223A>G) c.334A>G (n.334A>G) c.715A>G c.*73A>G (n.*73A>G) c.1604A>G (p.Lys535Arg) c.491A>G (p.Lys164Arg) c.1586A>G (p.Lys529Arg) c.1301A>G (p.Lys434Arg) c.83A>G (p.Lys28Arg) n.453A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486651A>T | CA400556113 | ACE | c.2153A>T (p.Lys718Met) c.431A>T (p.Lys144Met) c.*223A>T (n.*223A>T) c.334A>T (n.334A>T) c.715A>T c.*73A>T (n.*73A>T) c.1604A>T (p.Lys535Met) c.491A>T (p.Lys164Met) c.1586A>T (p.Lys529Met) c.1301A>T (p.Lys434Met) c.83A>T (p.Lys28Met) n.453A>T | |
17 | g.63486652G>A | CA501184351 | ACE | c.2154G>A (p.Lys718=) c.432G>A (p.Lys144=) c.*224G>A (n.*224G>A) c.335G>A (n.335G>A) c.716G>A c.*74G>A (n.*74G>A) c.1605G>A (p.Lys535=) c.492G>A (p.Lys164=) c.1587G>A (p.Lys529=) c.1302G>A (p.Lys434=) c.84G>A (p.Lys28=) n.454G>A | |
17 | g.63486652G>C | CA400556118 | ACE | c.2154G>C (p.Lys718Asn) c.432G>C (p.Lys144Asn) c.*224G>C (n.*224G>C) c.335G>C (n.335G>C) c.716G>C c.*74G>C (n.*74G>C) c.1605G>C (p.Lys535Asn) c.492G>C (p.Lys164Asn) c.1587G>C (p.Lys529Asn) c.1302G>C (p.Lys434Asn) c.84G>C (p.Lys28Asn) n.454G>C | |
17 | g.63486652G>T | CA400556120 | ACE | c.2154G>T (p.Lys718Asn) c.432G>T (p.Lys144Asn) c.*224G>T (n.*224G>T) c.335G>T (n.335G>T) c.716G>T c.*74G>T (n.*74G>T) c.1605G>T (p.Lys535Asn) c.492G>T (p.Lys164Asn) c.1587G>T (p.Lys529Asn) c.1302G>T (p.Lys434Asn) c.84G>T (p.Lys28Asn) n.454G>T | |
17 | g.63486653C>A | CA501184354 | ACE | c.2155C>A (p.Arg719=) c.433C>A (p.Arg145=) c.*225C>A (n.*225C>A) c.336C>A (n.336C>A) c.717C>A c.*75C>A (n.*75C>A) c.1606C>A (p.Arg536=) c.493C>A (p.Arg165=) c.1588C>A (p.Arg530=) c.1303C>A (p.Arg435=) c.85C>A (p.Arg29=) n.455C>A | |
17 | g.63486653C= | CA2269944866 | ACE | c.2155C= (p.Arg719=) c.433C= (p.Arg145=) c.*225C= (n.*225C=) c.336C= (n.336C=) c.717C= c.*75C= (n.*75C=) c.1606C= (p.Arg536=) c.493C= (p.Arg165=) c.1588C= (p.Arg530=) c.1303C= (p.Arg435=) c.85C= (p.Arg29=) n.455C= | |
17 | g.63486653C>G | CA400556123 | ACE | c.2155C>G (p.Arg719Gly) c.433C>G (p.Arg145Gly) c.*225C>G (n.*225C>G) c.336C>G (n.336C>G) c.717C>G c.*75C>G (n.*75C>G) c.1606C>G (p.Arg536Gly) c.493C>G (p.Arg165Gly) c.1588C>G (p.Arg530Gly) c.1303C>G (p.Arg435Gly) c.85C>G (p.Arg29Gly) n.455C>G | |
17 | g.63486653C>T | CA8699948 | ACE | c.2155C>T (p.Arg719Trp) c.433C>T (p.Arg145Trp) c.*225C>T (n.*225C>T) c.336C>T (n.336C>T) c.717C>T c.*75C>T (n.*75C>T) c.1606C>T (p.Arg536Trp) c.493C>T (p.Arg165Trp) c.1588C>T (p.Arg530Trp) c.1303C>T (p.Arg435Trp) c.85C>T (p.Arg29Trp) n.455C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486654G>A | CA8699949 | ACE | c.2156G>A (p.Arg719Gln) c.434G>A (p.Arg145Gln) c.*226G>A (n.*226G>A) c.337G>A (n.337G>A) c.718G>A c.*76G>A (n.*76G>A) c.1607G>A (p.Arg536Gln) c.494G>A (p.Arg165Gln) c.1589G>A (p.Arg530Gln) c.1304G>A (p.Arg435Gln) c.86G>A (p.Arg29Gln) n.456G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486654G>C | CA400556128 | ACE | c.2156G>C (p.Arg719Pro) c.434G>C (p.Arg145Pro) c.*226G>C (n.*226G>C) c.337G>C (n.337G>C) c.718G>C c.*76G>C (n.*76G>C) c.1607G>C (p.Arg536Pro) c.494G>C (p.Arg165Pro) c.1589G>C (p.Arg530Pro) c.1304G>C (p.Arg435Pro) c.86G>C (p.Arg29Pro) n.456G>C | |
17 | g.63486654G= | CA2269944867 | ACE | c.2156G= (p.Arg719=) c.434G= (p.Arg145=) c.*226G= (n.*226G=) c.337G= (n.337G=) c.718G= c.*76G= (n.*76G=) c.1607G= (p.Arg536=) c.494G= (p.Arg165=) c.1589G= (p.Arg530=) c.1304G= (p.Arg435=) c.86G= (p.Arg29=) n.456G= | |
17 | g.63486654G>T | CA400556130 | ACE | c.2156G>T (p.Arg719Leu) c.434G>T (p.Arg145Leu) c.*226G>T (n.*226G>T) c.337G>T (n.337G>T) c.718G>T c.*76G>T (n.*76G>T) c.1607G>T (p.Arg536Leu) c.494G>T (p.Arg165Leu) c.1589G>T (p.Arg530Leu) c.1304G>T (p.Arg435Leu) c.86G>T (p.Arg29Leu) n.456G>T | |
17 | g.63486655G>A | CA501184372 | ACE | c.2157G>A (p.Arg719=) c.435G>A (p.Arg145=) c.*227G>A (n.*227G>A) c.338G>A (n.338G>A) c.719G>A c.*77G>A (n.*77G>A) c.1608G>A (p.Arg536=) c.495G>A (p.Arg165=) c.1590G>A (p.Arg530=) c.1305G>A (p.Arg435=) c.87G>A (p.Arg29=) n.457G>A | |
17 | g.63486655G>C | CA501184369 | ACE | c.2157G>C (p.Arg719=) c.435G>C (p.Arg145=) c.*227G>C (n.*227G>C) c.338G>C (n.338G>C) c.719G>C c.*77G>C (n.*77G>C) c.1608G>C (p.Arg536=) c.495G>C (p.Arg165=) c.1590G>C (p.Arg530=) c.1305G>C (p.Arg435=) c.87G>C (p.Arg29=) n.457G>C | |
17 | g.63486655G>T | CA501184367 | ACE | c.2157G>T (p.Arg719=) c.435G>T (p.Arg145=) c.*227G>T (n.*227G>T) c.338G>T (n.338G>T) c.719G>T c.*77G>T (n.*77G>T) c.1608G>T (p.Arg536=) c.495G>T (p.Arg165=) c.1590G>T (p.Arg530=) c.1305G>T (p.Arg435=) c.87G>T (p.Arg29=) n.457G>T | gnomAD v4 |
17 | g.63486656A>C | CA400556132 | ACE | c.2158A>C (p.Ile720Leu) c.436A>C (p.Ile146Leu) c.*228A>C (n.*228A>C) c.339A>C (n.339A>C) c.720A>C c.*78A>C (n.*78A>C) c.1609A>C (p.Ile537Leu) c.496A>C (p.Ile166Leu) c.1591A>C (p.Ile531Leu) c.1306A>C (p.Ile436Leu) c.88A>C (p.Ile30Leu) n.458A>C | |
17 | g.63486656A>G | CA400556134 | ACE | c.2158A>G (p.Ile720Val) c.436A>G (p.Ile146Val) c.*228A>G (n.*228A>G) c.339A>G (n.339A>G) c.720A>G c.*78A>G (n.*78A>G) c.1609A>G (p.Ile537Val) c.496A>G (p.Ile166Val) c.1591A>G (p.Ile531Val) c.1306A>G (p.Ile436Val) c.88A>G (p.Ile30Val) n.458A>G | |
17 | g.63486656A>T | CA400556136 | ACE | c.2158A>T (p.Ile720Phe) c.436A>T (p.Ile146Phe) c.*228A>T (n.*228A>T) c.339A>T (n.339A>T) c.720A>T c.*78A>T (n.*78A>T) c.1609A>T (p.Ile537Phe) c.496A>T (p.Ile166Phe) c.1591A>T (p.Ile531Phe) c.1306A>T (p.Ile436Phe) c.88A>T (p.Ile30Phe) n.458A>T | |
17 | g.63486657T>A | CA400556139 | ACE | c.2159T>A (p.Ile720Asn) c.437T>A (p.Ile146Asn) c.*229T>A (n.*229T>A) c.340T>A (n.340T>A) c.721T>A c.*79T>A (n.*79T>A) c.1610T>A (p.Ile537Asn) c.497T>A (p.Ile166Asn) c.1592T>A (p.Ile531Asn) c.1307T>A (p.Ile436Asn) c.89T>A (p.Ile30Asn) n.459T>A | |
17 | g.63486657T>C | CA400556140 | ACE | c.2159T>C (p.Ile720Thr) c.437T>C (p.Ile146Thr) c.*229T>C (n.*229T>C) c.340T>C (n.340T>C) c.721T>C c.*79T>C (n.*79T>C) c.1610T>C (p.Ile537Thr) c.497T>C (p.Ile166Thr) c.1592T>C (p.Ile531Thr) c.1307T>C (p.Ile436Thr) c.89T>C (p.Ile30Thr) n.459T>C | |
17 | g.63486657T>G | CA400556141 | ACE | c.2159T>G (p.Ile720Ser) c.437T>G (p.Ile146Ser) c.*229T>G (n.*229T>G) c.340T>G (n.340T>G) c.721T>G c.*79T>G (n.*79T>G) c.1610T>G (p.Ile537Ser) c.497T>G (p.Ile166Ser) c.1592T>G (p.Ile531Ser) c.1307T>G (p.Ile436Ser) c.89T>G (p.Ile30Ser) n.459T>G | |
17 | g.63486658C>A | CA501184383 | ACE | c.2160C>A (p.Ile720=) c.438C>A (p.Ile146=) c.*230C>A (n.*230C>A) c.341C>A (n.341C>A) c.722C>A c.*80C>A (n.*80C>A) c.1611C>A (p.Ile537=) c.498C>A (p.Ile166=) c.1593C>A (p.Ile531=) c.1308C>A (p.Ile436=) c.90C>A (p.Ile30=) n.460C>A | dbSNP gnomAD v2 |
17 | g.63486658C= | CA2269944868 | ACE | c.2160C= (p.Ile720=) c.438C= (p.Ile146=) c.*230C= (n.*230C=) c.341C= (n.341C=) c.722C= c.*80C= (n.*80C=) c.1611C= (p.Ile537=) c.498C= (p.Ile166=) c.1593C= (p.Ile531=) c.1308C= (p.Ile436=) c.90C= (p.Ile30=) n.460C= | |
17 | g.63486658C>G | CA400556142 | ACE | c.2160C>G (p.Ile720Met) c.438C>G (p.Ile146Met) c.*230C>G (n.*230C>G) c.341C>G (n.341C>G) c.722C>G c.*80C>G (n.*80C>G) c.1611C>G (p.Ile537Met) c.498C>G (p.Ile166Met) c.1593C>G (p.Ile531Met) c.1308C>G (p.Ile436Met) c.90C>G (p.Ile30Met) n.460C>G | |
17 | g.63486658C>T | CA501184386 | ACE | c.2160C>T (p.Ile720=) c.438C>T (p.Ile146=) c.*230C>T (n.*230C>T) c.341C>T (n.341C>T) c.722C>T c.*80C>T (n.*80C>T) c.1611C>T (p.Ile537=) c.498C>T (p.Ile166=) c.1593C>T (p.Ile531=) c.1308C>T (p.Ile436=) c.90C>T (p.Ile30=) n.460C>T | |
17 | g.63486659A= | CA2269944869 | ACE | c.2161A= (p.Ile721=) c.439A= (p.Ile147=) c.*231A= (n.*231A=) c.342A= (n.342A=) c.723A= c.*81A= (n.*81A=) c.1612A= (p.Ile538=) c.499A= (p.Ile167=) c.1594A= (p.Ile532=) c.1309A= (p.Ile437=) c.91A= (p.Ile31=) n.461A= | |
17 | g.63486659A>C | CA400556148 | ACE | c.2161A>C (p.Ile721Leu) c.439A>C (p.Ile147Leu) c.*231A>C (n.*231A>C) c.342A>C (n.342A>C) c.723A>C c.*81A>C (n.*81A>C) c.1612A>C (p.Ile538Leu) c.499A>C (p.Ile167Leu) c.1594A>C (p.Ile532Leu) c.1309A>C (p.Ile437Leu) c.91A>C (p.Ile31Leu) n.461A>C | |
17 | g.63486659A>G | CA8699950 | ACE | c.2161A>G (p.Ile721Val) c.439A>G (p.Ile147Val) c.*231A>G (n.*231A>G) c.342A>G (n.342A>G) c.723A>G c.*81A>G (n.*81A>G) c.1612A>G (p.Ile538Val) c.499A>G (p.Ile167Val) c.1594A>G (p.Ile532Val) c.1309A>G (p.Ile437Val) c.91A>G (p.Ile31Val) n.461A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63486659A>T | CA400556145 | ACE | c.2161A>T (p.Ile721Leu) c.439A>T (p.Ile147Leu) c.*231A>T (n.*231A>T) c.342A>T (n.342A>T) c.723A>T c.*81A>T (n.*81A>T) c.1612A>T (p.Ile538Leu) c.499A>T (p.Ile167Leu) c.1594A>T (p.Ile532Leu) c.1309A>T (p.Ile437Leu) c.91A>T (p.Ile31Leu) n.461A>T | |
17 | g.63486660_63486661del | CA2695226804 | ACE | c.2162_2163del (p.Ile721LysfsTer?) c.440_441del (p.Ile147LysfsTer?) c.*232_*233del (n.*232_*233del) c.343_344del (n.343_344del) c.724_725del c.*82_*83del (n.*82_*83del) c.1613_1614del (p.Ile538LysfsTer?) c.500_501del (p.Ile167LysfsTer?) c.1595_1596del (p.Ile532LysfsTer?) c.1310_1311del (p.Ile437LysfsTer?) c.92_93del (p.Ile31LysfsTer?) n.462_463del | |
17 | g.63486660T>A | CA400556150 | ACE | c.2162T>A (p.Ile721Lys) c.440T>A (p.Ile147Lys) c.*232T>A (n.*232T>A) c.343T>A (n.343T>A) c.724T>A c.*82T>A (n.*82T>A) c.1613T>A (p.Ile538Lys) c.500T>A (p.Ile167Lys) c.1595T>A (p.Ile532Lys) c.1310T>A (p.Ile437Lys) c.92T>A (p.Ile31Lys) n.462T>A | |
17 | g.63486660T>C | CA400556152 | ACE | c.2162T>C (p.Ile721Thr) c.440T>C (p.Ile147Thr) c.*232T>C (n.*232T>C) c.343T>C (n.343T>C) c.724T>C c.*82T>C (n.*82T>C) c.1613T>C (p.Ile538Thr) c.500T>C (p.Ile167Thr) c.1595T>C (p.Ile532Thr) c.1310T>C (p.Ile437Thr) c.92T>C (p.Ile31Thr) n.462T>C | |
17 | g.63486660T>G | CA400556153 | ACE | c.2162T>G (p.Ile721Arg) c.440T>G (p.Ile147Arg) c.*232T>G (n.*232T>G) c.343T>G (n.343T>G) c.724T>G c.*82T>G (n.*82T>G) c.1613T>G (p.Ile538Arg) c.500T>G (p.Ile167Arg) c.1595T>G (p.Ile532Arg) c.1310T>G (p.Ile437Arg) c.92T>G (p.Ile31Arg) n.462T>G | |
17 | g.63486661A= | CA2269944870 | ACE | c.2163A= (p.Ile721=) c.441A= (p.Ile147=) c.*233A= (n.*233A=) c.344A= (n.344A=) c.725A= c.*83A= (n.*83A=) c.1614A= (p.Ile538=) c.501A= (p.Ile167=) c.1596A= (p.Ile532=) c.1311A= (p.Ile437=) c.93A= (p.Ile31=) n.463A= | |
17 | g.63486661A>C | CA501184397 | ACE | c.2163A>C (p.Ile721=) c.441A>C (p.Ile147=) c.*233A>C (n.*233A>C) c.344A>C (n.344A>C) c.725A>C c.*83A>C (n.*83A>C) c.1614A>C (p.Ile538=) c.501A>C (p.Ile167=) c.1596A>C (p.Ile532=) c.1311A>C (p.Ile437=) c.93A>C (p.Ile31=) n.463A>C | |
17 | g.63486661A>G | CA400556155 | ACE | c.2163A>G (p.Ile721Met) c.441A>G (p.Ile147Met) c.*233A>G (n.*233A>G) c.344A>G (n.344A>G) c.725A>G c.*83A>G (n.*83A>G) c.1614A>G (p.Ile538Met) c.501A>G (p.Ile167Met) c.1596A>G (p.Ile532Met) c.1311A>G (p.Ile437Met) c.93A>G (p.Ile31Met) n.463A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.63486661A>T | CA501184402 | ACE | c.2163A>T (p.Ile721=) c.441A>T (p.Ile147=) c.*233A>T (n.*233A>T) c.344A>T (n.344A>T) c.725A>T c.*83A>T (n.*83A>T) c.1614A>T (p.Ile538=) c.501A>T (p.Ile167=) c.1596A>T (p.Ile532=) c.1311A>T (p.Ile437=) c.93A>T (p.Ile31=) n.463A>T | |
17 | g.63486663_63486666del | CA2639263166 | ACE | c.2165_2168del (p.Lys722ArgfsTer5) c.443_446del (p.Lys148ArgfsTer5) c.*235_*238del (n.*235_*238del) c.346_349del (n.346_349del) c.727_730del c.*85_*88del (n.*85_*88del) c.1616_1619del (p.Lys539ArgfsTer5) c.503_506del (p.Lys168ArgfsTer5) c.1598_1601del (p.Lys533ArgfsTer5) c.1313_1316del (p.Lys438ArgfsTer5) c.95_98del (p.Lys32ArgfsTer5) n.465_468del | gnomAD v4 |
17 | g.63486662A>C | CA400556156 | ACE | c.2164A>C (p.Lys722Gln) c.442A>C (p.Lys148Gln) c.*234A>C (n.*234A>C) c.345A>C (n.345A>C) c.726A>C c.*84A>C (n.*84A>C) c.1615A>C (p.Lys539Gln) c.502A>C (p.Lys168Gln) c.1597A>C (p.Lys533Gln) c.1312A>C (p.Lys438Gln) c.94A>C (p.Lys32Gln) n.464A>C | |
17 | g.63486662A>G | CA400556158 | ACE | c.2164A>G (p.Lys722Glu) c.442A>G (p.Lys148Glu) c.*234A>G (n.*234A>G) c.345A>G (n.345A>G) c.726A>G c.*84A>G (n.*84A>G) c.1615A>G (p.Lys539Glu) c.502A>G (p.Lys168Glu) c.1597A>G (p.Lys533Glu) c.1312A>G (p.Lys438Glu) c.94A>G (p.Lys32Glu) n.464A>G | |
17 | g.63486662A>T | CA400556159 | ACE | c.2164A>T (p.Lys722Ter) c.442A>T (p.Lys148Ter) c.*234A>T (n.*234A>T) c.345A>T (n.345A>T) c.726A>T c.*84A>T (n.*84A>T) c.1615A>T (p.Lys539Ter) c.502A>T (p.Lys168Ter) c.1597A>T (p.Lys533Ter) c.1312A>T (p.Lys438Ter) c.94A>T (p.Lys32Ter) n.464A>T | |
17 | g.63486663A>C | CA400556166 | ACE | c.2165A>C (p.Lys722Thr) c.443A>C (p.Lys148Thr) c.*235A>C (n.*235A>C) c.346A>C (n.346A>C) c.727A>C c.*85A>C (n.*85A>C) c.1616A>C (p.Lys539Thr) c.503A>C (p.Lys168Thr) c.1598A>C (p.Lys533Thr) c.1313A>C (p.Lys438Thr) c.95A>C (p.Lys32Thr) n.465A>C | |
17 | g.63486663A>G | CA400556162 | ACE | c.2165A>G (p.Lys722Arg) c.443A>G (p.Lys148Arg) c.*235A>G (n.*235A>G) c.346A>G (n.346A>G) c.727A>G c.*85A>G (n.*85A>G) c.1616A>G (p.Lys539Arg) c.503A>G (p.Lys168Arg) c.1598A>G (p.Lys533Arg) c.1313A>G (p.Lys438Arg) c.95A>G (p.Lys32Arg) n.465A>G | |
17 | g.63486663A>T | CA400556164 | ACE | c.2165A>T (p.Lys722Met) c.443A>T (p.Lys148Met) c.*235A>T (n.*235A>T) c.346A>T (n.346A>T) c.727A>T c.*85A>T (n.*85A>T) c.1616A>T (p.Lys539Met) c.503A>T (p.Lys168Met) c.1598A>T (p.Lys533Met) c.1313A>T (p.Lys438Met) c.95A>T (p.Lys32Met) n.465A>T | |
17 | g.63486664G>A | CA501184415 | ACE | c.2166G>A (p.Lys722=) c.444G>A (p.Lys148=) c.*236G>A (n.*236G>A) c.347G>A (n.347G>A) c.728G>A c.*86G>A (n.*86G>A) c.1617G>A (p.Lys539=) c.504G>A (p.Lys168=) c.1599G>A (p.Lys533=) c.1314G>A (p.Lys438=) c.96G>A (p.Lys32=) n.466G>A | |
17 | g.63486664G>C | CA8699951 | ACE | c.2166G>C (p.Lys722Asn) c.444G>C (p.Lys148Asn) c.*236G>C (n.*236G>C) c.347G>C (n.347G>C) c.728G>C c.*86G>C (n.*86G>C) c.1617G>C (p.Lys539Asn) c.504G>C (p.Lys168Asn) c.1599G>C (p.Lys533Asn) c.1314G>C (p.Lys438Asn) c.96G>C (p.Lys32Asn) n.466G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486664G= | CA2269944871 | ACE | c.2166G= (p.Lys722=) c.444G= (p.Lys148=) c.*236G= (n.*236G=) c.347G= (n.347G=) c.728G= c.*86G= (n.*86G=) c.1617G= (p.Lys539=) c.504G= (p.Lys168=) c.1599G= (p.Lys533=) c.1314G= (p.Lys438=) c.96G= (p.Lys32=) n.466G= | |
17 | g.63486664G>T | CA400556170 | ACE | c.2166G>T (p.Lys722Asn) c.444G>T (p.Lys148Asn) c.*236G>T (n.*236G>T) c.347G>T (n.347G>T) c.728G>T c.*86G>T (n.*86G>T) c.1617G>T (p.Lys539Asn) c.504G>T (p.Lys168Asn) c.1599G>T (p.Lys533Asn) c.1314G>T (p.Lys438Asn) c.96G>T (p.Lys32Asn) n.466G>T | |
17 | g.63486665A>C | CA400556174 | ACE | c.2167A>C (p.Lys723Gln) c.445A>C (p.Lys149Gln) c.*237A>C (n.*237A>C) c.348A>C (n.348A>C) c.729A>C c.*87A>C (n.*87A>C) c.1618A>C (p.Lys540Gln) c.505A>C (p.Lys169Gln) c.1600A>C (p.Lys534Gln) c.1315A>C (p.Lys439Gln) c.97A>C (p.Lys33Gln) n.467A>C | |
17 | g.63486665A>G | CA400556176 | ACE | c.2167A>G (p.Lys723Glu) c.445A>G (p.Lys149Glu) c.*237A>G (n.*237A>G) c.348A>G (n.348A>G) c.729A>G c.*87A>G (n.*87A>G) c.1618A>G (p.Lys540Glu) c.505A>G (p.Lys169Glu) c.1600A>G (p.Lys534Glu) c.1315A>G (p.Lys439Glu) c.97A>G (p.Lys33Glu) n.467A>G | |
17 | g.63486665A>T | CA400556178 | ACE | c.2167A>T (p.Lys723Ter) c.445A>T (p.Lys149Ter) c.*237A>T (n.*237A>T) c.348A>T (n.348A>T) c.729A>T c.*87A>T (n.*87A>T) c.1618A>T (p.Lys540Ter) c.505A>T (p.Lys169Ter) c.1600A>T (p.Lys534Ter) c.1315A>T (p.Lys439Ter) c.97A>T (p.Lys33Ter) n.467A>T | |
17 | g.63486666A>C | CA400556182 | ACE | c.2168A>C (p.Lys723Thr) c.446A>C (p.Lys149Thr) c.*238A>C (n.*238A>C) c.349A>C (n.349A>C) c.730A>C c.*88A>C (n.*88A>C) c.1619A>C (p.Lys540Thr) c.506A>C (p.Lys169Thr) c.1601A>C (p.Lys534Thr) c.1316A>C (p.Lys439Thr) c.98A>C (p.Lys33Thr) n.468A>C | |
17 | g.63486666A>G | CA400556186 | ACE | c.2168A>G (p.Lys723Arg) c.446A>G (p.Lys149Arg) c.*238A>G (n.*238A>G) c.349A>G (n.349A>G) c.730A>G c.*88A>G (n.*88A>G) c.1619A>G (p.Lys540Arg) c.506A>G (p.Lys169Arg) c.1601A>G (p.Lys534Arg) c.1316A>G (p.Lys439Arg) c.98A>G (p.Lys33Arg) n.468A>G | |
17 | g.63486666A>T | CA400556184 | ACE | c.2168A>T (p.Lys723Met) c.446A>T (p.Lys149Met) c.*238A>T (n.*238A>T) c.349A>T (n.349A>T) c.730A>T c.*88A>T (n.*88A>T) c.1619A>T (p.Lys540Met) c.506A>T (p.Lys169Met) c.1601A>T (p.Lys534Met) c.1316A>T (p.Lys439Met) c.98A>T (p.Lys33Met) n.468A>T | |
17 | g.63486667G>A | CA501184432 | ACE | c.2169G>A (p.Lys723=) c.447G>A (p.Lys149=) c.*239G>A (n.*239G>A) c.350G>A (n.350G>A) c.731G>A c.*89G>A (n.*89G>A) c.1620G>A (p.Lys540=) c.507G>A (p.Lys169=) c.1602G>A (p.Lys534=) c.1317G>A (p.Lys439=) c.99G>A (p.Lys33=) n.469G>A | dbSNP |
17 | g.63486667G>C | CA400556188 | ACE | c.2169G>C (p.Lys723Asn) c.447G>C (p.Lys149Asn) c.*239G>C (n.*239G>C) c.350G>C (n.350G>C) c.731G>C c.*89G>C (n.*89G>C) c.1620G>C (p.Lys540Asn) c.507G>C (p.Lys169Asn) c.1602G>C (p.Lys534Asn) c.1317G>C (p.Lys439Asn) c.99G>C (p.Lys33Asn) n.469G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63486667G= | CA2269944872 | ACE | c.2169G= (p.Lys723=) c.447G= (p.Lys149=) c.*239G= (n.*239G=) c.350G= (n.350G=) c.731G= c.*89G= (n.*89G=) c.1620G= (p.Lys540=) c.507G= (p.Lys169=) c.1602G= (p.Lys534=) c.1317G= (p.Lys439=) c.99G= (p.Lys33=) n.469G= | |
17 | g.63486667G>T | CA400556190 | ACE | c.2169G>T (p.Lys723Asn) c.447G>T (p.Lys149Asn) c.*239G>T (n.*239G>T) c.350G>T (n.350G>T) c.731G>T c.*89G>T (n.*89G>T) c.1620G>T (p.Lys540Asn) c.507G>T (p.Lys169Asn) c.1602G>T (p.Lys534Asn) c.1317G>T (p.Lys439Asn) c.99G>T (p.Lys33Asn) n.469G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63486668G>A | CA400556193 | ACE | c.2170G>A (p.Val724Ile) c.448G>A (p.Val150Ile) c.*240G>A (n.*240G>A) c.351G>A (n.351G>A) c.732G>A c.*90G>A (n.*90G>A) c.1621G>A (p.Val541Ile) c.508G>A (p.Val170Ile) c.1603G>A (p.Val535Ile) c.1318G>A (p.Val440Ile) c.100G>A (p.Val34Ile) n.470G>A | |
17 | g.63486668G>C | CA400556195 | ACE | c.2170G>C (p.Val724Leu) c.448G>C (p.Val150Leu) c.*240G>C (n.*240G>C) c.351G>C (n.351G>C) c.732G>C c.*90G>C (n.*90G>C) c.1621G>C (p.Val541Leu) c.508G>C (p.Val170Leu) c.1603G>C (p.Val535Leu) c.1318G>C (p.Val440Leu) c.100G>C (p.Val34Leu) n.470G>C | |
17 | g.63486668G>T | CA400556197 | ACE | c.2170G>T (p.Val724Phe) c.448G>T (p.Val150Phe) c.*240G>T (n.*240G>T) c.351G>T (n.351G>T) c.732G>T c.*90G>T (n.*90G>T) c.1621G>T (p.Val541Phe) c.508G>T (p.Val170Phe) c.1603G>T (p.Val535Phe) c.1318G>T (p.Val440Phe) c.100G>T (p.Val34Phe) n.470G>T | |
17 | g.63486669T>A | CA400556200 | ACE | c.2171T>A (p.Val724Asp) c.449T>A (p.Val150Asp) c.*241T>A (n.*241T>A) c.352T>A (n.352T>A) c.733T>A c.*91T>A (n.*91T>A) c.1622T>A (p.Val541Asp) c.509T>A (p.Val170Asp) c.1604T>A (p.Val535Asp) c.1319T>A (p.Val440Asp) c.101T>A (p.Val34Asp) n.471T>A | |
17 | g.63486669T>C | CA400556203 | ACE | c.2171T>C (p.Val724Ala) c.449T>C (p.Val150Ala) c.*241T>C (n.*241T>C) c.352T>C (n.352T>C) c.733T>C c.*91T>C (n.*91T>C) c.1622T>C (p.Val541Ala) c.509T>C (p.Val170Ala) c.1604T>C (p.Val535Ala) c.1319T>C (p.Val440Ala) c.101T>C (p.Val34Ala) n.471T>C | |
17 | g.63486669T>G | CA400556205 | ACE | c.2171T>G (p.Val724Gly) c.449T>G (p.Val150Gly) c.*241T>G (n.*241T>G) c.352T>G (n.352T>G) c.733T>G c.*91T>G (n.*91T>G) c.1622T>G (p.Val541Gly) c.509T>G (p.Val170Gly) c.1604T>G (p.Val535Gly) c.1319T>G (p.Val440Gly) c.101T>G (p.Val34Gly) n.471T>G | |
17 | g.63486670T>A | CA501184453 | ACE | c.2172T>A (p.Val724=) c.450T>A (p.Val150=) c.*242T>A (n.*242T>A) c.353T>A (n.353T>A) c.734T>A c.*92T>A (n.*92T>A) c.1623T>A (p.Val541=) c.510T>A (p.Val170=) c.1605T>A (p.Val535=) c.1320T>A (p.Val440=) c.102T>A (p.Val34=) n.472T>A | gnomAD v4 |
17 | g.63486670T>C | CA501184454 | ACE | c.2172T>C (p.Val724=) c.450T>C (p.Val150=) c.*242T>C (n.*242T>C) c.353T>C (n.353T>C) c.734T>C c.*92T>C (n.*92T>C) c.1623T>C (p.Val541=) c.510T>C (p.Val170=) c.1605T>C (p.Val535=) c.1320T>C (p.Val440=) c.102T>C (p.Val34=) n.472T>C | |
17 | g.63486670T>G | CA501184456 | ACE | c.2172T>G (p.Val724=) c.450T>G (p.Val150=) c.*242T>G (n.*242T>G) c.353T>G (n.353T>G) c.734T>G c.*92T>G (n.*92T>G) c.1623T>G (p.Val541=) c.510T>G (p.Val170=) c.1605T>G (p.Val535=) c.1320T>G (p.Val440=) c.102T>G (p.Val34=) n.472T>G | |
17 | g.63486671C>A | CA400556208 | ACE | c.2173C>A (p.Gln725Lys) c.451C>A (p.Gln151Lys) c.*243C>A (n.*243C>A) c.354C>A (n.354C>A) c.735C>A c.*93C>A (n.*93C>A) c.1624C>A (p.Gln542Lys) c.511C>A (p.Gln171Lys) c.1606C>A (p.Gln536Lys) c.1321C>A (p.Gln441Lys) c.103C>A (p.Gln35Lys) n.473C>A | |
17 | g.63486671C= | CA2269944873 | ACE | c.2173C= (p.Gln725=) c.451C= (p.Gln151=) c.*243C= (n.*243C=) c.354C= (n.354C=) c.735C= c.*93C= (n.*93C=) c.1624C= (p.Gln542=) c.511C= (p.Gln171=) c.1606C= (p.Gln536=) c.1321C= (p.Gln441=) c.103C= (p.Gln35=) n.473C= | |
17 | g.63486671C>G | CA8699952 | ACE | c.2173C>G (p.Gln725Glu) c.451C>G (p.Gln151Glu) c.*243C>G (n.*243C>G) c.354C>G (n.354C>G) c.735C>G c.*93C>G (n.*93C>G) c.1624C>G (p.Gln542Glu) c.511C>G (p.Gln171Glu) c.1606C>G (p.Gln536Glu) c.1321C>G (p.Gln441Glu) c.103C>G (p.Gln35Glu) n.473C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486671C>T | CA400556212 | ACE | c.2173C>T (p.Gln725Ter) c.451C>T (p.Gln151Ter) c.*243C>T (n.*243C>T) c.354C>T (n.354C>T) c.735C>T c.*93C>T (n.*93C>T) c.1624C>T (p.Gln542Ter) c.511C>T (p.Gln171Ter) c.1606C>T (p.Gln536Ter) c.1321C>T (p.Gln441Ter) c.103C>T (p.Gln35Ter) n.473C>T | ClinVar dbSNP gnomAD v4 |
17 | g.63486672A>C | CA400556215 | ACE | c.2174A>C (p.Gln725Pro) c.452A>C (p.Gln151Pro) c.*244A>C (n.*244A>C) c.355A>C (n.355A>C) c.736A>C c.*94A>C (n.*94A>C) c.1625A>C (p.Gln542Pro) c.512A>C (p.Gln171Pro) c.1607A>C (p.Gln536Pro) c.1322A>C (p.Gln441Pro) c.104A>C (p.Gln35Pro) n.474A>C | |
17 | g.63486672A>G | CA400556219 | ACE | c.2174A>G (p.Gln725Arg) c.452A>G (p.Gln151Arg) c.*244A>G (n.*244A>G) c.355A>G (n.355A>G) c.736A>G c.*94A>G (n.*94A>G) c.1625A>G (p.Gln542Arg) c.512A>G (p.Gln171Arg) c.1607A>G (p.Gln536Arg) c.1322A>G (p.Gln441Arg) c.104A>G (p.Gln35Arg) n.474A>G | gnomAD v4 |
17 | g.63486672A>T | CA400556217 | ACE | c.2174A>T (p.Gln725Leu) c.452A>T (p.Gln151Leu) c.*244A>T (n.*244A>T) c.355A>T (n.355A>T) c.736A>T c.*94A>T (n.*94A>T) c.1625A>T (p.Gln542Leu) c.512A>T (p.Gln171Leu) c.1607A>T (p.Gln536Leu) c.1322A>T (p.Gln441Leu) c.104A>T (p.Gln35Leu) n.474A>T | |
17 | g.63486673G>A | CA501184473 | ACE | c.2175G>A (p.Gln725=) c.453G>A (p.Gln151=) c.*245G>A (n.*245G>A) c.356G>A (n.356G>A) c.737G>A c.*95G>A (n.*95G>A) c.1626G>A (p.Gln542=) c.513G>A (p.Gln171=) c.1608G>A (p.Gln536=) c.1323G>A (p.Gln441=) c.105G>A (p.Gln35=) n.475G>A | |
17 | g.63486673G>C | CA400556222 | ACE | c.2175G>C (p.Gln725His) c.453G>C (p.Gln151His) c.*245G>C (n.*245G>C) c.356G>C (n.356G>C) c.737G>C c.*95G>C (n.*95G>C) c.1626G>C (p.Gln542His) c.513G>C (p.Gln171His) c.1608G>C (p.Gln536His) c.1323G>C (p.Gln441His) c.105G>C (p.Gln35His) n.475G>C | |
17 | g.63486673G= | CA2269944874 | ACE | c.2175G= (p.Gln725=) c.453G= (p.Gln151=) c.*245G= (n.*245G=) c.356G= (n.356G=) c.737G= c.*95G= (n.*95G=) c.1626G= (p.Gln542=) c.513G= (p.Gln171=) c.1608G= (p.Gln536=) c.1323G= (p.Gln441=) c.105G= (p.Gln35=) n.475G= | |
17 | g.63486673G>T | CA400556225 | ACE | c.2175G>T (p.Gln725His) c.453G>T (p.Gln151His) c.*245G>T (n.*245G>T) c.356G>T (n.356G>T) c.737G>T c.*95G>T (n.*95G>T) c.1626G>T (p.Gln542His) c.513G>T (p.Gln171His) c.1608G>T (p.Gln536His) c.1323G>T (p.Gln441His) c.105G>T (p.Gln35His) n.475G>T | dbSNP gnomAD v4 |
17 | g.63486674G>A | CA400556228 | ACE | c.2176G>A (p.Asp726Asn) c.454G>A (p.Asp152Asn) c.*246G>A (n.*246G>A) c.357G>A (n.357G>A) c.738G>A c.*96G>A (n.*96G>A) c.1627G>A (p.Asp543Asn) c.514G>A (p.Asp172Asn) c.1609G>A (p.Asp537Asn) c.1324G>A (p.Asp442Asn) c.106G>A (p.Asp36Asn) n.476G>A | COSMIC COSMIC COSMIC |
17 | g.63486674G>C | CA400556230 | ACE | c.2176G>C (p.Asp726His) c.454G>C (p.Asp152His) c.*246G>C (n.*246G>C) c.357G>C (n.357G>C) c.738G>C c.*96G>C (n.*96G>C) c.1627G>C (p.Asp543His) c.514G>C (p.Asp172His) c.1609G>C (p.Asp537His) c.1324G>C (p.Asp442His) c.106G>C (p.Asp36His) n.476G>C | |
17 | g.63486674G>T | CA400556232 | ACE | c.2176G>T (p.Asp726Tyr) c.454G>T (p.Asp152Tyr) c.*246G>T (n.*246G>T) c.357G>T (n.357G>T) c.738G>T c.*96G>T (n.*96G>T) c.1627G>T (p.Asp543Tyr) c.514G>T (p.Asp172Tyr) c.1609G>T (p.Asp537Tyr) c.1324G>T (p.Asp442Tyr) c.106G>T (p.Asp36Tyr) n.476G>T | |
17 | g.63486675A= | CA2269944875 | ACE | c.2177A= (p.Asp726=) c.455A= (p.Asp152=) c.*247A= (n.*247A=) c.358A= (n.358A=) c.739A= c.*97A= (n.*97A=) c.1628A= (p.Asp543=) c.515A= (p.Asp172=) c.1610A= (p.Asp537=) c.1325A= (p.Asp442=) c.107A= (p.Asp36=) n.477A= | |
17 | g.63486675A>C | CA400556235 | ACE | c.2177A>C (p.Asp726Ala) c.455A>C (p.Asp152Ala) c.*247A>C (n.*247A>C) c.358A>C (n.358A>C) c.739A>C c.*97A>C (n.*97A>C) c.1628A>C (p.Asp543Ala) c.515A>C (p.Asp172Ala) c.1610A>C (p.Asp537Ala) c.1325A>C (p.Asp442Ala) c.107A>C (p.Asp36Ala) n.477A>C | |
17 | g.63486675A>G | CA400556237 | ACE | c.2177A>G (p.Asp726Gly) c.455A>G (p.Asp152Gly) c.*247A>G (n.*247A>G) c.358A>G (n.358A>G) c.739A>G c.*97A>G (n.*97A>G) c.1628A>G (p.Asp543Gly) c.515A>G (p.Asp172Gly) c.1610A>G (p.Asp537Gly) c.1325A>G (p.Asp442Gly) c.107A>G (p.Asp36Gly) n.477A>G | |
17 | g.63486675A>T | CA400556239 | ACE | c.2177A>T (p.Asp726Val) c.455A>T (p.Asp152Val) c.*247A>T (n.*247A>T) c.358A>T (n.358A>T) c.739A>T c.*97A>T (n.*97A>T) c.1628A>T (p.Asp543Val) c.515A>T (p.Asp172Val) c.1610A>T (p.Asp537Val) c.1325A>T (p.Asp442Val) c.107A>T (p.Asp36Val) n.477A>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63486676C>A | CA400556242 | ACE | c.2178C>A (p.Asp726Glu) c.456C>A (p.Asp152Glu) c.*248C>A (n.*248C>A) c.359C>A (n.359C>A) c.740C>A c.*98C>A (n.*98C>A) c.1629C>A (p.Asp543Glu) c.516C>A (p.Asp172Glu) c.1611C>A (p.Asp537Glu) c.1326C>A (p.Asp442Glu) c.108C>A (p.Asp36Glu) n.478C>A | |
17 | g.63486676C= | CA2269944876 | ACE | c.2178C= (p.Asp726=) c.456C= (p.Asp152=) c.*248C= (n.*248C=) c.359C= (n.359C=) c.740C= c.*98C= (n.*98C=) c.1629C= (p.Asp543=) c.516C= (p.Asp172=) c.1611C= (p.Asp537=) c.1326C= (p.Asp442=) c.108C= (p.Asp36=) n.478C= | |
17 | g.63486676C>G | CA400556245 | ACE | c.2178C>G (p.Asp726Glu) c.456C>G (p.Asp152Glu) c.*248C>G (n.*248C>G) c.359C>G (n.359C>G) c.740C>G c.*98C>G (n.*98C>G) c.1629C>G (p.Asp543Glu) c.516C>G (p.Asp172Glu) c.1611C>G (p.Asp537Glu) c.1326C>G (p.Asp442Glu) c.108C>G (p.Asp36Glu) n.478C>G | |
17 | g.63486676C>T | CA292881525 | ACE | c.2178C>T (p.Asp726=) c.456C>T (p.Asp152=) c.*248C>T (n.*248C>T) c.359C>T (n.359C>T) c.740C>T c.*98C>T (n.*98C>T) c.1629C>T (p.Asp543=) c.516C>T (p.Asp172=) c.1611C>T (p.Asp537=) c.1326C>T (p.Asp442=) c.108C>T (p.Asp36=) n.478C>T | dbSNP gnomAD v4 |
17 | g.63486677C>A | CA400556248 | ACE | c.2179C>A (p.Leu727Ile) c.457C>A (p.Leu153Ile) c.*249C>A (n.*249C>A) c.360C>A (n.360C>A) c.741C>A c.*99C>A (n.*99C>A) c.1630C>A (p.Leu544Ile) c.517C>A (p.Leu173Ile) c.1612C>A (p.Leu538Ile) c.1327C>A (p.Leu443Ile) c.109C>A (p.Leu37Ile) n.479C>A | |
17 | g.63486677C>G | CA400556251 | ACE | c.2179C>G (p.Leu727Val) c.457C>G (p.Leu153Val) c.*249C>G (n.*249C>G) c.360C>G (n.360C>G) c.741C>G c.*99C>G (n.*99C>G) c.1630C>G (p.Leu544Val) c.517C>G (p.Leu173Val) c.1612C>G (p.Leu538Val) c.1327C>G (p.Leu443Val) c.109C>G (p.Leu37Val) n.479C>G | gnomAD v4 |
17 | g.63486677C>T | CA501184489 | ACE | c.2179C>T (p.Leu727=) c.457C>T (p.Leu153=) c.*249C>T (n.*249C>T) c.360C>T (n.360C>T) c.741C>T c.*99C>T (n.*99C>T) c.1630C>T (p.Leu544=) c.517C>T (p.Leu173=) c.1612C>T (p.Leu538=) c.1327C>T (p.Leu443=) c.109C>T (p.Leu37=) n.479C>T | |
17 | g.63486678T>A | CA400556253 | ACE | c.2180T>A (p.Leu727Gln) c.458T>A (p.Leu153Gln) c.*250T>A (n.*250T>A) c.361T>A (n.361T>A) c.742T>A c.*100T>A (n.*100T>A) c.1631T>A (p.Leu544Gln) c.518T>A (p.Leu173Gln) c.1613T>A (p.Leu538Gln) c.1328T>A (p.Leu443Gln) c.110T>A (p.Leu37Gln) n.480T>A | |
17 | g.63486678T>C | CA400556255 | ACE | c.2180T>C (p.Leu727Pro) c.458T>C (p.Leu153Pro) c.*250T>C (n.*250T>C) c.361T>C (n.361T>C) c.742T>C c.*100T>C (n.*100T>C) c.1631T>C (p.Leu544Pro) c.518T>C (p.Leu173Pro) c.1613T>C (p.Leu538Pro) c.1328T>C (p.Leu443Pro) c.110T>C (p.Leu37Pro) n.480T>C | |
17 | g.63486678T>G | CA400556257 | ACE | c.2180T>G (p.Leu727Arg) c.458T>G (p.Leu153Arg) c.*250T>G (n.*250T>G) c.361T>G (n.361T>G) c.742T>G c.*100T>G (n.*100T>G) c.1631T>G (p.Leu544Arg) c.518T>G (p.Leu173Arg) c.1613T>G (p.Leu538Arg) c.1328T>G (p.Leu443Arg) c.110T>G (p.Leu37Arg) n.480T>G | dbSNP |
17 | g.63486678T= | CA2269944877 | ACE | c.2180T= (p.Leu727=) c.458T= (p.Leu153=) c.*250T= (n.*250T=) c.361T= (n.361T=) c.742T= c.*100T= (n.*100T=) c.1631T= (p.Leu544=) c.518T= (p.Leu173=) c.1613T= (p.Leu538=) c.1328T= (p.Leu443=) c.110T= (p.Leu37=) n.480T= | |
17 | g.63486679A= | CA2269944878 | ACE | c.2181A= (p.Leu727=) c.459A= (p.Leu153=) c.*251A= (n.*251A=) c.362A= (n.362A=) c.743A= c.*101A= (n.*101A=) c.1632A= (p.Leu544=) c.519A= (p.Leu173=) c.1614A= (p.Leu538=) c.1329A= (p.Leu443=) c.111A= (p.Leu37=) n.481A= | |
17 | g.63486679A>C | CA501184496 | ACE | c.2181A>C (p.Leu727=) c.459A>C (p.Leu153=) c.*251A>C (n.*251A>C) c.362A>C (n.362A>C) c.743A>C c.*101A>C (n.*101A>C) c.1632A>C (p.Leu544=) c.519A>C (p.Leu173=) c.1614A>C (p.Leu538=) c.1329A>C (p.Leu443=) c.111A>C (p.Leu37=) n.481A>C | |
17 | g.63486679A>G | CA8699953 | ACE | c.2181A>G (p.Leu727=) c.459A>G (p.Leu153=) c.*251A>G (n.*251A>G) c.362A>G (n.362A>G) c.743A>G c.*101A>G (n.*101A>G) c.1632A>G (p.Leu544=) c.519A>G (p.Leu173=) c.1614A>G (p.Leu538=) c.1329A>G (p.Leu443=) c.111A>G (p.Leu37=) n.481A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486679A>T | CA501184493 | ACE | c.2181A>T (p.Leu727=) c.459A>T (p.Leu153=) c.*251A>T (n.*251A>T) c.362A>T (n.362A>T) c.743A>T c.*101A>T (n.*101A>T) c.1632A>T (p.Leu544=) c.519A>T (p.Leu173=) c.1614A>T (p.Leu538=) c.1329A>T (p.Leu443=) c.111A>T (p.Leu37=) n.481A>T | |
17 | g.63486680G>A | CA400556261 | ACE | c.2182G>A (p.Glu728Lys) c.460G>A (p.Glu154Lys) c.*252G>A (n.*252G>A) c.363G>A (n.363G>A) c.744G>A c.*102G>A (n.*102G>A) c.1633G>A (p.Glu545Lys) c.520G>A (p.Glu174Lys) c.1615G>A (p.Glu539Lys) c.1330G>A (p.Glu444Lys) c.112G>A (p.Glu38Lys) n.482G>A | |
17 | g.63486680G>C | CA400556264 | ACE | c.2182G>C (p.Glu728Gln) c.460G>C (p.Glu154Gln) c.*252G>C (n.*252G>C) c.363G>C (n.363G>C) c.744G>C c.*102G>C (n.*102G>C) c.1633G>C (p.Glu545Gln) c.520G>C (p.Glu174Gln) c.1615G>C (p.Glu539Gln) c.1330G>C (p.Glu444Gln) c.112G>C (p.Glu38Gln) n.482G>C | |
17 | g.63486680G>T | CA400556267 | ACE | c.2182G>T (p.Glu728Ter) c.460G>T (p.Glu154Ter) c.*252G>T (n.*252G>T) c.363G>T (n.363G>T) c.744G>T c.*102G>T (n.*102G>T) c.1633G>T (p.Glu545Ter) c.520G>T (p.Glu174Ter) c.1615G>T (p.Glu539Ter) c.1330G>T (p.Glu444Ter) c.112G>T (p.Glu38Ter) n.482G>T | |
17 | g.63486681_63486685del | CA2639263167 | ACE | c.2183_2187del (p.Glu728GlyfsTer?) c.461_465del (p.Glu154GlyfsTer?) c.*253_*257del (n.*253_*257del) c.364_368del (n.364_368del) c.745_749del c.*103_*107del (n.*103_*107del) c.1634_1638del (p.Glu545GlyfsTer?) c.521_525del (p.Glu174GlyfsTer?) c.1616_1620del (p.Glu539GlyfsTer?) c.1331_1335del (p.Glu444GlyfsTer?) c.113_117del (p.Glu38GlyfsTer?) n.483_487del | gnomAD v4 |
17 | g.63486681A>C | CA400556270 | ACE | c.2183A>C (p.Glu728Ala) c.461A>C (p.Glu154Ala) c.*253A>C (n.*253A>C) c.364A>C (n.364A>C) c.745A>C c.*103A>C (n.*103A>C) c.1634A>C (p.Glu545Ala) c.521A>C (p.Glu174Ala) c.1616A>C (p.Glu539Ala) c.1331A>C (p.Glu444Ala) c.113A>C (p.Glu38Ala) n.483A>C | |
17 | g.63486681A>G | CA400556273 | ACE | c.2183A>G (p.Glu728Gly) c.461A>G (p.Glu154Gly) c.*253A>G (n.*253A>G) c.364A>G (n.364A>G) c.745A>G c.*103A>G (n.*103A>G) c.1634A>G (p.Glu545Gly) c.521A>G (p.Glu174Gly) c.1616A>G (p.Glu539Gly) c.1331A>G (p.Glu444Gly) c.113A>G (p.Glu38Gly) n.483A>G | |
17 | g.63486681A>T | CA400556275 | ACE | c.2183A>T (p.Glu728Val) c.461A>T (p.Glu154Val) c.*253A>T (n.*253A>T) c.364A>T (n.364A>T) c.745A>T c.*103A>T (n.*103A>T) c.1634A>T (p.Glu545Val) c.521A>T (p.Glu174Val) c.1616A>T (p.Glu539Val) c.1331A>T (p.Glu444Val) c.113A>T (p.Glu38Val) n.483A>T | |
17 | g.63486682A>C | CA400556277 | ACE | c.2184A>C (p.Glu728Asp) c.462A>C (p.Glu154Asp) c.*254A>C (n.*254A>C) c.365A>C (n.365A>C) c.746A>C c.*104A>C (n.*104A>C) c.1635A>C (p.Glu545Asp) c.522A>C (p.Glu174Asp) c.1617A>C (p.Glu539Asp) c.1332A>C (p.Glu444Asp) c.114A>C (p.Glu38Asp) n.484A>C | |
17 | g.63486682A>G | CA501184508 | ACE | c.2184A>G (p.Glu728=) c.462A>G (p.Glu154=) c.*254A>G (n.*254A>G) c.365A>G (n.365A>G) c.746A>G c.*104A>G (n.*104A>G) c.1635A>G (p.Glu545=) c.522A>G (p.Glu174=) c.1617A>G (p.Glu539=) c.1332A>G (p.Glu444=) c.114A>G (p.Glu38=) n.484A>G | |
17 | g.63486682A>T | CA400556279 | ACE | c.2184A>T (p.Glu728Asp) c.462A>T (p.Glu154Asp) c.*254A>T (n.*254A>T) c.365A>T (n.365A>T) c.746A>T c.*104A>T (n.*104A>T) c.1635A>T (p.Glu545Asp) c.522A>T (p.Glu174Asp) c.1617A>T (p.Glu539Asp) c.1332A>T (p.Glu444Asp) c.114A>T (p.Glu38Asp) n.484A>T | |
17 | g.63486683C>A | CA501184512 | ACE | c.2185C>A (p.Arg729=) c.463C>A (p.Arg155=) c.*255C>A (n.*255C>A) c.366C>A (n.366C>A) c.747C>A c.*105C>A (n.*105C>A) c.1636C>A (p.Arg546=) c.523C>A (p.Arg175=) c.1618C>A (p.Arg540=) c.1333C>A (p.Arg445=) c.115C>A (p.Arg39=) n.485C>A | gnomAD v4 |
17 | g.63486683C= | CA2269944879 | ACE | c.2185C= (p.Arg729=) c.463C= (p.Arg155=) c.*255C= (n.*255C=) c.366C= (n.366C=) c.747C= c.*105C= (n.*105C=) c.1636C= (p.Arg546=) c.523C= (p.Arg175=) c.1618C= (p.Arg540=) c.1333C= (p.Arg445=) c.115C= (p.Arg39=) n.485C= | |
17 | g.63486683C>G | CA400556281 | ACE | c.2185C>G (p.Arg729Gly) c.463C>G (p.Arg155Gly) c.*255C>G (n.*255C>G) c.366C>G (n.366C>G) c.747C>G c.*105C>G (n.*105C>G) c.1636C>G (p.Arg546Gly) c.523C>G (p.Arg175Gly) c.1618C>G (p.Arg540Gly) c.1333C>G (p.Arg445Gly) c.115C>G (p.Arg39Gly) n.485C>G | |
17 | g.63486683C>T | CA8699954 | ACE | c.2185C>T (p.Arg729Trp) c.463C>T (p.Arg155Trp) c.*255C>T (n.*255C>T) c.366C>T (n.366C>T) c.747C>T c.*105C>T (n.*105C>T) c.1636C>T (p.Arg546Trp) c.523C>T (p.Arg175Trp) c.1618C>T (p.Arg540Trp) c.1333C>T (p.Arg445Trp) c.115C>T (p.Arg39Trp) n.485C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486684G>A | CA8699955 | ACE | c.2186G>A (p.Arg729Gln) c.464G>A (p.Arg155Gln) c.*256G>A (n.*256G>A) c.367G>A (n.367G>A) c.748G>A c.*106G>A (n.*106G>A) c.1637G>A (p.Arg546Gln) c.524G>A (p.Arg175Gln) c.1619G>A (p.Arg540Gln) c.1334G>A (p.Arg445Gln) c.116G>A (p.Arg39Gln) n.486G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486684G>C | CA400556286 | ACE | c.2186G>C (p.Arg729Pro) c.464G>C (p.Arg155Pro) c.*256G>C (n.*256G>C) c.367G>C (n.367G>C) c.748G>C c.*106G>C (n.*106G>C) c.1637G>C (p.Arg546Pro) c.524G>C (p.Arg175Pro) c.1619G>C (p.Arg540Pro) c.1334G>C (p.Arg445Pro) c.116G>C (p.Arg39Pro) n.486G>C | |
17 | g.63486684G= | CA2269944880 | ACE | c.2186G= (p.Arg729=) c.464G= (p.Arg155=) c.*256G= (n.*256G=) c.367G= (n.367G=) c.748G= c.*106G= (n.*106G=) c.1637G= (p.Arg546=) c.524G= (p.Arg175=) c.1619G= (p.Arg540=) c.1334G= (p.Arg445=) c.116G= (p.Arg39=) n.486G= | |
17 | g.63486684G>T | CA400556289 | ACE | c.2186G>T (p.Arg729Leu) c.464G>T (p.Arg155Leu) c.*256G>T (n.*256G>T) c.367G>T (n.367G>T) c.748G>T c.*106G>T (n.*106G>T) c.1637G>T (p.Arg546Leu) c.524G>T (p.Arg175Leu) c.1619G>T (p.Arg540Leu) c.1334G>T (p.Arg445Leu) c.116G>T (p.Arg39Leu) n.486G>T | |
17 | g.63486691_63486870del | CA2810114346 | ACE | c.2193_2218-116del c.471_496-116del c.*263_*288-116del c.374_399-116del c.755_780-116del c.*113_*138-116del c.1644_1669-116del c.531_556-116del c.1626_1651-116del c.1341_1366-116del c.123_148-116del n.493_518-116del | |
17 | g.63486685G>A | CA501184528 | ACE | c.2187G>A (p.Arg729=) c.465G>A (p.Arg155=) c.*257G>A (n.*257G>A) c.368G>A (n.368G>A) c.749G>A c.*107G>A (n.*107G>A) c.1638G>A (p.Arg546=) c.525G>A (p.Arg175=) c.1620G>A (p.Arg540=) c.1335G>A (p.Arg445=) c.117G>A (p.Arg39=) n.487G>A | |
17 | g.63486685G>C | CA501184524 | ACE | c.2187G>C (p.Arg729=) c.465G>C (p.Arg155=) c.*257G>C (n.*257G>C) c.368G>C (n.368G>C) c.749G>C c.*107G>C (n.*107G>C) c.1638G>C (p.Arg546=) c.525G>C (p.Arg175=) c.1620G>C (p.Arg540=) c.1335G>C (p.Arg445=) c.117G>C (p.Arg39=) n.487G>C | |
17 | g.63486685G= | CA2269944881 | ACE | c.2187G= (p.Arg729=) c.465G= (p.Arg155=) c.*257G= (n.*257G=) c.368G= (n.368G=) c.749G= c.*107G= (n.*107G=) c.1638G= (p.Arg546=) c.525G= (p.Arg175=) c.1620G= (p.Arg540=) c.1335G= (p.Arg445=) c.117G= (p.Arg39=) n.487G= | |
17 | g.63486685G>T | CA8699956 | ACE | c.2187G>T (p.Arg729=) c.465G>T (p.Arg155=) c.*257G>T (n.*257G>T) c.368G>T (n.368G>T) c.749G>T c.*107G>T (n.*107G>T) c.1638G>T (p.Arg546=) c.525G>T (p.Arg175=) c.1620G>T (p.Arg540=) c.1335G>T (p.Arg445=) c.117G>T (p.Arg39=) n.487G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486686G>A | CA400556298 | ACE | c.2188G>A (p.Ala730Thr) c.466G>A (p.Ala156Thr) c.*258G>A (n.*258G>A) c.369G>A (n.369G>A) c.750G>A c.*108G>A (n.*108G>A) c.1639G>A (p.Ala547Thr) c.526G>A (p.Ala176Thr) c.1621G>A (p.Ala541Thr) c.1336G>A (p.Ala446Thr) c.118G>A (p.Ala40Thr) n.488G>A | |
17 | g.63486686G>C | CA400556294 | ACE | c.2188G>C (p.Ala730Pro) c.466G>C (p.Ala156Pro) c.*258G>C (n.*258G>C) c.369G>C (n.369G>C) c.750G>C c.*108G>C (n.*108G>C) c.1639G>C (p.Ala547Pro) c.526G>C (p.Ala176Pro) c.1621G>C (p.Ala541Pro) c.1336G>C (p.Ala446Pro) c.118G>C (p.Ala40Pro) n.488G>C | |
17 | g.63486686G= | CA2269944882 | ACE | c.2188G= (p.Ala730=) c.466G= (p.Ala156=) c.*258G= (n.*258G=) c.369G= (n.369G=) c.750G= c.*108G= (n.*108G=) c.1639G= (p.Ala547=) c.526G= (p.Ala176=) c.1621G= (p.Ala541=) c.1336G= (p.Ala446=) c.118G= (p.Ala40=) n.488G= | |
17 | g.63486686G>T | CA400556297 | ACE | c.2188G>T (p.Ala730Ser) c.466G>T (p.Ala156Ser) c.*258G>T (n.*258G>T) c.369G>T (n.369G>T) c.750G>T c.*108G>T (n.*108G>T) c.1639G>T (p.Ala547Ser) c.526G>T (p.Ala176Ser) c.1621G>T (p.Ala541Ser) c.1336G>T (p.Ala446Ser) c.118G>T (p.Ala40Ser) n.488G>T | dbSNP |
17 | g.63486687C>A | CA8699957 | ACE | c.2189C>A (p.Ala730Glu) c.467C>A (p.Ala156Glu) c.*259C>A (n.*259C>A) c.370C>A (n.370C>A) c.751C>A c.*109C>A (n.*109C>A) c.1640C>A (p.Ala547Glu) c.527C>A (p.Ala176Glu) c.1622C>A (p.Ala541Glu) c.1337C>A (p.Ala446Glu) c.119C>A (p.Ala40Glu) n.489C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486687C= | CA2269944883 | ACE | c.2189C= (p.Ala730=) c.467C= (p.Ala156=) c.*259C= (n.*259C=) c.370C= (n.370C=) c.751C= c.*109C= (n.*109C=) c.1640C= (p.Ala547=) c.527C= (p.Ala176=) c.1622C= (p.Ala541=) c.1337C= (p.Ala446=) c.119C= (p.Ala40=) n.489C= | |
17 | g.63486687C>G | CA400556304 | ACE | c.2189C>G (p.Ala730Gly) c.467C>G (p.Ala156Gly) c.*259C>G (n.*259C>G) c.370C>G (n.370C>G) c.751C>G c.*109C>G (n.*109C>G) c.1640C>G (p.Ala547Gly) c.527C>G (p.Ala176Gly) c.1622C>G (p.Ala541Gly) c.1337C>G (p.Ala446Gly) c.119C>G (p.Ala40Gly) n.489C>G | |
17 | g.63486687C>T | CA400556306 | ACE | c.2189C>T (p.Ala730Val) c.467C>T (p.Ala156Val) c.*259C>T (n.*259C>T) c.370C>T (n.370C>T) c.751C>T c.*109C>T (n.*109C>T) c.1640C>T (p.Ala547Val) c.527C>T (p.Ala176Val) c.1622C>T (p.Ala541Val) c.1337C>T (p.Ala446Val) c.119C>T (p.Ala40Val) n.489C>T | |
17 | g.63486688A>C | CA501184542 | ACE | c.2190A>C (p.Ala730=) c.468A>C (p.Ala156=) c.*260A>C (n.*260A>C) c.371A>C (n.371A>C) c.752A>C c.*110A>C (n.*110A>C) c.1641A>C (p.Ala547=) c.528A>C (p.Ala176=) c.1623A>C (p.Ala541=) c.1338A>C (p.Ala446=) c.120A>C (p.Ala40=) n.490A>C | |
17 | g.63486688A>G | CA501184546 | ACE | c.2190A>G (p.Ala730=) c.468A>G (p.Ala156=) c.*260A>G (n.*260A>G) c.371A>G (n.371A>G) c.752A>G c.*110A>G (n.*110A>G) c.1641A>G (p.Ala547=) c.528A>G (p.Ala176=) c.1623A>G (p.Ala541=) c.1338A>G (p.Ala446=) c.120A>G (p.Ala40=) n.490A>G | |
17 | g.63486688A>T | CA501184548 | ACE | c.2190A>T (p.Ala730=) c.468A>T (p.Ala156=) c.*260A>T (n.*260A>T) c.371A>T (n.371A>T) c.752A>T c.*110A>T (n.*110A>T) c.1641A>T (p.Ala547=) c.528A>T (p.Ala176=) c.1623A>T (p.Ala541=) c.1338A>T (p.Ala446=) c.120A>T (p.Ala40=) n.490A>T | |
17 | g.63486689G>A | CA400556314 | ACE | c.2191G>A (p.Ala731Thr) c.469G>A (p.Ala157Thr) c.*261G>A (n.*261G>A) c.372G>A (n.372G>A) c.753G>A c.*111G>A (n.*111G>A) c.1642G>A (p.Ala548Thr) c.529G>A (p.Ala177Thr) c.1624G>A (p.Ala542Thr) c.1339G>A (p.Ala447Thr) c.121G>A (p.Ala41Thr) n.491G>A | |
17 | g.63486689G>C | CA400556312 | ACE | c.2191G>C (p.Ala731Pro) c.469G>C (p.Ala157Pro) c.*261G>C (n.*261G>C) c.372G>C (n.372G>C) c.753G>C c.*111G>C (n.*111G>C) c.1642G>C (p.Ala548Pro) c.529G>C (p.Ala177Pro) c.1624G>C (p.Ala542Pro) c.1339G>C (p.Ala447Pro) c.121G>C (p.Ala41Pro) n.491G>C | |
17 | g.63486689G>T | CA400556310 | ACE | c.2191G>T (p.Ala731Ser) c.469G>T (p.Ala157Ser) c.*261G>T (n.*261G>T) c.372G>T (n.372G>T) c.753G>T c.*111G>T (n.*111G>T) c.1642G>T (p.Ala548Ser) c.529G>T (p.Ala177Ser) c.1624G>T (p.Ala542Ser) c.1339G>T (p.Ala447Ser) c.121G>T (p.Ala41Ser) n.491G>T | |
17 | g.63486690C>A | CA400556317 | ACE | c.2192C>A (p.Ala731Glu) c.470C>A (p.Ala157Glu) c.*262C>A (n.*262C>A) c.373C>A (n.373C>A) c.754C>A c.*112C>A (n.*112C>A) c.1643C>A (p.Ala548Glu) c.530C>A (p.Ala177Glu) c.1625C>A (p.Ala542Glu) c.1340C>A (p.Ala447Glu) c.122C>A (p.Ala41Glu) n.492C>A | |
17 | g.63486690C= | CA2269944884 | ACE | c.2192C= (p.Ala731=) c.470C= (p.Ala157=) c.*262C= (n.*262C=) c.373C= (n.373C=) c.754C= c.*112C= (n.*112C=) c.1643C= (p.Ala548=) c.530C= (p.Ala177=) c.1625C= (p.Ala542=) c.1340C= (p.Ala447=) c.122C= (p.Ala41=) n.492C= | |
17 | g.63486690C>G | CA400556319 | ACE | c.2192C>G (p.Ala731Gly) c.470C>G (p.Ala157Gly) c.*262C>G (n.*262C>G) c.373C>G (n.373C>G) c.754C>G c.*112C>G (n.*112C>G) c.1643C>G (p.Ala548Gly) c.530C>G (p.Ala177Gly) c.1625C>G (p.Ala542Gly) c.1340C>G (p.Ala447Gly) c.122C>G (p.Ala41Gly) n.492C>G | |
17 | g.63486690C>T | CA400556321 | ACE | c.2192C>T (p.Ala731Val) c.470C>T (p.Ala157Val) c.*262C>T (n.*262C>T) c.373C>T (n.373C>T) c.754C>T c.*112C>T (n.*112C>T) c.1643C>T (p.Ala548Val) c.530C>T (p.Ala177Val) c.1625C>T (p.Ala542Val) c.1340C>T (p.Ala447Val) c.122C>T (p.Ala41Val) n.492C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486690_63486691delinsTG | CA891863073 | ACE | c.2192_2193delinsTG (p.Ala731Val) c.470_471delinsTG (p.Ala157Val) c.*262_*263delinsTG (n.*262_*263delinsTG) c.373_374delinsTG (n.373_374delinsTG) c.754_755delinsTG c.*112_*113delinsTG (n.*112_*113delinsTG) c.1643_1644delinsTG (p.Ala548Val) c.530_531delinsTG (p.Ala177Val) c.1625_1626delinsTG (p.Ala542Val) c.1340_1341delinsTG (p.Ala447Val) c.122_123delinsTG (p.Ala41Val) n.492_493delinsTG | ClinVar |
17 | g.63486691A= | CA2269944885 | ACE | c.2193A= (p.Ala731=) c.471A= (p.Ala157=) c.*263A= (n.*263A=) c.374A= (n.374A=) c.755A= c.*113A= (n.*113A=) c.1644A= (p.Ala548=) c.531A= (p.Ala177=) c.1626A= (p.Ala542=) c.1341A= (p.Ala447=) c.123A= (p.Ala41=) n.493A= | |
17 | g.63486691A>C | CA501184563 | ACE | c.2193A>C (p.Ala731=) c.471A>C (p.Ala157=) c.*263A>C (n.*263A>C) c.374A>C (n.374A>C) c.755A>C c.*113A>C (n.*113A>C) c.1644A>C (p.Ala548=) c.531A>C (p.Ala177=) c.1626A>C (p.Ala542=) c.1341A>C (p.Ala447=) c.123A>C (p.Ala41=) n.493A>C | dbSNP |
17 | g.63486691A>G | CA8699958 | ACE | c.2193A>G (p.Ala731=) c.471A>G (p.Ala157=) c.*263A>G (n.*263A>G) c.374A>G (n.374A>G) c.755A>G c.*113A>G (n.*113A>G) c.1644A>G (p.Ala548=) c.531A>G (p.Ala177=) c.1626A>G (p.Ala542=) c.1341A>G (p.Ala447=) c.123A>G (p.Ala41=) n.493A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486691A>T | CA501184567 | ACE | c.2193A>T (p.Ala731=) c.471A>T (p.Ala157=) c.*263A>T (n.*263A>T) c.374A>T (n.374A>T) c.755A>T c.*113A>T (n.*113A>T) c.1644A>T (p.Ala548=) c.531A>T (p.Ala177=) c.1626A>T (p.Ala542=) c.1341A>T (p.Ala447=) c.123A>T (p.Ala41=) n.493A>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63486692C>A | CA400556326 | ACE | c.2194C>A (p.Leu732Met) c.472C>A (p.Leu158Met) c.*264C>A (n.*264C>A) c.375C>A (n.375C>A) c.756C>A c.*114C>A (n.*114C>A) c.1645C>A (p.Leu549Met) c.532C>A (p.Leu178Met) c.1627C>A (p.Leu543Met) c.1342C>A (p.Leu448Met) c.124C>A (p.Leu42Met) n.494C>A | |
17 | g.63486692C= | CA2269944886 | ACE | c.2194C= (p.Leu732=) c.472C= (p.Leu158=) c.*264C= (n.*264C=) c.375C= (n.375C=) c.756C= c.*114C= (n.*114C=) c.1645C= (p.Leu549=) c.532C= (p.Leu178=) c.1627C= (p.Leu543=) c.1342C= (p.Leu448=) c.124C= (p.Leu42=) n.494C= | |
17 | g.63486692C>G | CA400556328 | ACE | c.2194C>G (p.Leu732Val) c.472C>G (p.Leu158Val) c.*264C>G (n.*264C>G) c.375C>G (n.375C>G) c.756C>G c.*114C>G (n.*114C>G) c.1645C>G (p.Leu549Val) c.532C>G (p.Leu178Val) c.1627C>G (p.Leu543Val) c.1342C>G (p.Leu448Val) c.124C>G (p.Leu42Val) n.494C>G | |
17 | g.63486692C>T | CA501184578 | ACE | c.2194C>T (p.Leu732=) c.472C>T (p.Leu158=) c.*264C>T (n.*264C>T) c.375C>T (n.375C>T) c.756C>T c.*114C>T (n.*114C>T) c.1645C>T (p.Leu549=) c.532C>T (p.Leu178=) c.1627C>T (p.Leu543=) c.1342C>T (p.Leu448=) c.124C>T (p.Leu42=) n.494C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63486693T>A | CA400556331 | ACE | c.2195T>A (p.Leu732Gln) c.473T>A (p.Leu158Gln) c.*265T>A (n.*265T>A) c.376T>A (n.376T>A) c.757T>A c.*115T>A (n.*115T>A) c.1646T>A (p.Leu549Gln) c.533T>A (p.Leu178Gln) c.1628T>A (p.Leu543Gln) c.1343T>A (p.Leu448Gln) c.125T>A (p.Leu42Gln) n.495T>A | |
17 | g.63486693T>C | CA400556335 | ACE | c.2195T>C (p.Leu732Pro) c.473T>C (p.Leu158Pro) c.*265T>C (n.*265T>C) c.376T>C (n.376T>C) c.757T>C c.*115T>C (n.*115T>C) c.1646T>C (p.Leu549Pro) c.533T>C (p.Leu178Pro) c.1628T>C (p.Leu543Pro) c.1343T>C (p.Leu448Pro) c.125T>C (p.Leu42Pro) n.495T>C | |
17 | g.63486693T>G | CA400556333 | ACE | c.2195T>G (p.Leu732Arg) c.473T>G (p.Leu158Arg) c.*265T>G (n.*265T>G) c.376T>G (n.376T>G) c.757T>G c.*115T>G (n.*115T>G) c.1646T>G (p.Leu549Arg) c.533T>G (p.Leu178Arg) c.1628T>G (p.Leu543Arg) c.1343T>G (p.Leu448Arg) c.125T>G (p.Leu42Arg) n.495T>G | |
17 | g.63486694G>A | CA501184583 | ACE | c.2196G>A (p.Leu732=) c.474G>A (p.Leu158=) c.*266G>A (n.*266G>A) c.377G>A (n.377G>A) c.758G>A c.*116G>A (n.*116G>A) c.1647G>A (p.Leu549=) c.534G>A (p.Leu178=) c.1629G>A (p.Leu543=) c.1344G>A (p.Leu448=) c.126G>A (p.Leu42=) n.496G>A | gnomAD v4 |
17 | g.63486694G>C | CA8699959 | ACE | c.2196G>C (p.Leu732=) c.474G>C (p.Leu158=) c.*266G>C (n.*266G>C) c.377G>C (n.377G>C) c.758G>C c.*116G>C (n.*116G>C) c.1647G>C (p.Leu549=) c.534G>C (p.Leu178=) c.1629G>C (p.Leu543=) c.1344G>C (p.Leu448=) c.126G>C (p.Leu42=) n.496G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486694G= | CA2269944887 | ACE | c.2196G= (p.Leu732=) c.474G= (p.Leu158=) c.*266G= (n.*266G=) c.377G= (n.377G=) c.758G= c.*116G= (n.*116G=) c.1647G= (p.Leu549=) c.534G= (p.Leu178=) c.1629G= (p.Leu543=) c.1344G= (p.Leu448=) c.126G= (p.Leu42=) n.496G= | |
17 | g.63486694G>T | CA501184586 | ACE | c.2196G>T (p.Leu732=) c.474G>T (p.Leu158=) c.*266G>T (n.*266G>T) c.377G>T (n.377G>T) c.758G>T c.*116G>T (n.*116G>T) c.1647G>T (p.Leu549=) c.534G>T (p.Leu178=) c.1629G>T (p.Leu543=) c.1344G>T (p.Leu448=) c.126G>T (p.Leu42=) n.496G>T | |
17 | g.63486695C>A | CA400556340 | ACE | c.2197C>A (p.Pro733Thr) c.475C>A (p.Pro159Thr) c.*267C>A (n.*267C>A) c.378C>A (n.378C>A) c.759C>A c.*117C>A (n.*117C>A) c.1648C>A (p.Pro550Thr) c.535C>A (p.Pro179Thr) c.1630C>A (p.Pro544Thr) c.1345C>A (p.Pro449Thr) c.127C>A (p.Pro43Thr) n.497C>A | |
17 | g.63486695C>G | CA400556342 | ACE | c.2197C>G (p.Pro733Ala) c.475C>G (p.Pro159Ala) c.*267C>G (n.*267C>G) c.378C>G (n.378C>G) c.759C>G c.*117C>G (n.*117C>G) c.1648C>G (p.Pro550Ala) c.535C>G (p.Pro179Ala) c.1630C>G (p.Pro544Ala) c.1345C>G (p.Pro449Ala) c.127C>G (p.Pro43Ala) n.497C>G | |
17 | g.63486695C>T | CA400556345 | ACE | c.2197C>T (p.Pro733Ser) c.475C>T (p.Pro159Ser) c.*267C>T (n.*267C>T) c.378C>T (n.378C>T) c.759C>T c.*117C>T (n.*117C>T) c.1648C>T (p.Pro550Ser) c.535C>T (p.Pro179Ser) c.1630C>T (p.Pro544Ser) c.1345C>T (p.Pro449Ser) c.127C>T (p.Pro43Ser) n.497C>T | |
17 | g.63486696C>A | CA400556348 | ACE | c.2198C>A (p.Pro733His) c.476C>A (p.Pro159His) c.*268C>A (n.*268C>A) c.379C>A (n.379C>A) c.760C>A c.*118C>A (n.*118C>A) c.1649C>A (p.Pro550His) c.536C>A (p.Pro179His) c.1631C>A (p.Pro544His) c.1346C>A (p.Pro449His) c.128C>A (p.Pro43His) n.498C>A | |
17 | g.63486696C= | CA2269944888 | ACE | c.2198C= (p.Pro733=) c.476C= (p.Pro159=) c.*268C= (n.*268C=) c.379C= (n.379C=) c.760C= c.*118C= (n.*118C=) c.1649C= (p.Pro550=) c.536C= (p.Pro179=) c.1631C= (p.Pro544=) c.1346C= (p.Pro449=) c.128C= (p.Pro43=) n.498C= | |
17 | g.63486696C>G | CA400556350 | ACE | c.2198C>G (p.Pro733Arg) c.476C>G (p.Pro159Arg) c.*268C>G (n.*268C>G) c.379C>G (n.379C>G) c.760C>G c.*118C>G (n.*118C>G) c.1649C>G (p.Pro550Arg) c.536C>G (p.Pro179Arg) c.1631C>G (p.Pro544Arg) c.1346C>G (p.Pro449Arg) c.128C>G (p.Pro43Arg) n.498C>G | |
17 | g.63486696C>T | CA400556352 | ACE | c.2198C>T (p.Pro733Leu) c.476C>T (p.Pro159Leu) c.*268C>T (n.*268C>T) c.379C>T (n.379C>T) c.760C>T c.*118C>T (n.*118C>T) c.1649C>T (p.Pro550Leu) c.536C>T (p.Pro179Leu) c.1631C>T (p.Pro544Leu) c.1346C>T (p.Pro449Leu) c.128C>T (p.Pro43Leu) n.498C>T | dbSNP gnomAD v4 |
17 | g.63486697T>A | CA501184599 | ACE | c.2199T>A (p.Pro733=) c.477T>A (p.Pro159=) c.*269T>A (n.*269T>A) c.380T>A (n.380T>A) c.761T>A c.*119T>A (n.*119T>A) c.1650T>A (p.Pro550=) c.537T>A (p.Pro179=) c.1632T>A (p.Pro544=) c.1347T>A (p.Pro449=) c.129T>A (p.Pro43=) n.499T>A | |
17 | g.63486697T>C | CA501184601 | ACE | c.2199T>C (p.Pro733=) c.477T>C (p.Pro159=) c.*269T>C (n.*269T>C) c.380T>C (n.380T>C) c.761T>C c.*119T>C (n.*119T>C) c.1650T>C (p.Pro550=) c.537T>C (p.Pro179=) c.1632T>C (p.Pro544=) c.1347T>C (p.Pro449=) c.129T>C (p.Pro43=) n.499T>C | gnomAD v4 |
17 | g.63486697T>G | CA501184602 | ACE | c.2199T>G (p.Pro733=) c.477T>G (p.Pro159=) c.*269T>G (n.*269T>G) c.380T>G (n.380T>G) c.761T>G c.*119T>G (n.*119T>G) c.1650T>G (p.Pro550=) c.537T>G (p.Pro179=) c.1632T>G (p.Pro544=) c.1347T>G (p.Pro449=) c.129T>G (p.Pro43=) n.499T>G | dbSNP |
17 | g.63486698G>A | CA400556354 | ACE | c.2200G>A (p.Ala734Thr) c.478G>A (p.Ala160Thr) c.*270G>A (n.*270G>A) c.381G>A (n.381G>A) c.762G>A c.*120G>A (n.*120G>A) c.1651G>A (p.Ala551Thr) c.538G>A (p.Ala180Thr) c.1633G>A (p.Ala545Thr) c.1348G>A (p.Ala450Thr) c.130G>A (p.Ala44Thr) n.500G>A | |
17 | g.63486698G>C | CA400556355 | ACE | c.2200G>C (p.Ala734Pro) c.478G>C (p.Ala160Pro) c.*270G>C (n.*270G>C) c.381G>C (n.381G>C) c.762G>C c.*120G>C (n.*120G>C) c.1651G>C (p.Ala551Pro) c.538G>C (p.Ala180Pro) c.1633G>C (p.Ala545Pro) c.1348G>C (p.Ala450Pro) c.130G>C (p.Ala44Pro) n.500G>C | |
17 | g.63486698G= | CA2269944889 | ACE | c.2200G= (p.Ala734=) c.478G= (p.Ala160=) c.*270G= (n.*270G=) c.381G= (n.381G=) c.762G= c.*120G= (n.*120G=) c.1651G= (p.Ala551=) c.538G= (p.Ala180=) c.1633G= (p.Ala545=) c.1348G= (p.Ala450=) c.130G= (p.Ala44=) n.500G= | |
17 | g.63486698G>T | CA8699960 | ACE | c.2200G>T (p.Ala734Ser) c.478G>T (p.Ala160Ser) c.*270G>T (n.*270G>T) c.381G>T (n.381G>T) c.762G>T c.*120G>T (n.*120G>T) c.1651G>T (p.Ala551Ser) c.538G>T (p.Ala180Ser) c.1633G>T (p.Ala545Ser) c.1348G>T (p.Ala450Ser) c.130G>T (p.Ala44Ser) n.500G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486699C>A | CA400556358 | ACE | c.2201C>A (p.Ala734Asp) c.479C>A (p.Ala160Asp) c.*271C>A (n.*271C>A) c.382C>A (n.382C>A) c.763C>A c.*121C>A (n.*121C>A) c.1652C>A (p.Ala551Asp) c.539C>A (p.Ala180Asp) c.1634C>A (p.Ala545Asp) c.1349C>A (p.Ala450Asp) c.131C>A (p.Ala44Asp) n.501C>A | |
17 | g.63486699C>G | CA400556357 | ACE | c.2201C>G (p.Ala734Gly) c.479C>G (p.Ala160Gly) c.*271C>G (n.*271C>G) c.382C>G (n.382C>G) c.763C>G c.*121C>G (n.*121C>G) c.1652C>G (p.Ala551Gly) c.539C>G (p.Ala180Gly) c.1634C>G (p.Ala545Gly) c.1349C>G (p.Ala450Gly) c.131C>G (p.Ala44Gly) n.501C>G | |
17 | g.63486699C>T | CA400556356 | ACE | c.2201C>T (p.Ala734Val) c.479C>T (p.Ala160Val) c.*271C>T (n.*271C>T) c.382C>T (n.382C>T) c.763C>T c.*121C>T (n.*121C>T) c.1652C>T (p.Ala551Val) c.539C>T (p.Ala180Val) c.1634C>T (p.Ala545Val) c.1349C>T (p.Ala450Val) c.131C>T (p.Ala44Val) n.501C>T | gnomAD v4 |
17 | g.63486700C>A | CA501184617 | ACE | c.2202C>A (p.Ala734=) c.480C>A (p.Ala160=) c.*272C>A (n.*272C>A) c.383C>A (n.383C>A) c.764C>A c.*122C>A (n.*122C>A) c.1653C>A (p.Ala551=) c.540C>A (p.Ala180=) c.1635C>A (p.Ala545=) c.1350C>A (p.Ala450=) c.132C>A (p.Ala44=) n.502C>A | |
17 | g.63486700C>G | CA501184620 | ACE | c.2202C>G (p.Ala734=) c.480C>G (p.Ala160=) c.*272C>G (n.*272C>G) c.383C>G (n.383C>G) c.764C>G c.*122C>G (n.*122C>G) c.1653C>G (p.Ala551=) c.540C>G (p.Ala180=) c.1635C>G (p.Ala545=) c.1350C>G (p.Ala450=) c.132C>G (p.Ala44=) n.502C>G | |
17 | g.63486700C>T | CA501184622 | ACE | c.2202C>T (p.Ala734=) c.480C>T (p.Ala160=) c.*272C>T (n.*272C>T) c.383C>T (n.383C>T) c.764C>T c.*122C>T (n.*122C>T) c.1653C>T (p.Ala551=) c.540C>T (p.Ala180=) c.1635C>T (p.Ala545=) c.1350C>T (p.Ala450=) c.132C>T (p.Ala44=) n.502C>T | |
17 | g.63486701C>A | CA400556359 | ACE | c.2203C>A (p.Gln735Lys) c.481C>A (p.Gln161Lys) c.*273C>A (n.*273C>A) c.384C>A (n.384C>A) c.765C>A c.*123C>A (n.*123C>A) c.1654C>A (p.Gln552Lys) c.541C>A (p.Gln181Lys) c.1636C>A (p.Gln546Lys) c.1351C>A (p.Gln451Lys) c.133C>A (p.Gln45Lys) n.503C>A | |
17 | g.63486701C= | CA2269944890 | ACE | c.2203C= (p.Gln735=) c.481C= (p.Gln161=) c.*273C= (n.*273C=) c.384C= (n.384C=) c.765C= c.*123C= (n.*123C=) c.1654C= (p.Gln552=) c.541C= (p.Gln181=) c.1636C= (p.Gln546=) c.1351C= (p.Gln451=) c.133C= (p.Gln45=) n.503C= | |
17 | g.63486701C>G | CA400556360 | ACE | c.2203C>G (p.Gln735Glu) c.481C>G (p.Gln161Glu) c.*273C>G (n.*273C>G) c.384C>G (n.384C>G) c.765C>G c.*123C>G (n.*123C>G) c.1654C>G (p.Gln552Glu) c.541C>G (p.Gln181Glu) c.1636C>G (p.Gln546Glu) c.1351C>G (p.Gln451Glu) c.133C>G (p.Gln45Glu) n.503C>G | |
17 | g.63486701C>T | CA292881577 | ACE | c.2203C>T (p.Gln735Ter) c.481C>T (p.Gln161Ter) c.*273C>T (n.*273C>T) c.384C>T (n.384C>T) c.765C>T c.*123C>T (n.*123C>T) c.1654C>T (p.Gln552Ter) c.541C>T (p.Gln181Ter) c.1636C>T (p.Gln546Ter) c.1351C>T (p.Gln451Ter) c.133C>T (p.Gln45Ter) n.503C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486702A>C | CA400556361 | ACE | c.2204A>C (p.Gln735Pro) c.482A>C (p.Gln161Pro) c.*274A>C (n.*274A>C) c.385A>C (n.385A>C) c.766A>C c.*124A>C (n.*124A>C) c.1655A>C (p.Gln552Pro) c.542A>C (p.Gln181Pro) c.1637A>C (p.Gln546Pro) c.1352A>C (p.Gln451Pro) c.134A>C (p.Gln45Pro) n.504A>C | |
17 | g.63486702A>G | CA400556362 | ACE | c.2204A>G (p.Gln735Arg) c.482A>G (p.Gln161Arg) c.*274A>G (n.*274A>G) c.385A>G (n.385A>G) c.766A>G c.*124A>G (n.*124A>G) c.1655A>G (p.Gln552Arg) c.542A>G (p.Gln181Arg) c.1637A>G (p.Gln546Arg) c.1352A>G (p.Gln451Arg) c.134A>G (p.Gln45Arg) n.504A>G | gnomAD v4 |
17 | g.63486702A>T | CA400556363 | ACE | c.2204A>T (p.Gln735Leu) c.482A>T (p.Gln161Leu) c.*274A>T (n.*274A>T) c.385A>T (n.385A>T) c.766A>T c.*124A>T (n.*124A>T) c.1655A>T (p.Gln552Leu) c.542A>T (p.Gln181Leu) c.1637A>T (p.Gln546Leu) c.1352A>T (p.Gln451Leu) c.134A>T (p.Gln45Leu) n.504A>T | |
17 | g.63486703G>A | CA501184638 | ACE | c.2205G>A (p.Gln735=) c.483G>A (p.Gln161=) c.*275G>A (n.*275G>A) c.386G>A (n.386G>A) c.767G>A c.*125G>A (n.*125G>A) c.1656G>A (p.Gln552=) c.543G>A (p.Gln181=) c.1638G>A (p.Gln546=) c.1353G>A (p.Gln451=) c.135G>A (p.Gln45=) n.505G>A | |
17 | g.63486703G>C | CA400556364 | ACE | c.2205G>C (p.Gln735His) c.483G>C (p.Gln161His) c.*275G>C (n.*275G>C) c.386G>C (n.386G>C) c.767G>C c.*125G>C (n.*125G>C) c.1656G>C (p.Gln552His) c.543G>C (p.Gln181His) c.1638G>C (p.Gln546His) c.1353G>C (p.Gln451His) c.135G>C (p.Gln45His) n.505G>C | |
17 | g.63486703G>T | CA400556365 | ACE | c.2205G>T (p.Gln735His) c.483G>T (p.Gln161His) c.*275G>T (n.*275G>T) c.386G>T (n.386G>T) c.767G>T c.*125G>T (n.*125G>T) c.1656G>T (p.Gln552His) c.543G>T (p.Gln181His) c.1638G>T (p.Gln546His) c.1353G>T (p.Gln451His) c.135G>T (p.Gln45His) n.505G>T | |
17 | g.63486704G>A | CA400556366 | ACE | c.2206G>A (p.Glu736Lys) c.484G>A (p.Glu162Lys) c.*276G>A (n.*276G>A) c.387G>A (n.387G>A) c.768G>A c.*126G>A (n.*126G>A) c.1657G>A (p.Glu553Lys) c.544G>A (p.Glu182Lys) c.1639G>A (p.Glu547Lys) c.1354G>A (p.Glu452Lys) c.136G>A (p.Glu46Lys) n.506G>A | gnomAD v4 |
17 | g.63486704G>C | CA400556367 | ACE | c.2206G>C (p.Glu736Gln) c.484G>C (p.Glu162Gln) c.*276G>C (n.*276G>C) c.387G>C (n.387G>C) c.768G>C c.*126G>C (n.*126G>C) c.1657G>C (p.Glu553Gln) c.544G>C (p.Glu182Gln) c.1639G>C (p.Glu547Gln) c.1354G>C (p.Glu452Gln) c.136G>C (p.Glu46Gln) n.506G>C | |
17 | g.63486704G>T | CA400556368 | ACE | c.2206G>T (p.Glu736Ter) c.484G>T (p.Glu162Ter) c.*276G>T (n.*276G>T) c.387G>T (n.387G>T) c.768G>T c.*126G>T (n.*126G>T) c.1657G>T (p.Glu553Ter) c.544G>T (p.Glu182Ter) c.1639G>T (p.Glu547Ter) c.1354G>T (p.Glu452Ter) c.136G>T (p.Glu46Ter) n.506G>T | |
17 | g.63486705A>C | CA400556369 | ACE | c.2207A>C (p.Glu736Ala) c.485A>C (p.Glu162Ala) c.*277A>C (n.*277A>C) c.388A>C (n.388A>C) c.769A>C c.*127A>C (n.*127A>C) c.1658A>C (p.Glu553Ala) c.545A>C (p.Glu182Ala) c.1640A>C (p.Glu547Ala) c.1355A>C (p.Glu452Ala) c.137A>C (p.Glu46Ala) n.507A>C | |
17 | g.63486705A>G | CA400556371 | ACE | c.2207A>G (p.Glu736Gly) c.485A>G (p.Glu162Gly) c.*277A>G (n.*277A>G) c.388A>G (n.388A>G) c.769A>G c.*127A>G (n.*127A>G) c.1658A>G (p.Glu553Gly) c.545A>G (p.Glu182Gly) c.1640A>G (p.Glu547Gly) c.1355A>G (p.Glu452Gly) c.137A>G (p.Glu46Gly) n.507A>G | gnomAD v4 |
17 | g.63486705A>T | CA400556370 | ACE | c.2207A>T (p.Glu736Val) c.485A>T (p.Glu162Val) c.*277A>T (n.*277A>T) c.388A>T (n.388A>T) c.769A>T c.*127A>T (n.*127A>T) c.1658A>T (p.Glu553Val) c.545A>T (p.Glu182Val) c.1640A>T (p.Glu547Val) c.1355A>T (p.Glu452Val) c.137A>T (p.Glu46Val) n.507A>T | |
17 | g.63486706G>A | CA501184661 | ACE | c.2208G>A (p.Glu736=) c.486G>A (p.Glu162=) c.*278G>A (n.*278G>A) c.389G>A (n.389G>A) c.770G>A c.*128G>A (n.*128G>A) c.1659G>A (p.Glu553=) c.546G>A (p.Glu182=) c.1641G>A (p.Glu547=) c.1356G>A (p.Glu452=) c.138G>A (p.Glu46=) n.508G>A | |
17 | g.63486706G>C | CA400556372 | ACE | c.2208G>C (p.Glu736Asp) c.486G>C (p.Glu162Asp) c.*278G>C (n.*278G>C) c.389G>C (n.389G>C) c.770G>C c.*128G>C (n.*128G>C) c.1659G>C (p.Glu553Asp) c.546G>C (p.Glu182Asp) c.1641G>C (p.Glu547Asp) c.1356G>C (p.Glu452Asp) c.138G>C (p.Glu46Asp) n.508G>C | |
17 | g.63486706G>T | CA400556374 | ACE | c.2208G>T (p.Glu736Asp) c.486G>T (p.Glu162Asp) c.*278G>T (n.*278G>T) c.389G>T (n.389G>T) c.770G>T c.*128G>T (n.*128G>T) c.1659G>T (p.Glu553Asp) c.546G>T (p.Glu182Asp) c.1641G>T (p.Glu547Asp) c.1356G>T (p.Glu452Asp) c.138G>T (p.Glu46Asp) n.508G>T | |
17 | g.63486707C>A | CA400556378 | ACE | c.2209C>A (p.Leu737Met) c.487C>A (p.Leu163Met) c.*279C>A (n.*279C>A) c.390C>A (n.390C>A) c.771C>A c.*129C>A (n.*129C>A) c.1660C>A (p.Leu554Met) c.547C>A (p.Leu183Met) c.1642C>A (p.Leu548Met) c.1357C>A (p.Leu453Met) c.139C>A (p.Leu47Met) n.509C>A | gnomAD v4 |
17 | g.63486707C= | CA2269944891 | ACE | c.2209C= (p.Leu737=) c.487C= (p.Leu163=) c.*279C= (n.*279C=) c.390C= (n.390C=) c.771C= c.*129C= (n.*129C=) c.1660C= (p.Leu554=) c.547C= (p.Leu183=) c.1642C= (p.Leu548=) c.1357C= (p.Leu453=) c.139C= (p.Leu47=) n.509C= | |
17 | g.63486707C>G | CA400556380 | ACE | c.2209C>G (p.Leu737Val) c.487C>G (p.Leu163Val) c.*279C>G (n.*279C>G) c.390C>G (n.390C>G) c.771C>G c.*129C>G (n.*129C>G) c.1660C>G (p.Leu554Val) c.547C>G (p.Leu183Val) c.1642C>G (p.Leu548Val) c.1357C>G (p.Leu453Val) c.139C>G (p.Leu47Val) n.509C>G | gnomAD v4 |
17 | g.63486707C>T | CA501184670 | ACE | c.2209C>T (p.Leu737=) c.487C>T (p.Leu163=) c.*279C>T (n.*279C>T) c.390C>T (n.390C>T) c.771C>T c.*129C>T (n.*129C>T) c.1660C>T (p.Leu554=) c.547C>T (p.Leu183=) c.1642C>T (p.Leu548=) c.1357C>T (p.Leu453=) c.139C>T (p.Leu47=) n.509C>T | dbSNP gnomAD v2 |
17 | g.63486708T>A | CA8699961 | ACE | c.2210T>A (p.Leu737Gln) c.488T>A (p.Leu163Gln) c.*280T>A (n.*280T>A) c.391T>A (n.391T>A) c.772T>A c.*130T>A (n.*130T>A) c.1661T>A (p.Leu554Gln) c.548T>A (p.Leu183Gln) c.1643T>A (p.Leu548Gln) c.1358T>A (p.Leu453Gln) c.140T>A (p.Leu47Gln) n.510T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486708T>C | CA400556386 | ACE | c.2210T>C (p.Leu737Pro) c.488T>C (p.Leu163Pro) c.*280T>C (n.*280T>C) c.391T>C (n.391T>C) c.772T>C c.*130T>C (n.*130T>C) c.1661T>C (p.Leu554Pro) c.548T>C (p.Leu183Pro) c.1643T>C (p.Leu548Pro) c.1358T>C (p.Leu453Pro) c.140T>C (p.Leu47Pro) n.510T>C | |
17 | g.63486708T>G | CA400556384 | ACE | c.2210T>G (p.Leu737Arg) c.488T>G (p.Leu163Arg) c.*280T>G (n.*280T>G) c.391T>G (n.391T>G) c.772T>G c.*130T>G (n.*130T>G) c.1661T>G (p.Leu554Arg) c.548T>G (p.Leu183Arg) c.1643T>G (p.Leu548Arg) c.1358T>G (p.Leu453Arg) c.140T>G (p.Leu47Arg) n.510T>G | |
17 | g.63486708T= | CA2269944892 | ACE | c.2210T= (p.Leu737=) c.488T= (p.Leu163=) c.*280T= (n.*280T=) c.391T= (n.391T=) c.772T= c.*130T= (n.*130T=) c.1661T= (p.Leu554=) c.548T= (p.Leu183=) c.1643T= (p.Leu548=) c.1358T= (p.Leu453=) c.140T= (p.Leu47=) n.510T= | |
17 | g.63486709G>A | CA501184680 | ACE | c.2211G>A (p.Leu737=) c.489G>A (p.Leu163=) c.*281G>A (n.*281G>A) c.392G>A (n.392G>A) c.773G>A c.*131G>A (n.*131G>A) c.1662G>A (p.Leu554=) c.549G>A (p.Leu183=) c.1644G>A (p.Leu548=) c.1359G>A (p.Leu453=) c.141G>A (p.Leu47=) n.511G>A | gnomAD v4 |
17 | g.63486709G>C | CA501184683 | ACE | c.2211G>C (p.Leu737=) c.489G>C (p.Leu163=) c.*281G>C (n.*281G>C) c.392G>C (n.392G>C) c.773G>C c.*131G>C (n.*131G>C) c.1662G>C (p.Leu554=) c.549G>C (p.Leu183=) c.1644G>C (p.Leu548=) c.1359G>C (p.Leu453=) c.141G>C (p.Leu47=) n.511G>C | |
17 | g.63486709G>T | CA501184685 | ACE | c.2211G>T (p.Leu737=) c.489G>T (p.Leu163=) c.*281G>T (n.*281G>T) c.392G>T (n.392G>T) c.773G>T c.*131G>T (n.*131G>T) c.1662G>T (p.Leu554=) c.549G>T (p.Leu183=) c.1644G>T (p.Leu548=) c.1359G>T (p.Leu453=) c.141G>T (p.Leu47=) n.511G>T | |
17 | g.63486710G>A | CA400556389 | ACE | c.2212G>A (p.Glu738Lys) c.490G>A (p.Glu164Lys) c.*282G>A (n.*282G>A) c.393G>A (n.393G>A) c.774G>A c.*132G>A (n.*132G>A) c.1663G>A (p.Glu555Lys) c.550G>A (p.Glu184Lys) c.1645G>A (p.Glu549Lys) c.1360G>A (p.Glu454Lys) c.142G>A (p.Glu48Lys) n.512G>A | |
17 | g.63486710G>C | CA400556390 | ACE | c.2212G>C (p.Glu738Gln) c.490G>C (p.Glu164Gln) c.*282G>C (n.*282G>C) c.393G>C (n.393G>C) c.774G>C c.*132G>C (n.*132G>C) c.1663G>C (p.Glu555Gln) c.550G>C (p.Glu184Gln) c.1645G>C (p.Glu549Gln) c.1360G>C (p.Glu454Gln) c.142G>C (p.Glu48Gln) n.512G>C | |
17 | g.63486710G>T | CA400556391 | ACE | c.2212G>T (p.Glu738Ter) c.490G>T (p.Glu164Ter) c.*282G>T (n.*282G>T) c.393G>T (n.393G>T) c.774G>T c.*132G>T (n.*132G>T) c.1663G>T (p.Glu555Ter) c.550G>T (p.Glu184Ter) c.1645G>T (p.Glu549Ter) c.1360G>T (p.Glu454Ter) c.142G>T (p.Glu48Ter) n.512G>T | gnomAD v4 |
17 | g.63486711A= | CA2269944893 | ACE | c.2213A= (p.Glu738=) c.491A= (p.Glu164=) c.*283A= (n.*283A=) c.394A= (n.394A=) c.775A= c.*133A= (n.*133A=) c.1664A= (p.Glu555=) c.551A= (p.Glu184=) c.1646A= (p.Glu549=) c.1361A= (p.Glu454=) c.143A= (p.Glu48=) n.513A= | |
17 | g.63486711A>C | CA400556394 | ACE | c.2213A>C (p.Glu738Ala) c.491A>C (p.Glu164Ala) c.*283A>C (n.*283A>C) c.394A>C (n.394A>C) c.775A>C c.*133A>C (n.*133A>C) c.1664A>C (p.Glu555Ala) c.551A>C (p.Glu184Ala) c.1646A>C (p.Glu549Ala) c.1361A>C (p.Glu454Ala) c.143A>C (p.Glu48Ala) n.513A>C | |
17 | g.63486711A>G | CA400556396 | ACE | c.2213A>G (p.Glu738Gly) c.491A>G (p.Glu164Gly) c.*283A>G (n.*283A>G) c.394A>G (n.394A>G) c.775A>G c.*133A>G (n.*133A>G) c.1664A>G (p.Glu555Gly) c.551A>G (p.Glu184Gly) c.1646A>G (p.Glu549Gly) c.1361A>G (p.Glu454Gly) c.143A>G (p.Glu48Gly) n.513A>G | |
17 | g.63486711A>T | CA400556399 | ACE | c.2213A>T (p.Glu738Val) c.491A>T (p.Glu164Val) c.*283A>T (n.*283A>T) c.394A>T (n.394A>T) c.775A>T c.*133A>T (n.*133A>T) c.1664A>T (p.Glu555Val) c.551A>T (p.Glu184Val) c.1646A>T (p.Glu549Val) c.1361A>T (p.Glu454Val) c.143A>T (p.Glu48Val) n.513A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63486712G>A | CA501184698 | ACE | c.2214G>A (p.Glu738=) c.492G>A (p.Glu164=) c.*284G>A (n.*284G>A) c.395G>A (n.395G>A) c.776G>A c.*134G>A (n.*134G>A) c.1665G>A (p.Glu555=) c.552G>A (p.Glu184=) c.1647G>A (p.Glu549=) c.1362G>A (p.Glu454=) c.144G>A (p.Glu48=) n.514G>A | gnomAD v4 |
17 | g.63486712G>C | CA400556400 | ACE | c.2214G>C (p.Glu738Asp) c.492G>C (p.Glu164Asp) c.*284G>C (n.*284G>C) c.395G>C (n.395G>C) c.776G>C c.*134G>C (n.*134G>C) c.1665G>C (p.Glu555Asp) c.552G>C (p.Glu184Asp) c.1647G>C (p.Glu549Asp) c.1362G>C (p.Glu454Asp) c.144G>C (p.Glu48Asp) n.514G>C | |
17 | g.63486712G>T | CA400556402 | ACE | c.2214G>T (p.Glu738Asp) c.492G>T (p.Glu164Asp) c.*284G>T (n.*284G>T) c.395G>T (n.395G>T) c.776G>T c.*134G>T (n.*134G>T) c.1665G>T (p.Glu555Asp) c.552G>T (p.Glu184Asp) c.1647G>T (p.Glu549Asp) c.1362G>T (p.Glu454Asp) c.144G>T (p.Glu48Asp) n.514G>T |