UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63488691del | CA2639263698 | ACE | c.2349del (p.Leu784TyrfsTer?) c.627del (p.Leu210TyrfsTer?) c.*419del (n.*419del) c.608del (n.608del) c.*78del (n.*78del) c.*269del (n.*269del) c.117del (p.Leu40TyrfsTer?) n.295del c.1800del (p.Leu601TyrfsTer?) c.687del (p.Leu230TyrfsTer?) c.1782del (p.Leu595TyrfsTer?) c.1497del (p.Leu500TyrfsTer?) c.279del (p.Leu94TyrfsTer?) n.727del | gnomAD v4 |
| 17 | g.63488691G>A | CA501186860 | ACE | c.2349G>A (p.Leu783=) c.627G>A (p.Leu209=) c.*419G>A (n.*419G>A) c.608G>A (n.608G>A) c.*78G>A (n.*78G>A) c.*269G>A (n.*269G>A) c.117G>A (p.Leu39=) n.295G>A c.1800G>A (p.Leu600=) c.687G>A (p.Leu229=) c.1782G>A (p.Leu594=) c.1497G>A (p.Leu499=) c.279G>A (p.Leu93=) n.727G>A | gnomAD v4 |
| 17 | g.63488691G>C | CA501186862 | ACE | c.2349G>C (p.Leu783=) c.627G>C (p.Leu209=) c.*419G>C (n.*419G>C) c.608G>C (n.608G>C) c.*78G>C (n.*78G>C) c.*269G>C (n.*269G>C) c.117G>C (p.Leu39=) n.295G>C c.1800G>C (p.Leu600=) c.687G>C (p.Leu229=) c.1782G>C (p.Leu594=) c.1497G>C (p.Leu499=) c.279G>C (p.Leu93=) n.727G>C | |
| 17 | g.63488691G>T | CA501186864 | ACE | c.2349G>T (p.Leu783=) c.627G>T (p.Leu209=) c.*419G>T (n.*419G>T) c.608G>T (n.608G>T) c.*78G>T (n.*78G>T) c.*269G>T (n.*269G>T) c.117G>T (p.Leu39=) n.295G>T c.1800G>T (p.Leu600=) c.687G>T (p.Leu229=) c.1782G>T (p.Leu594=) c.1497G>T (p.Leu499=) c.279G>T (p.Leu93=) n.727G>T | |
| 17 | g.63488691_63488692delinsGT | CA2269945947 | ACE | c.2349_2350delinsGT (p.Leu783=) c.627_628delinsGT (p.Leu209=) c.*419_*420delinsGT (n.*419_*420delinsGT) c.608_609delinsGT (n.608_609delinsGT) c.*78_*79delinsGT (n.*78_*79delinsGT) c.*269_*270delinsGT (n.*269_*270delinsGT) c.117_118delinsGT (p.Leu39=) n.295_296delinsGT c.1800_1801delinsGT (p.Leu600=) c.687_688delinsGT (p.Leu229=) c.1782_1783delinsGT (p.Leu594=) c.1497_1498delinsGT (p.Leu499=) c.279_280delinsGT (p.Leu93=) n.727_728delinsGT | |
| 17 | g.63488692_63488703del | CA985411686 | ACE | c.2350_2361del (p.Leu784_Trp787del) c.628_639del (p.Leu210_Trp213del) c.*420_*431del (n.*420_*431del) c.609_620del (n.609_620del) c.*79_*90del (n.*79_*90del) c.*270_*281del (n.*270_*281del) c.118_129del (p.Leu40_Trp43del) n.296_307del c.1801_1812del (p.Leu601_Trp604del) c.688_699del (p.Leu230_Trp233del) c.1783_1794del (p.Leu595_Trp598del) c.1498_1509del (p.Leu500_Trp503del) c.280_291del (p.Leu94_Trp97del) n.728_739del | gnomAD v3 gnomAD v4 |
| 17 | g.63488692T>A | CA400557876 | ACE | c.2350T>A (p.Leu784Ile) c.628T>A (p.Leu210Ile) c.*420T>A (n.*420T>A) c.609T>A (n.609T>A) c.*79T>A (n.*79T>A) c.*270T>A (n.*270T>A) c.118T>A (p.Leu40Ile) n.296T>A c.1801T>A (p.Leu601Ile) c.688T>A (p.Leu230Ile) c.1783T>A (p.Leu595Ile) c.1498T>A (p.Leu500Ile) c.280T>A (p.Leu94Ile) n.728T>A | |
| 17 | g.63488692T>C | CA501186868 | ACE | c.2350T>C (p.Leu784=) c.628T>C (p.Leu210=) c.*420T>C (n.*420T>C) c.609T>C (n.609T>C) c.*79T>C (n.*79T>C) c.*270T>C (n.*270T>C) c.118T>C (p.Leu40=) n.296T>C c.1801T>C (p.Leu601=) c.688T>C (p.Leu230=) c.1783T>C (p.Leu595=) c.1498T>C (p.Leu500=) c.280T>C (p.Leu94=) n.728T>C | |
| 17 | g.63488692T>G | CA400557877 | ACE | c.2350T>G (p.Leu784Val) c.628T>G (p.Leu210Val) c.*420T>G (n.*420T>G) c.609T>G (n.609T>G) c.*79T>G (n.*79T>G) c.*270T>G (n.*270T>G) c.118T>G (p.Leu40Val) n.296T>G c.1801T>G (p.Leu601Val) c.688T>G (p.Leu230Val) c.1783T>G (p.Leu595Val) c.1498T>G (p.Leu500Val) c.280T>G (p.Leu94Val) n.728T>G | |
| 17 | g.63488693del | CA627148294 | ACE | c.2351del (p.Leu784TyrfsTer?) c.629del (p.Leu210TyrfsTer?) c.*421del (n.*421del) c.610del (n.610del) c.*80del (n.*80del) c.*271del (n.*271del) c.119del (p.Leu40TyrfsTer?) n.297del c.1802del (p.Leu601TyrfsTer?) c.689del (p.Leu230TyrfsTer?) c.1784del (p.Leu595TyrfsTer?) c.1499del (p.Leu500TyrfsTer?) c.281del (p.Leu94TyrfsTer?) n.729del | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63488693T>A | CA400557880 | ACE | c.2351T>A (p.Leu784Ter) c.629T>A (p.Leu210Ter) c.*421T>A (n.*421T>A) c.610T>A (n.610T>A) c.*80T>A (n.*80T>A) c.*271T>A (n.*271T>A) c.119T>A (p.Leu40Ter) n.297T>A c.1802T>A (p.Leu601Ter) c.689T>A (p.Leu230Ter) c.1784T>A (p.Leu595Ter) c.1499T>A (p.Leu500Ter) c.281T>A (p.Leu94Ter) n.729T>A | |
| 17 | g.63488693T>C | CA400557879 | ACE | c.2351T>C (p.Leu784Ser) c.629T>C (p.Leu210Ser) c.*421T>C (n.*421T>C) c.610T>C (n.610T>C) c.*80T>C (n.*80T>C) c.*271T>C (n.*271T>C) c.119T>C (p.Leu40Ser) n.297T>C c.1802T>C (p.Leu601Ser) c.689T>C (p.Leu230Ser) c.1784T>C (p.Leu595Ser) c.1499T>C (p.Leu500Ser) c.281T>C (p.Leu94Ser) n.729T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63488693T>G | CA400557878 | ACE | c.2351T>G (p.Leu784Ter) c.629T>G (p.Leu210Ter) c.*421T>G (n.*421T>G) c.610T>G (n.610T>G) c.*80T>G (n.*80T>G) c.*271T>G (n.*271T>G) c.119T>G (p.Leu40Ter) n.297T>G c.1802T>G (p.Leu601Ter) c.689T>G (p.Leu230Ter) c.1784T>G (p.Leu595Ter) c.1499T>G (p.Leu500Ter) c.281T>G (p.Leu94Ter) n.729T>G | |
| 17 | g.63488693T= | CA2269945948 | ACE | c.2351T= (p.Leu784=) c.629T= (p.Leu210=) c.*421T= (n.*421T=) c.610T= (n.610T=) c.*80T= (n.*80T=) c.*271T= (n.*271T=) c.119T= (p.Leu40=) n.297T= c.1802T= (p.Leu601=) c.689T= (p.Leu230=) c.1784T= (p.Leu595=) c.1499T= (p.Leu500=) c.281T= (p.Leu94=) n.729T= | |
| 17 | g.63488694A>C | CA400557881 | ACE | c.2352A>C (p.Leu784Phe) c.630A>C (p.Leu210Phe) c.*422A>C (n.*422A>C) c.611A>C (n.611A>C) c.*81A>C (n.*81A>C) c.*272A>C (n.*272A>C) c.120A>C (p.Leu40Phe) n.298A>C c.1803A>C (p.Leu601Phe) c.690A>C (p.Leu230Phe) c.1785A>C (p.Leu595Phe) c.1500A>C (p.Leu500Phe) c.282A>C (p.Leu94Phe) n.730A>C | |
| 17 | g.63488694A>G | CA501186876 | ACE | c.2352A>G (p.Leu784=) c.630A>G (p.Leu210=) c.*422A>G (n.*422A>G) c.611A>G (n.611A>G) c.*81A>G (n.*81A>G) c.*272A>G (n.*272A>G) c.120A>G (p.Leu40=) n.298A>G c.1803A>G (p.Leu601=) c.690A>G (p.Leu230=) c.1785A>G (p.Leu595=) c.1500A>G (p.Leu500=) c.282A>G (p.Leu94=) n.730A>G | |
| 17 | g.63488694A>T | CA400557882 | ACE | c.2352A>T (p.Leu784Phe) c.630A>T (p.Leu210Phe) c.*422A>T (n.*422A>T) c.611A>T (n.611A>T) c.*81A>T (n.*81A>T) c.*272A>T (n.*272A>T) c.120A>T (p.Leu40Phe) n.298A>T c.1803A>T (p.Leu601Phe) c.690A>T (p.Leu230Phe) c.1785A>T (p.Leu595Phe) c.1500A>T (p.Leu500Phe) c.282A>T (p.Leu94Phe) n.730A>T | |
| 17 | g.63488695T>A | CA400557883 | ACE | c.2353T>A (p.Trp785Arg) c.631T>A (p.Trp211Arg) c.*423T>A (n.*423T>A) c.612T>A (n.612T>A) c.*82T>A (n.*82T>A) c.*273T>A (n.*273T>A) c.121T>A (p.Trp41Arg) n.299T>A c.1804T>A (p.Trp602Arg) c.691T>A (p.Trp231Arg) c.1786T>A (p.Trp596Arg) c.1501T>A (p.Trp501Arg) c.283T>A (p.Trp95Arg) n.731T>A | gnomAD v4 |
| 17 | g.63488695T>C | CA400557884 | ACE | c.2353T>C (p.Trp785Arg) c.631T>C (p.Trp211Arg) c.*423T>C (n.*423T>C) c.612T>C (n.612T>C) c.*82T>C (n.*82T>C) c.*273T>C (n.*273T>C) c.121T>C (p.Trp41Arg) n.299T>C c.1804T>C (p.Trp602Arg) c.691T>C (p.Trp231Arg) c.1786T>C (p.Trp596Arg) c.1501T>C (p.Trp501Arg) c.283T>C (p.Trp95Arg) n.731T>C | |
| 17 | g.63488695T>G | CA8700068 | ACE | c.2353T>G (p.Trp785Gly) c.631T>G (p.Trp211Gly) c.*423T>G (n.*423T>G) c.612T>G (n.612T>G) c.*82T>G (n.*82T>G) c.*273T>G (n.*273T>G) c.121T>G (p.Trp41Gly) n.299T>G c.1804T>G (p.Trp602Gly) c.691T>G (p.Trp231Gly) c.1786T>G (p.Trp596Gly) c.1501T>G (p.Trp501Gly) c.283T>G (p.Trp95Gly) n.731T>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.63488695T= | CA2269945949 | ACE | c.2353T= (p.Trp785=) c.631T= (p.Trp211=) c.*423T= (n.*423T=) c.612T= (n.612T=) c.*82T= (n.*82T=) c.*273T= (n.*273T=) c.121T= (p.Trp41=) n.299T= c.1804T= (p.Trp602=) c.691T= (p.Trp231=) c.1786T= (p.Trp596=) c.1501T= (p.Trp501=) c.283T= (p.Trp95=) n.731T= | |
| 17 | g.63488696G>A | CA400557885 | ACE | c.2354G>A (p.Trp785Ter) c.632G>A (p.Trp211Ter) c.*424G>A (n.*424G>A) c.613G>A (n.613G>A) c.*83G>A (n.*83G>A) c.*274G>A (n.*274G>A) c.122G>A (p.Trp41Ter) n.300G>A c.1805G>A (p.Trp602Ter) c.692G>A (p.Trp231Ter) c.1787G>A (p.Trp596Ter) c.1502G>A (p.Trp501Ter) c.284G>A (p.Trp95Ter) n.732G>A | |
| 17 | g.63488696G>C | CA400557886 | ACE | c.2354G>C (p.Trp785Ser) c.632G>C (p.Trp211Ser) c.*424G>C (n.*424G>C) c.613G>C (n.613G>C) c.*83G>C (n.*83G>C) c.*274G>C (n.*274G>C) c.122G>C (p.Trp41Ser) n.300G>C c.1805G>C (p.Trp602Ser) c.692G>C (p.Trp231Ser) c.1787G>C (p.Trp596Ser) c.1502G>C (p.Trp501Ser) c.284G>C (p.Trp95Ser) n.732G>C | |
| 17 | g.63488696G>T | CA400557887 | ACE | c.2354G>T (p.Trp785Leu) c.632G>T (p.Trp211Leu) c.*424G>T (n.*424G>T) c.613G>T (n.613G>T) c.*83G>T (n.*83G>T) c.*274G>T (n.*274G>T) c.122G>T (p.Trp41Leu) n.300G>T c.1805G>T (p.Trp602Leu) c.692G>T (p.Trp231Leu) c.1787G>T (p.Trp596Leu) c.1502G>T (p.Trp501Leu) c.284G>T (p.Trp95Leu) n.732G>T | |
| 17 | g.63488697G>A | CA400557888 | ACE | c.2355G>A (p.Trp785Ter) c.633G>A (p.Trp211Ter) c.*425G>A (n.*425G>A) c.614G>A (n.614G>A) c.*84G>A (n.*84G>A) c.*275G>A (n.*275G>A) c.123G>A (p.Trp41Ter) n.301G>A c.1806G>A (p.Trp602Ter) c.693G>A (p.Trp231Ter) c.1788G>A (p.Trp596Ter) c.1503G>A (p.Trp501Ter) c.285G>A (p.Trp95Ter) n.733G>A | |
| 17 | g.63488697G>C | CA400557889 | ACE | c.2355G>C (p.Trp785Cys) c.633G>C (p.Trp211Cys) c.*425G>C (n.*425G>C) c.614G>C (n.614G>C) c.*84G>C (n.*84G>C) c.*275G>C (n.*275G>C) c.123G>C (p.Trp41Cys) n.301G>C c.1806G>C (p.Trp602Cys) c.693G>C (p.Trp231Cys) c.1788G>C (p.Trp596Cys) c.1503G>C (p.Trp501Cys) c.285G>C (p.Trp95Cys) n.733G>C | |
| 17 | g.63488697G>T | CA400557890 | ACE | c.2355G>T (p.Trp785Cys) c.633G>T (p.Trp211Cys) c.*425G>T (n.*425G>T) c.614G>T (n.614G>T) c.*84G>T (n.*84G>T) c.*275G>T (n.*275G>T) c.123G>T (p.Trp41Cys) n.301G>T c.1806G>T (p.Trp602Cys) c.693G>T (p.Trp231Cys) c.1788G>T (p.Trp596Cys) c.1503G>T (p.Trp501Cys) c.285G>T (p.Trp95Cys) n.733G>T | gnomAD v4 COSMIC |
| 17 | g.63488698G>A | CA400557891 | ACE | c.2356G>A (p.Ala786Thr) c.634G>A (p.Ala212Thr) c.*426G>A (n.*426G>A) c.615G>A (n.615G>A) c.*85G>A (n.*85G>A) c.*276G>A (n.*276G>A) c.124G>A (p.Ala42Thr) n.302G>A c.1807G>A (p.Ala603Thr) c.694G>A (p.Ala232Thr) c.1789G>A (p.Ala597Thr) c.1504G>A (p.Ala502Thr) c.286G>A (p.Ala96Thr) n.734G>A | COSMIC |
| 17 | g.63488698G>C | CA400557892 | ACE | c.2356G>C (p.Ala786Pro) c.634G>C (p.Ala212Pro) c.*426G>C (n.*426G>C) c.615G>C (n.615G>C) c.*85G>C (n.*85G>C) c.*276G>C (n.*276G>C) c.124G>C (p.Ala42Pro) n.302G>C c.1807G>C (p.Ala603Pro) c.694G>C (p.Ala232Pro) c.1789G>C (p.Ala597Pro) c.1504G>C (p.Ala502Pro) c.286G>C (p.Ala96Pro) n.734G>C | |
| 17 | g.63488698G>T | CA400557893 | ACE | c.2356G>T (p.Ala786Ser) c.634G>T (p.Ala212Ser) c.*426G>T (n.*426G>T) c.615G>T (n.615G>T) c.*85G>T (n.*85G>T) c.*276G>T (n.*276G>T) c.124G>T (p.Ala42Ser) n.302G>T c.1807G>T (p.Ala603Ser) c.694G>T (p.Ala232Ser) c.1789G>T (p.Ala597Ser) c.1504G>T (p.Ala502Ser) c.286G>T (p.Ala96Ser) n.734G>T | |
| 17 | g.63488699C>A | CA400557896 | ACE | c.2357C>A (p.Ala786Glu) c.635C>A (p.Ala212Glu) c.*427C>A (n.*427C>A) c.616C>A (n.616C>A) c.*86C>A (n.*86C>A) c.*277C>A (n.*277C>A) c.125C>A (p.Ala42Glu) n.303C>A c.1808C>A (p.Ala603Glu) c.695C>A (p.Ala232Glu) c.1790C>A (p.Ala597Glu) c.1505C>A (p.Ala502Glu) c.287C>A (p.Ala96Glu) n.735C>A | |
| 17 | g.63488699C= | CA2269945950 | ACE | c.2357C= (p.Ala786=) c.635C= (p.Ala212=) c.*427C= (n.*427C=) c.616C= (n.616C=) c.*86C= (n.*86C=) c.*277C= (n.*277C=) c.125C= (p.Ala42=) n.303C= c.1808C= (p.Ala603=) c.695C= (p.Ala232=) c.1790C= (p.Ala597=) c.1505C= (p.Ala502=) c.287C= (p.Ala96=) n.735C= | |
| 17 | g.63488699C>G | CA400557895 | ACE | c.2357C>G (p.Ala786Gly) c.635C>G (p.Ala212Gly) c.*427C>G (n.*427C>G) c.616C>G (n.616C>G) c.*86C>G (n.*86C>G) c.*277C>G (n.*277C>G) c.125C>G (p.Ala42Gly) n.303C>G c.1808C>G (p.Ala603Gly) c.695C>G (p.Ala232Gly) c.1790C>G (p.Ala597Gly) c.1505C>G (p.Ala502Gly) c.287C>G (p.Ala96Gly) n.735C>G | |
| 17 | g.63488699C>T | CA400557894 | ACE | c.2357C>T (p.Ala786Val) c.635C>T (p.Ala212Val) c.*427C>T (n.*427C>T) c.616C>T (n.616C>T) c.*86C>T (n.*86C>T) c.*277C>T (n.*277C>T) c.125C>T (p.Ala42Val) n.303C>T c.1808C>T (p.Ala603Val) c.695C>T (p.Ala232Val) c.1790C>T (p.Ala597Val) c.1505C>T (p.Ala502Val) c.287C>T (p.Ala96Val) n.735C>T | dbSNP gnomAD v4 |
| 17 | g.63488700A>C | CA501186901 | ACE | c.2358A>C (p.Ala786=) c.636A>C (p.Ala212=) c.*428A>C (n.*428A>C) c.617A>C (n.617A>C) c.*87A>C (n.*87A>C) c.*278A>C (n.*278A>C) c.126A>C (p.Ala42=) n.304A>C c.1809A>C (p.Ala603=) c.696A>C (p.Ala232=) c.1791A>C (p.Ala597=) c.1506A>C (p.Ala502=) c.288A>C (p.Ala96=) n.736A>C | |
| 17 | g.63488700A>G | CA501186905 | ACE | c.2358A>G (p.Ala786=) c.636A>G (p.Ala212=) c.*428A>G (n.*428A>G) c.617A>G (n.617A>G) c.*87A>G (n.*87A>G) c.*278A>G (n.*278A>G) c.126A>G (p.Ala42=) n.304A>G c.1809A>G (p.Ala603=) c.696A>G (p.Ala232=) c.1791A>G (p.Ala597=) c.1506A>G (p.Ala502=) c.288A>G (p.Ala96=) n.736A>G | |
| 17 | g.63488700A>T | CA501186903 | ACE | c.2358A>T (p.Ala786=) c.636A>T (p.Ala212=) c.*428A>T (n.*428A>T) c.617A>T (n.617A>T) c.*87A>T (n.*87A>T) c.*278A>T (n.*278A>T) c.126A>T (p.Ala42=) n.304A>T c.1809A>T (p.Ala603=) c.696A>T (p.Ala232=) c.1791A>T (p.Ala597=) c.1506A>T (p.Ala502=) c.288A>T (p.Ala96=) n.736A>T | |
| 17 | g.63488701T>A | CA400557897 | ACE | c.2359T>A (p.Trp787Arg) c.637T>A (p.Trp213Arg) c.*429T>A (n.*429T>A) c.618T>A (n.618T>A) c.*88T>A (n.*88T>A) c.*279T>A (n.*279T>A) c.127T>A (p.Trp43Arg) n.305T>A c.1810T>A (p.Trp604Arg) c.697T>A (p.Trp233Arg) c.1792T>A (p.Trp598Arg) c.1507T>A (p.Trp503Arg) c.289T>A (p.Trp97Arg) n.737T>A | |
| 17 | g.63488701T>C | CA400557898 | ACE | c.2359T>C (p.Trp787Arg) c.637T>C (p.Trp213Arg) c.*429T>C (n.*429T>C) c.618T>C (n.618T>C) c.*88T>C (n.*88T>C) c.*279T>C (n.*279T>C) c.127T>C (p.Trp43Arg) n.305T>C c.1810T>C (p.Trp604Arg) c.697T>C (p.Trp233Arg) c.1792T>C (p.Trp598Arg) c.1507T>C (p.Trp503Arg) c.289T>C (p.Trp97Arg) n.737T>C | gnomAD v4 |
| 17 | g.63488701T>G | CA400557899 | ACE | c.2359T>G (p.Trp787Gly) c.637T>G (p.Trp213Gly) c.*429T>G (n.*429T>G) c.618T>G (n.618T>G) c.*88T>G (n.*88T>G) c.*279T>G (n.*279T>G) c.127T>G (p.Trp43Gly) n.305T>G c.1810T>G (p.Trp604Gly) c.697T>G (p.Trp233Gly) c.1792T>G (p.Trp598Gly) c.1507T>G (p.Trp503Gly) c.289T>G (p.Trp97Gly) n.737T>G | |
| 17 | g.63488701_63488702delinsTG | CA2269945951 | ACE | c.2359_2360delinsTG (p.Trp787=) c.637_638delinsTG (p.Trp213=) c.*429_*430delinsTG (n.*429_*430delinsTG) c.618_619delinsTG (n.618_619delinsTG) c.*88_*89delinsTG (n.*88_*89delinsTG) c.*279_*280delinsTG (n.*279_*280delinsTG) c.127_128delinsTG (p.Trp43=) n.305_306delinsTG c.1810_1811delinsTG (p.Trp604=) c.697_698delinsTG (p.Trp233=) c.1792_1793delinsTG (p.Trp598=) c.1507_1508delinsTG (p.Trp503=) c.289_290delinsTG (p.Trp97=) n.737_738delinsTG | |
| 17 | g.63488702G>A | CA400557900 | ACE | c.2360G>A (p.Trp787Ter) c.638G>A (p.Trp213Ter) c.*430G>A (n.*430G>A) c.619G>A (n.619G>A) c.*89G>A (n.*89G>A) c.*280G>A (n.*280G>A) c.128G>A (p.Trp43Ter) n.306G>A c.1811G>A (p.Trp604Ter) c.698G>A (p.Trp233Ter) c.1793G>A (p.Trp598Ter) c.1508G>A (p.Trp503Ter) c.290G>A (p.Trp97Ter) n.738G>A | |
| 17 | g.63488702G>C | CA400557901 | ACE | c.2360G>C (p.Trp787Ser) c.638G>C (p.Trp213Ser) c.*430G>C (n.*430G>C) c.619G>C (n.619G>C) c.*89G>C (n.*89G>C) c.*280G>C (n.*280G>C) c.128G>C (p.Trp43Ser) n.306G>C c.1811G>C (p.Trp604Ser) c.698G>C (p.Trp233Ser) c.1793G>C (p.Trp598Ser) c.1508G>C (p.Trp503Ser) c.290G>C (p.Trp97Ser) n.738G>C | |
| 17 | g.63488702G>T | CA400557902 | ACE | c.2360G>T (p.Trp787Leu) c.638G>T (p.Trp213Leu) c.*430G>T (n.*430G>T) c.619G>T (n.619G>T) c.*89G>T (n.*89G>T) c.*280G>T (n.*280G>T) c.128G>T (p.Trp43Leu) n.306G>T c.1811G>T (p.Trp604Leu) c.698G>T (p.Trp233Leu) c.1793G>T (p.Trp598Leu) c.1508G>T (p.Trp503Leu) c.290G>T (p.Trp97Leu) n.738G>T | |
| 17 | g.63488704del | CA773967149 | ACE | c.2362del (p.Glu788ArgfsTer?) c.640del (p.Glu214ArgfsTer?) c.*432del (n.*432del) c.621del (n.621del) c.*91del (n.*91del) c.*282del (n.*282del) c.130del (p.Glu44ArgfsTer?) n.308del c.1813del (p.Glu605ArgfsTer?) c.700del (p.Glu234ArgfsTer?) c.1795del (p.Glu599ArgfsTer?) c.1510del (p.Glu504ArgfsTer?) c.292del (p.Glu98ArgfsTer?) n.740del | dbSNP |
| 17 | g.63488703G>A | CA8700069 | ACE | c.2361G>A (p.Trp787Ter) c.639G>A (p.Trp213Ter) c.*431G>A (n.*431G>A) c.620G>A (n.620G>A) c.*90G>A (n.*90G>A) c.*281G>A (n.*281G>A) c.129G>A (p.Trp43Ter) n.307G>A c.1812G>A (p.Trp604Ter) c.699G>A (p.Trp233Ter) c.1794G>A (p.Trp598Ter) c.1509G>A (p.Trp503Ter) c.291G>A (p.Trp97Ter) n.739G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63488703G>C | CA400557903 | ACE | c.2361G>C (p.Trp787Cys) c.639G>C (p.Trp213Cys) c.*431G>C (n.*431G>C) c.620G>C (n.620G>C) c.*90G>C (n.*90G>C) c.*281G>C (n.*281G>C) c.129G>C (p.Trp43Cys) n.307G>C c.1812G>C (p.Trp604Cys) c.699G>C (p.Trp233Cys) c.1794G>C (p.Trp598Cys) c.1509G>C (p.Trp503Cys) c.291G>C (p.Trp97Cys) n.739G>C | |
| 17 | g.63488703G= | CA2269945952 | ACE | c.2361G= (p.Trp787=) c.639G= (p.Trp213=) c.*431G= (n.*431G=) c.620G= (n.620G=) c.*90G= (n.*90G=) c.*281G= (n.*281G=) c.129G= (p.Trp43=) n.307G= c.1812G= (p.Trp604=) c.699G= (p.Trp233=) c.1794G= (p.Trp598=) c.1509G= (p.Trp503=) c.291G= (p.Trp97=) n.739G= | |
| 17 | g.63488703G>T | CA400557904 | ACE | c.2361G>T (p.Trp787Cys) c.639G>T (p.Trp213Cys) c.*431G>T (n.*431G>T) c.620G>T (n.620G>T) c.*90G>T (n.*90G>T) c.*281G>T (n.*281G>T) c.129G>T (p.Trp43Cys) n.307G>T c.1812G>T (p.Trp604Cys) c.699G>T (p.Trp233Cys) c.1794G>T (p.Trp598Cys) c.1509G>T (p.Trp503Cys) c.291G>T (p.Trp97Cys) n.739G>T | |
| 17 | g.63488704G>A | CA8700070 | ACE | c.2362G>A (p.Glu788Lys) c.640G>A (p.Glu214Lys) c.*432G>A (n.*432G>A) c.621G>A (n.621G>A) c.*91G>A (n.*91G>A) c.*282G>A (n.*282G>A) c.130G>A (p.Glu44Lys) n.308G>A c.1813G>A (p.Glu605Lys) c.700G>A (p.Glu234Lys) c.1795G>A (p.Glu599Lys) c.1510G>A (p.Glu504Lys) c.292G>A (p.Glu98Lys) n.740G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.63488704G>C | CA400557905 | ACE | c.2362G>C (p.Glu788Gln) c.640G>C (p.Glu214Gln) c.*432G>C (n.*432G>C) c.621G>C (n.621G>C) c.*91G>C (n.*91G>C) c.*282G>C (n.*282G>C) c.130G>C (p.Glu44Gln) n.308G>C c.1813G>C (p.Glu605Gln) c.700G>C (p.Glu234Gln) c.1795G>C (p.Glu599Gln) c.1510G>C (p.Glu504Gln) c.292G>C (p.Glu98Gln) n.740G>C | |
| 17 | g.63488704G= | CA2269945953 | ACE | c.2362G= (p.Glu788=) c.640G= (p.Glu214=) c.*432G= (n.*432G=) c.621G= (n.621G=) c.*91G= (n.*91G=) c.*282G= (n.*282G=) c.130G= (p.Glu44=) n.308G= c.1813G= (p.Glu605=) c.700G= (p.Glu234=) c.1795G= (p.Glu599=) c.1510G= (p.Glu504=) c.292G= (p.Glu98=) n.740G= | |
| 17 | g.63488704G>T | CA400557906 | ACE | c.2362G>T (p.Glu788Ter) c.640G>T (p.Glu214Ter) c.*432G>T (n.*432G>T) c.621G>T (n.621G>T) c.*91G>T (n.*91G>T) c.*282G>T (n.*282G>T) c.130G>T (p.Glu44Ter) n.308G>T c.1813G>T (p.Glu605Ter) c.700G>T (p.Glu234Ter) c.1795G>T (p.Glu599Ter) c.1510G>T (p.Glu504Ter) c.292G>T (p.Glu98Ter) n.740G>T | |
| 17 | g.63488705A>C | CA400557909 | ACE | c.2363A>C (p.Glu788Ala) c.641A>C (p.Glu214Ala) c.*433A>C (n.*433A>C) c.622A>C (n.622A>C) c.*92A>C (n.*92A>C) c.*283A>C (n.*283A>C) c.131A>C (p.Glu44Ala) n.309A>C c.1814A>C (p.Glu605Ala) c.701A>C (p.Glu234Ala) c.1796A>C (p.Glu599Ala) c.1511A>C (p.Glu504Ala) c.293A>C (p.Glu98Ala) n.741A>C | |
| 17 | g.63488705A>G | CA400557908 | ACE | c.2363A>G (p.Glu788Gly) c.641A>G (p.Glu214Gly) c.*433A>G (n.*433A>G) c.622A>G (n.622A>G) c.*92A>G (n.*92A>G) c.*283A>G (n.*283A>G) c.131A>G (p.Glu44Gly) n.309A>G c.1814A>G (p.Glu605Gly) c.701A>G (p.Glu234Gly) c.1796A>G (p.Glu599Gly) c.1511A>G (p.Glu504Gly) c.293A>G (p.Glu98Gly) n.741A>G | COSMIC COSMIC COSMIC |
| 17 | g.63488705A>T | CA400557907 | ACE | c.2363A>T (p.Glu788Val) c.641A>T (p.Glu214Val) c.*433A>T (n.*433A>T) c.622A>T (n.622A>T) c.*92A>T (n.*92A>T) c.*283A>T (n.*283A>T) c.131A>T (p.Glu44Val) n.309A>T c.1814A>T (p.Glu605Val) c.701A>T (p.Glu234Val) c.1796A>T (p.Glu599Val) c.1511A>T (p.Glu504Val) c.293A>T (p.Glu98Val) n.741A>T | |
| 17 | g.63488706G>A | CA8700072 | ACE | c.2364G>A (p.Glu788=) c.642G>A (p.Glu214=) c.*434G>A (n.*434G>A) c.623G>A (n.623G>A) c.*93G>A (n.*93G>A) c.*284G>A (n.*284G>A) c.132G>A (p.Glu44=) n.310G>A c.1815G>A (p.Glu605=) c.702G>A (p.Glu234=) c.1797G>A (p.Glu599=) c.1512G>A (p.Glu504=) c.294G>A (p.Glu98=) n.742G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.63488706G>C | CA400557910 | ACE | c.2364G>C (p.Glu788Asp) c.642G>C (p.Glu214Asp) c.*434G>C (n.*434G>C) c.623G>C (n.623G>C) c.*93G>C (n.*93G>C) c.*284G>C (n.*284G>C) c.132G>C (p.Glu44Asp) n.310G>C c.1815G>C (p.Glu605Asp) c.702G>C (p.Glu234Asp) c.1797G>C (p.Glu599Asp) c.1512G>C (p.Glu504Asp) c.294G>C (p.Glu98Asp) n.742G>C | |
| 17 | g.63488706G= | CA2269945954 | ACE | c.2364G= (p.Glu788=) c.642G= (p.Glu214=) c.*434G= (n.*434G=) c.623G= (n.623G=) c.*93G= (n.*93G=) c.*284G= (n.*284G=) c.132G= (p.Glu44=) n.310G= c.1815G= (p.Glu605=) c.702G= (p.Glu234=) c.1797G= (p.Glu599=) c.1512G= (p.Glu504=) c.294G= (p.Glu98=) n.742G= | |
| 17 | g.63488706G>T | CA8700071 | ACE | c.2364G>T (p.Glu788Asp) c.642G>T (p.Glu214Asp) c.*434G>T (n.*434G>T) c.623G>T (n.623G>T) c.*93G>T (n.*93G>T) c.*284G>T (n.*284G>T) c.132G>T (p.Glu44Asp) n.310G>T c.1815G>T (p.Glu605Asp) c.702G>T (p.Glu234Asp) c.1797G>T (p.Glu599Asp) c.1512G>T (p.Glu504Asp) c.294G>T (p.Glu98Asp) n.742G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.63488707G>A | CA400557911 | ACE | c.2365G>A (p.Gly789Ser) c.643G>A (p.Gly215Ser) c.*435G>A (n.*435G>A) c.624G>A (n.624G>A) c.*94G>A (n.*94G>A) c.*285G>A (n.*285G>A) c.133G>A (p.Gly45Ser) n.311G>A c.1816G>A (p.Gly606Ser) c.703G>A (p.Gly235Ser) c.1798G>A (p.Gly600Ser) c.1513G>A (p.Gly505Ser) c.295G>A (p.Gly99Ser) n.743G>A | |
| 17 | g.63488707G>C | CA400557912 | ACE | c.2365G>C (p.Gly789Arg) c.643G>C (p.Gly215Arg) c.*435G>C (n.*435G>C) c.624G>C (n.624G>C) c.*94G>C (n.*94G>C) c.*285G>C (n.*285G>C) c.133G>C (p.Gly45Arg) n.311G>C c.1816G>C (p.Gly606Arg) c.703G>C (p.Gly235Arg) c.1798G>C (p.Gly600Arg) c.1513G>C (p.Gly505Arg) c.295G>C (p.Gly99Arg) n.743G>C | |
| 17 | g.63488707G>T | CA400557913 | ACE | c.2365G>T (p.Gly789Cys) c.643G>T (p.Gly215Cys) c.*435G>T (n.*435G>T) c.624G>T (n.624G>T) c.*94G>T (n.*94G>T) c.*285G>T (n.*285G>T) c.133G>T (p.Gly45Cys) n.311G>T c.1816G>T (p.Gly606Cys) c.703G>T (p.Gly235Cys) c.1798G>T (p.Gly600Cys) c.1513G>T (p.Gly505Cys) c.295G>T (p.Gly99Cys) n.743G>T | gnomAD v3 gnomAD v4 |
| 17 | g.63488708G>A | CA292883424 | ACE | c.2366G>A (p.Gly789Asp) c.644G>A (p.Gly215Asp) c.*436G>A (n.*436G>A) c.625G>A (n.625G>A) c.*95G>A (n.*95G>A) c.*286G>A (n.*286G>A) c.134G>A (p.Gly45Asp) n.312G>A c.1817G>A (p.Gly606Asp) c.704G>A (p.Gly235Asp) c.1799G>A (p.Gly600Asp) c.1514G>A (p.Gly505Asp) c.296G>A (p.Gly99Asp) n.744G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488708G>C | CA400557914 | ACE | c.2366G>C (p.Gly789Ala) c.644G>C (p.Gly215Ala) c.*436G>C (n.*436G>C) c.625G>C (n.625G>C) c.*95G>C (n.*95G>C) c.*286G>C (n.*286G>C) c.134G>C (p.Gly45Ala) n.312G>C c.1817G>C (p.Gly606Ala) c.704G>C (p.Gly235Ala) c.1799G>C (p.Gly600Ala) c.1514G>C (p.Gly505Ala) c.296G>C (p.Gly99Ala) n.744G>C | gnomAD v4 |
| 17 | g.63488708G= | CA2269945955 | ACE | c.2366G= (p.Gly789=) c.644G= (p.Gly215=) c.*436G= (n.*436G=) c.625G= (n.625G=) c.*95G= (n.*95G=) c.*286G= (n.*286G=) c.134G= (p.Gly45=) n.312G= c.1817G= (p.Gly606=) c.704G= (p.Gly235=) c.1799G= (p.Gly600=) c.1514G= (p.Gly505=) c.296G= (p.Gly99=) n.744G= | |
| 17 | g.63488708G>T | CA400557915 | ACE | c.2366G>T (p.Gly789Val) c.644G>T (p.Gly215Val) c.*436G>T (n.*436G>T) c.625G>T (n.625G>T) c.*95G>T (n.*95G>T) c.*286G>T (n.*286G>T) c.134G>T (p.Gly45Val) n.312G>T c.1817G>T (p.Gly606Val) c.704G>T (p.Gly235Val) c.1799G>T (p.Gly600Val) c.1514G>T (p.Gly505Val) c.296G>T (p.Gly99Val) n.744G>T | gnomAD v4 |
| 17 | g.63488709C>A | CA8700073 | ACE | c.2367C>A (p.Gly789=) c.645C>A (p.Gly215=) c.*437C>A (n.*437C>A) c.626C>A (n.626C>A) c.*96C>A (n.*96C>A) c.*287C>A (n.*287C>A) c.135C>A (p.Gly45=) n.313C>A c.1818C>A (p.Gly606=) c.705C>A (p.Gly235=) c.1800C>A (p.Gly600=) c.1515C>A (p.Gly505=) c.297C>A (p.Gly99=) n.745C>A | dbSNP ExAC gnomAD v2 |
| 17 | g.63488709C= | CA2269945956 | ACE | c.2367C= (p.Gly789=) c.645C= (p.Gly215=) c.*437C= (n.*437C=) c.626C= (n.626C=) c.*96C= (n.*96C=) c.*287C= (n.*287C=) c.135C= (p.Gly45=) n.313C= c.1818C= (p.Gly606=) c.705C= (p.Gly235=) c.1800C= (p.Gly600=) c.1515C= (p.Gly505=) c.297C= (p.Gly99=) n.745C= | |
| 17 | g.63488709C>G | CA8700074 | ACE | c.2367C>G (p.Gly789=) c.645C>G (p.Gly215=) c.*437C>G (n.*437C>G) c.626C>G (n.626C>G) c.*96C>G (n.*96C>G) c.*287C>G (n.*287C>G) c.135C>G (p.Gly45=) n.313C>G c.1818C>G (p.Gly606=) c.705C>G (p.Gly235=) c.1800C>G (p.Gly600=) c.1515C>G (p.Gly505=) c.297C>G (p.Gly99=) n.745C>G | dbSNP ExAC gnomAD v4 |
| 17 | g.63488709C>T | CA501186949 | ACE | c.2367C>T (p.Gly789=) c.645C>T (p.Gly215=) c.*437C>T (n.*437C>T) c.626C>T (n.626C>T) c.*96C>T (n.*96C>T) c.*287C>T (n.*287C>T) c.135C>T (p.Gly45=) n.313C>T c.1818C>T (p.Gly606=) c.705C>T (p.Gly235=) c.1800C>T (p.Gly600=) c.1515C>T (p.Gly505=) c.297C>T (p.Gly99=) n.745C>T | gnomAD v4 |
| 17 | g.63488710T>A | CA400557916 | ACE | c.2368T>A (p.Trp790Arg) c.646T>A (p.Trp216Arg) c.*438T>A (n.*438T>A) c.627T>A (n.627T>A) c.*97T>A (n.*97T>A) c.*288T>A (n.*288T>A) c.136T>A (p.Trp46Arg) n.314T>A c.1819T>A (p.Trp607Arg) c.706T>A (p.Trp236Arg) c.1801T>A (p.Trp601Arg) c.1516T>A (p.Trp506Arg) c.298T>A (p.Trp100Arg) n.746T>A | |
| 17 | g.63488710T>C | CA400557917 | ACE | c.2368T>C (p.Trp790Arg) c.646T>C (p.Trp216Arg) c.*438T>C (n.*438T>C) c.627T>C (n.627T>C) c.*97T>C (n.*97T>C) c.*288T>C (n.*288T>C) c.136T>C (p.Trp46Arg) n.314T>C c.1819T>C (p.Trp607Arg) c.706T>C (p.Trp236Arg) c.1801T>C (p.Trp601Arg) c.1516T>C (p.Trp506Arg) c.298T>C (p.Trp100Arg) n.746T>C | |
| 17 | g.63488710T>G | CA400557918 | ACE | c.2368T>G (p.Trp790Gly) c.646T>G (p.Trp216Gly) c.*438T>G (n.*438T>G) c.627T>G (n.627T>G) c.*97T>G (n.*97T>G) c.*288T>G (n.*288T>G) c.136T>G (p.Trp46Gly) n.314T>G c.1819T>G (p.Trp607Gly) c.706T>G (p.Trp236Gly) c.1801T>G (p.Trp601Gly) c.1516T>G (p.Trp506Gly) c.298T>G (p.Trp100Gly) n.746T>G | |
| 17 | g.63488711G>A | CA400557919 | ACE | c.2369G>A (p.Trp790Ter) c.647G>A (p.Trp216Ter) c.*439G>A (n.*439G>A) c.628G>A (n.628G>A) c.*98G>A (n.*98G>A) c.*289G>A (n.*289G>A) c.137G>A (p.Trp46Ter) n.315G>A c.1820G>A (p.Trp607Ter) c.707G>A (p.Trp236Ter) c.1802G>A (p.Trp601Ter) c.1517G>A (p.Trp506Ter) c.299G>A (p.Trp100Ter) n.747G>A | |
| 17 | g.63488711G>C | CA400557921 | ACE | c.2369G>C (p.Trp790Ser) c.647G>C (p.Trp216Ser) c.*439G>C (n.*439G>C) c.628G>C (n.628G>C) c.*98G>C (n.*98G>C) c.*289G>C (n.*289G>C) c.137G>C (p.Trp46Ser) n.315G>C c.1820G>C (p.Trp607Ser) c.707G>C (p.Trp236Ser) c.1802G>C (p.Trp601Ser) c.1517G>C (p.Trp506Ser) c.299G>C (p.Trp100Ser) n.747G>C | |
| 17 | g.63488711G>T | CA400557920 | ACE | c.2369G>T (p.Trp790Leu) c.647G>T (p.Trp216Leu) c.*439G>T (n.*439G>T) c.628G>T (n.628G>T) c.*98G>T (n.*98G>T) c.*289G>T (n.*289G>T) c.137G>T (p.Trp46Leu) n.315G>T c.1820G>T (p.Trp607Leu) c.707G>T (p.Trp236Leu) c.1802G>T (p.Trp601Leu) c.1517G>T (p.Trp506Leu) c.299G>T (p.Trp100Leu) n.747G>T | |
| 17 | g.63488712G>A | CA400557922 | ACE | c.2370G>A (p.Trp790Ter) c.648G>A (p.Trp216Ter) c.*440G>A (n.*440G>A) c.629G>A (n.629G>A) c.*99G>A (n.*99G>A) c.*290G>A (n.*290G>A) c.138G>A (p.Trp46Ter) n.316G>A c.1821G>A (p.Trp607Ter) c.708G>A (p.Trp236Ter) c.1803G>A (p.Trp601Ter) c.1518G>A (p.Trp506Ter) c.300G>A (p.Trp100Ter) n.748G>A | |
| 17 | g.63488712G>C | CA400557923 | ACE | c.2370G>C (p.Trp790Cys) c.648G>C (p.Trp216Cys) c.*440G>C (n.*440G>C) c.629G>C (n.629G>C) c.*99G>C (n.*99G>C) c.*290G>C (n.*290G>C) c.138G>C (p.Trp46Cys) n.316G>C c.1821G>C (p.Trp607Cys) c.708G>C (p.Trp236Cys) c.1803G>C (p.Trp601Cys) c.1518G>C (p.Trp506Cys) c.300G>C (p.Trp100Cys) n.748G>C | |
| 17 | g.63488712G>T | CA400557924 | ACE | c.2370G>T (p.Trp790Cys) c.648G>T (p.Trp216Cys) c.*440G>T (n.*440G>T) c.629G>T (n.629G>T) c.*99G>T (n.*99G>T) c.*290G>T (n.*290G>T) c.138G>T (p.Trp46Cys) n.316G>T c.1821G>T (p.Trp607Cys) c.708G>T (p.Trp236Cys) c.1803G>T (p.Trp601Cys) c.1518G>T (p.Trp506Cys) c.300G>T (p.Trp100Cys) n.748G>T | |
| 17 | g.63488713C>A | CA501186969 | ACE | c.2371C>A (p.Arg791=) c.649C>A (p.Arg217=) c.*441C>A (n.*441C>A) c.630C>A (n.630C>A) c.*100C>A (n.*100C>A) c.*291C>A (n.*291C>A) c.139C>A (p.Arg47=) n.317C>A c.1822C>A (p.Arg608=) c.709C>A (p.Arg237=) c.1804C>A (p.Arg602=) c.1519C>A (p.Arg507=) c.301C>A (p.Arg101=) n.749C>A | |
| 17 | g.63488713C= | CA2269945957 | ACE | c.2371C= (p.Arg791=) c.649C= (p.Arg217=) c.*441C= (n.*441C=) c.630C= (n.630C=) c.*100C= (n.*100C=) c.*291C= (n.*291C=) c.139C= (p.Arg47=) n.317C= c.1822C= (p.Arg608=) c.709C= (p.Arg237=) c.1804C= (p.Arg602=) c.1519C= (p.Arg507=) c.301C= (p.Arg101=) n.749C= | |
| 17 | g.63488713C>G | CA400557925 | ACE | c.2371C>G (p.Arg791Gly) c.649C>G (p.Arg217Gly) c.*441C>G (n.*441C>G) c.630C>G (n.630C>G) c.*100C>G (n.*100C>G) c.*291C>G (n.*291C>G) c.139C>G (p.Arg47Gly) n.317C>G c.1822C>G (p.Arg608Gly) c.709C>G (p.Arg237Gly) c.1804C>G (p.Arg602Gly) c.1519C>G (p.Arg507Gly) c.301C>G (p.Arg101Gly) n.749C>G | |
| 17 | g.63488713C>T | CA143701 | ACE | c.2371C>T (p.Arg791Ter) c.649C>T (p.Arg217Ter) c.*441C>T (n.*441C>T) c.630C>T (n.630C>T) c.*100C>T (n.*100C>T) c.*291C>T (n.*291C>T) c.139C>T (p.Arg47Ter) n.317C>T c.1822C>T (p.Arg608Ter) c.709C>T (p.Arg237Ter) c.1804C>T (p.Arg602Ter) c.1519C>T (p.Arg507Ter) c.301C>T (p.Arg101Ter) n.749C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.63488714G>A | CA8700075 | ACE | c.2372G>A (p.Arg791Gln) c.650G>A (p.Arg217Gln) c.*442G>A (n.*442G>A) c.631G>A (n.631G>A) c.*101G>A (n.*101G>A) c.*292G>A (n.*292G>A) c.140G>A (p.Arg47Gln) n.318G>A c.1823G>A (p.Arg608Gln) c.710G>A (p.Arg237Gln) c.1805G>A (p.Arg602Gln) c.1520G>A (p.Arg507Gln) c.302G>A (p.Arg101Gln) n.750G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.63488714G>C | CA400557926 | ACE | c.2372G>C (p.Arg791Pro) c.650G>C (p.Arg217Pro) c.*442G>C (n.*442G>C) c.631G>C (n.631G>C) c.*101G>C (n.*101G>C) c.*292G>C (n.*292G>C) c.140G>C (p.Arg47Pro) n.318G>C c.1823G>C (p.Arg608Pro) c.710G>C (p.Arg237Pro) c.1805G>C (p.Arg602Pro) c.1520G>C (p.Arg507Pro) c.302G>C (p.Arg101Pro) n.750G>C | |
| 17 | g.63488714G= | CA2269945958 | ACE | c.2372G= (p.Arg791=) c.650G= (p.Arg217=) c.*442G= (n.*442G=) c.631G= (n.631G=) c.*101G= (n.*101G=) c.*292G= (n.*292G=) c.140G= (p.Arg47=) n.318G= c.1823G= (p.Arg608=) c.710G= (p.Arg237=) c.1805G= (p.Arg602=) c.1520G= (p.Arg507=) c.302G= (p.Arg101=) n.750G= | |
| 17 | g.63488714G>T | CA400557927 | ACE | c.2372G>T (p.Arg791Leu) c.650G>T (p.Arg217Leu) c.*442G>T (n.*442G>T) c.631G>T (n.631G>T) c.*101G>T (n.*101G>T) c.*292G>T (n.*292G>T) c.140G>T (p.Arg47Leu) n.318G>T c.1823G>T (p.Arg608Leu) c.710G>T (p.Arg237Leu) c.1805G>T (p.Arg602Leu) c.1520G>T (p.Arg507Leu) c.302G>T (p.Arg101Leu) n.750G>T | |
| 17 | g.63488715A>C | CA501186980 | ACE | c.2373A>C (p.Arg791=) c.651A>C (p.Arg217=) c.*443A>C (n.*443A>C) c.632A>C (n.632A>C) c.*102A>C (n.*102A>C) c.*293A>C (n.*293A>C) c.141A>C (p.Arg47=) n.319A>C c.1824A>C (p.Arg608=) c.711A>C (p.Arg237=) c.1806A>C (p.Arg602=) c.1521A>C (p.Arg507=) c.303A>C (p.Arg101=) n.751A>C | |
| 17 | g.63488715A>G | CA501186984 | ACE | c.2373A>G (p.Arg791=) c.651A>G (p.Arg217=) c.*443A>G (n.*443A>G) c.632A>G (n.632A>G) c.*102A>G (n.*102A>G) c.*293A>G (n.*293A>G) c.141A>G (p.Arg47=) n.319A>G c.1824A>G (p.Arg608=) c.711A>G (p.Arg237=) c.1806A>G (p.Arg602=) c.1521A>G (p.Arg507=) c.303A>G (p.Arg101=) n.751A>G | |
| 17 | g.63488715A>T | CA501186987 | ACE | c.2373A>T (p.Arg791=) c.651A>T (p.Arg217=) c.*443A>T (n.*443A>T) c.632A>T (n.632A>T) c.*102A>T (n.*102A>T) c.*293A>T (n.*293A>T) c.141A>T (p.Arg47=) n.319A>T c.1824A>T (p.Arg608=) c.711A>T (p.Arg237=) c.1806A>T (p.Arg602=) c.1521A>T (p.Arg507=) c.303A>T (p.Arg101=) n.751A>T | |
| 17 | g.63488716G>A | CA400557928 | ACE | c.2374G>A (p.Asp792Asn) c.652G>A (p.Asp218Asn) c.*444G>A (n.*444G>A) c.633G>A (n.633G>A) c.*103G>A (n.*103G>A) c.*294G>A (n.*294G>A) c.142G>A (p.Asp48Asn) n.320G>A c.1825G>A (p.Asp609Asn) c.712G>A (p.Asp238Asn) c.1807G>A (p.Asp603Asn) c.1522G>A (p.Asp508Asn) c.304G>A (p.Asp102Asn) n.752G>A | gnomAD v4 |
| 17 | g.63488716G>C | CA400557929 | ACE | c.2374G>C (p.Asp792His) c.652G>C (p.Asp218His) c.*444G>C (n.*444G>C) c.633G>C (n.633G>C) c.*103G>C (n.*103G>C) c.*294G>C (n.*294G>C) c.142G>C (p.Asp48His) n.320G>C c.1825G>C (p.Asp609His) c.712G>C (p.Asp238His) c.1807G>C (p.Asp603His) c.1522G>C (p.Asp508His) c.304G>C (p.Asp102His) n.752G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63488716G= | CA2269945959 | ACE | c.2374G= (p.Asp792=) c.652G= (p.Asp218=) c.*444G= (n.*444G=) c.633G= (n.633G=) c.*103G= (n.*103G=) c.*294G= (n.*294G=) c.142G= (p.Asp48=) n.320G= c.1825G= (p.Asp609=) c.712G= (p.Asp238=) c.1807G= (p.Asp603=) c.1522G= (p.Asp508=) c.304G= (p.Asp102=) n.752G= | |
| 17 | g.63488716G>T | CA400557930 | ACE | c.2374G>T (p.Asp792Tyr) c.652G>T (p.Asp218Tyr) c.*444G>T (n.*444G>T) c.633G>T (n.633G>T) c.*103G>T (n.*103G>T) c.*294G>T (n.*294G>T) c.142G>T (p.Asp48Tyr) n.320G>T c.1825G>T (p.Asp609Tyr) c.712G>T (p.Asp238Tyr) c.1807G>T (p.Asp603Tyr) c.1522G>T (p.Asp508Tyr) c.304G>T (p.Asp102Tyr) n.752G>T | |
| 17 | g.63488717A>C | CA400557932 | ACE | c.2375A>C (p.Asp792Ala) c.653A>C (p.Asp218Ala) c.*445A>C (n.*445A>C) c.634A>C (n.634A>C) c.*104A>C (n.*104A>C) c.*295A>C (n.*295A>C) c.143A>C (p.Asp48Ala) n.321A>C c.1826A>C (p.Asp609Ala) c.713A>C (p.Asp238Ala) c.1808A>C (p.Asp603Ala) c.1523A>C (p.Asp508Ala) c.305A>C (p.Asp102Ala) n.753A>C | |
| 17 | g.63488717A>G | CA400557933 | ACE | c.2375A>G (p.Asp792Gly) c.653A>G (p.Asp218Gly) c.*445A>G (n.*445A>G) c.634A>G (n.634A>G) c.*104A>G (n.*104A>G) c.*295A>G (n.*295A>G) c.143A>G (p.Asp48Gly) n.321A>G c.1826A>G (p.Asp609Gly) c.713A>G (p.Asp238Gly) c.1808A>G (p.Asp603Gly) c.1523A>G (p.Asp508Gly) c.305A>G (p.Asp102Gly) n.753A>G | |
| 17 | g.63488717A>T | CA400557931 | ACE | c.2375A>T (p.Asp792Val) c.653A>T (p.Asp218Val) c.*445A>T (n.*445A>T) c.634A>T (n.634A>T) c.*104A>T (n.*104A>T) c.*295A>T (n.*295A>T) c.143A>T (p.Asp48Val) n.321A>T c.1826A>T (p.Asp609Val) c.713A>T (p.Asp238Val) c.1808A>T (p.Asp603Val) c.1523A>T (p.Asp508Val) c.305A>T (p.Asp102Val) n.753A>T | |
| 17 | g.63488718C>A | CA400557935 | ACE | c.2376C>A (p.Asp792Glu) c.654C>A (p.Asp218Glu) c.*446C>A (n.*446C>A) c.635C>A (n.635C>A) c.*105C>A (n.*105C>A) c.*296C>A (n.*296C>A) c.144C>A (p.Asp48Glu) n.322C>A c.1827C>A (p.Asp609Glu) c.714C>A (p.Asp238Glu) c.1809C>A (p.Asp603Glu) c.1524C>A (p.Asp508Glu) c.306C>A (p.Asp102Glu) n.754C>A | |
| 17 | g.63488718C= | CA2269945960 | ACE | c.2376C= (p.Asp792=) c.654C= (p.Asp218=) c.*446C= (n.*446C=) c.635C= (n.635C=) c.*105C= (n.*105C=) c.*296C= (n.*296C=) c.144C= (p.Asp48=) n.322C= c.1827C= (p.Asp609=) c.714C= (p.Asp238=) c.1809C= (p.Asp603=) c.1524C= (p.Asp508=) c.306C= (p.Asp102=) n.754C= | |
| 17 | g.63488718C>G | CA400557934 | ACE | c.2376C>G (p.Asp792Glu) c.654C>G (p.Asp218Glu) c.*446C>G (n.*446C>G) c.635C>G (n.635C>G) c.*105C>G (n.*105C>G) c.*296C>G (n.*296C>G) c.144C>G (p.Asp48Glu) n.322C>G c.1827C>G (p.Asp609Glu) c.714C>G (p.Asp238Glu) c.1809C>G (p.Asp603Glu) c.1524C>G (p.Asp508Glu) c.306C>G (p.Asp102Glu) n.754C>G | gnomAD v4 |
| 17 | g.63488718C>T | CA8700076 | ACE | c.2376C>T (p.Asp792=) c.654C>T (p.Asp218=) c.*446C>T (n.*446C>T) c.635C>T (n.635C>T) c.*105C>T (n.*105C>T) c.*296C>T (n.*296C>T) c.144C>T (p.Asp48=) n.322C>T c.1827C>T (p.Asp609=) c.714C>T (p.Asp238=) c.1809C>T (p.Asp603=) c.1524C>T (p.Asp508=) c.306C>T (p.Asp102=) n.754C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63488719A>C | CA400557936 | ACE | c.2377A>C (p.Lys793Gln) c.655A>C (p.Lys219Gln) c.*447A>C (n.*447A>C) c.636A>C (n.636A>C) c.*106A>C (n.*106A>C) c.*297A>C (n.*297A>C) c.145A>C (p.Lys49Gln) n.323A>C c.1828A>C (p.Lys610Gln) c.715A>C (p.Lys239Gln) c.1810A>C (p.Lys604Gln) c.1525A>C (p.Lys509Gln) c.307A>C (p.Lys103Gln) n.755A>C | |
| 17 | g.63488719A>G | CA400557938 | ACE | c.2377A>G (p.Lys793Glu) c.655A>G (p.Lys219Glu) c.*447A>G (n.*447A>G) c.636A>G (n.636A>G) c.*106A>G (n.*106A>G) c.*297A>G (n.*297A>G) c.145A>G (p.Lys49Glu) n.323A>G c.1828A>G (p.Lys610Glu) c.715A>G (p.Lys239Glu) c.1810A>G (p.Lys604Glu) c.1525A>G (p.Lys509Glu) c.307A>G (p.Lys103Glu) n.755A>G | |
| 17 | g.63488719A>T | CA400557937 | ACE | c.2377A>T (p.Lys793Ter) c.655A>T (p.Lys219Ter) c.*447A>T (n.*447A>T) c.636A>T (n.636A>T) c.*106A>T (n.*106A>T) c.*297A>T (n.*297A>T) c.145A>T (p.Lys49Ter) n.323A>T c.1828A>T (p.Lys610Ter) c.715A>T (p.Lys239Ter) c.1810A>T (p.Lys604Ter) c.1525A>T (p.Lys509Ter) c.307A>T (p.Lys103Ter) n.755A>T | |
| 17 | g.63488720A= | CA2269945961 | ACE | c.2378A= (p.Lys793=) c.656A= (p.Lys219=) c.*448A= (n.*448A=) c.637A= (n.637A=) c.*107A= (n.*107A=) c.*298A= (n.*298A=) c.146A= (p.Lys49=) n.324A= c.1829A= (p.Lys610=) c.716A= (p.Lys239=) c.1811A= (p.Lys604=) c.1526A= (p.Lys509=) c.308A= (p.Lys103=) n.756A= | |
| 17 | g.63488720A>C | CA8700077 | ACE | c.2378A>C (p.Lys793Thr) c.656A>C (p.Lys219Thr) c.*448A>C (n.*448A>C) c.637A>C (n.637A>C) c.*107A>C (n.*107A>C) c.*298A>C (n.*298A>C) c.146A>C (p.Lys49Thr) n.324A>C c.1829A>C (p.Lys610Thr) c.716A>C (p.Lys239Thr) c.1811A>C (p.Lys604Thr) c.1526A>C (p.Lys509Thr) c.308A>C (p.Lys103Thr) n.756A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488720A>G | CA400557939 | ACE | c.2378A>G (p.Lys793Arg) c.656A>G (p.Lys219Arg) c.*448A>G (n.*448A>G) c.637A>G (n.637A>G) c.*107A>G (n.*107A>G) c.*298A>G (n.*298A>G) c.146A>G (p.Lys49Arg) n.324A>G c.1829A>G (p.Lys610Arg) c.716A>G (p.Lys239Arg) c.1811A>G (p.Lys604Arg) c.1526A>G (p.Lys509Arg) c.308A>G (p.Lys103Arg) n.756A>G | |
| 17 | g.63488720A>T | CA400557940 | ACE | c.2378A>T (p.Lys793Met) c.656A>T (p.Lys219Met) c.*448A>T (n.*448A>T) c.637A>T (n.637A>T) c.*107A>T (n.*107A>T) c.*298A>T (n.*298A>T) c.146A>T (p.Lys49Met) n.324A>T c.1829A>T (p.Lys610Met) c.716A>T (p.Lys239Met) c.1811A>T (p.Lys604Met) c.1526A>T (p.Lys509Met) c.308A>T (p.Lys103Met) n.756A>T | dbSNP |
| 17 | g.63488721G>A | CA501187043 | ACE | c.2379G>A (p.Lys793=) c.657G>A (p.Lys219=) c.*449G>A (n.*449G>A) c.638G>A (n.638G>A) c.*108G>A (n.*108G>A) c.*299G>A (n.*299G>A) c.147G>A (p.Lys49=) n.325G>A c.1830G>A (p.Lys610=) c.717G>A (p.Lys239=) c.1812G>A (p.Lys604=) c.1527G>A (p.Lys509=) c.309G>A (p.Lys103=) n.757G>A | |
| 17 | g.63488721G>C | CA400557941 | ACE | c.2379G>C (p.Lys793Asn) c.657G>C (p.Lys219Asn) c.*449G>C (n.*449G>C) c.638G>C (n.638G>C) c.*108G>C (n.*108G>C) c.*299G>C (n.*299G>C) c.147G>C (p.Lys49Asn) n.325G>C c.1830G>C (p.Lys610Asn) c.717G>C (p.Lys239Asn) c.1812G>C (p.Lys604Asn) c.1527G>C (p.Lys509Asn) c.309G>C (p.Lys103Asn) n.757G>C | |
| 17 | g.63488721G>T | CA400557942 | ACE | c.2379G>T (p.Lys793Asn) c.657G>T (p.Lys219Asn) c.*449G>T (n.*449G>T) c.638G>T (n.638G>T) c.*108G>T (n.*108G>T) c.*299G>T (n.*299G>T) c.147G>T (p.Lys49Asn) n.325G>T c.1830G>T (p.Lys610Asn) c.717G>T (p.Lys239Asn) c.1812G>T (p.Lys604Asn) c.1527G>T (p.Lys509Asn) c.309G>T (p.Lys103Asn) n.757G>T | |
| 17 | g.63488722G>A | CA8700078 | ACE | c.2380G>A (p.Ala794Thr) c.658G>A (p.Ala220Thr) c.*450G>A (n.*450G>A) c.639G>A (n.639G>A) c.*109G>A (n.*109G>A) c.*300G>A (n.*300G>A) c.148G>A (p.Ala50Thr) n.326G>A c.1831G>A (p.Ala611Thr) c.718G>A (p.Ala240Thr) c.1813G>A (p.Ala605Thr) c.1528G>A (p.Ala510Thr) c.310G>A (p.Ala104Thr) n.758G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63488722G>C | CA400557943 | ACE | c.2380G>C (p.Ala794Pro) c.658G>C (p.Ala220Pro) c.*450G>C (n.*450G>C) c.639G>C (n.639G>C) c.*109G>C (n.*109G>C) c.*300G>C (n.*300G>C) c.148G>C (p.Ala50Pro) n.326G>C c.1831G>C (p.Ala611Pro) c.718G>C (p.Ala240Pro) c.1813G>C (p.Ala605Pro) c.1528G>C (p.Ala510Pro) c.310G>C (p.Ala104Pro) n.758G>C | |
| 17 | g.63488722G= | CA2269945962 | ACE | c.2380G= (p.Ala794=) c.658G= (p.Ala220=) c.*450G= (n.*450G=) c.639G= (n.639G=) c.*109G= (n.*109G=) c.*300G= (n.*300G=) c.148G= (p.Ala50=) n.326G= c.1831G= (p.Ala611=) c.718G= (p.Ala240=) c.1813G= (p.Ala605=) c.1528G= (p.Ala510=) c.310G= (p.Ala104=) n.758G= | |
| 17 | g.63488722G>T | CA400557944 | ACE | c.2380G>T (p.Ala794Ser) c.658G>T (p.Ala220Ser) c.*450G>T (n.*450G>T) c.639G>T (n.639G>T) c.*109G>T (n.*109G>T) c.*300G>T (n.*300G>T) c.148G>T (p.Ala50Ser) n.326G>T c.1831G>T (p.Ala611Ser) c.718G>T (p.Ala240Ser) c.1813G>T (p.Ala605Ser) c.1528G>T (p.Ala510Ser) c.310G>T (p.Ala104Ser) n.758G>T | |
| 17 | g.63488723C>A | CA400557945 | ACE | c.2381C>A (p.Ala794Glu) c.659C>A (p.Ala220Glu) c.*451C>A (n.*451C>A) c.640C>A (n.640C>A) c.*110C>A (n.*110C>A) c.*301C>A (n.*301C>A) c.149C>A (p.Ala50Glu) n.327C>A c.1832C>A (p.Ala611Glu) c.719C>A (p.Ala240Glu) c.1814C>A (p.Ala605Glu) c.1529C>A (p.Ala510Glu) c.311C>A (p.Ala104Glu) n.759C>A | |
| 17 | g.63488723C= | CA2269945963 | ACE | c.2381C= (p.Ala794=) c.659C= (p.Ala220=) c.*451C= (n.*451C=) c.640C= (n.640C=) c.*110C= (n.*110C=) c.*301C= (n.*301C=) c.149C= (p.Ala50=) n.327C= c.1832C= (p.Ala611=) c.719C= (p.Ala240=) c.1814C= (p.Ala605=) c.1529C= (p.Ala510=) c.311C= (p.Ala104=) n.759C= | |
| 17 | g.63488723C>G | CA400557946 | ACE | c.2381C>G (p.Ala794Gly) c.659C>G (p.Ala220Gly) c.*451C>G (n.*451C>G) c.640C>G (n.640C>G) c.*110C>G (n.*110C>G) c.*301C>G (n.*301C>G) c.149C>G (p.Ala50Gly) n.327C>G c.1832C>G (p.Ala611Gly) c.719C>G (p.Ala240Gly) c.1814C>G (p.Ala605Gly) c.1529C>G (p.Ala510Gly) c.311C>G (p.Ala104Gly) n.759C>G | |
| 17 | g.63488723C>T | CA8700079 | ACE | c.2381C>T (p.Ala794Val) c.659C>T (p.Ala220Val) c.*451C>T (n.*451C>T) c.640C>T (n.640C>T) c.*110C>T (n.*110C>T) c.*301C>T (n.*301C>T) c.149C>T (p.Ala50Val) n.327C>T c.1832C>T (p.Ala611Val) c.719C>T (p.Ala240Val) c.1814C>T (p.Ala605Val) c.1529C>T (p.Ala510Val) c.311C>T (p.Ala104Val) n.759C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.63488724G>A | CA8700080 | ACE | c.2382G>A (p.Ala794=) c.660G>A (p.Ala220=) c.*452G>A (n.*452G>A) c.641G>A (n.641G>A) c.*111G>A (n.*111G>A) c.*302G>A (n.*302G>A) c.150G>A (p.Ala50=) n.328G>A c.1833G>A (p.Ala611=) c.720G>A (p.Ala240=) c.1815G>A (p.Ala605=) c.1530G>A (p.Ala510=) c.312G>A (p.Ala104=) n.760G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488724G>C | CA8700081 | ACE | c.2382G>C (p.Ala794=) c.660G>C (p.Ala220=) c.*452G>C (n.*452G>C) c.641G>C (n.641G>C) c.*111G>C (n.*111G>C) c.*302G>C (n.*302G>C) c.150G>C (p.Ala50=) n.328G>C c.1833G>C (p.Ala611=) c.720G>C (p.Ala240=) c.1815G>C (p.Ala605=) c.1530G>C (p.Ala510=) c.312G>C (p.Ala104=) n.760G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63488724G= | CA2269945964 | ACE | c.2382G= (p.Ala794=) c.660G= (p.Ala220=) c.*452G= (n.*452G=) c.641G= (n.641G=) c.*111G= (n.*111G=) c.*302G= (n.*302G=) c.150G= (p.Ala50=) n.328G= c.1833G= (p.Ala611=) c.720G= (p.Ala240=) c.1815G= (p.Ala605=) c.1530G= (p.Ala510=) c.312G= (p.Ala104=) n.760G= | |
| 17 | g.63488724G>T | CA501187063 | ACE | c.2382G>T (p.Ala794=) c.660G>T (p.Ala220=) c.*452G>T (n.*452G>T) c.641G>T (n.641G>T) c.*111G>T (n.*111G>T) c.*302G>T (n.*302G>T) c.150G>T (p.Ala50=) n.328G>T c.1833G>T (p.Ala611=) c.720G>T (p.Ala240=) c.1815G>T (p.Ala605=) c.1530G>T (p.Ala510=) c.312G>T (p.Ala104=) n.760G>T | |
| 17 | g.63488725G>A | CA400557947 | ACE | c.2383G>A (p.Gly795Arg) c.661G>A (p.Gly221Arg) c.*453G>A (n.*453G>A) c.642G>A (n.642G>A) c.*112G>A (n.*112G>A) c.*303G>A (n.*303G>A) c.151G>A (p.Gly51Arg) n.329G>A c.1834G>A (p.Gly612Arg) c.721G>A (p.Gly241Arg) c.1816G>A (p.Gly606Arg) c.1531G>A (p.Gly511Arg) c.313G>A (p.Gly105Arg) n.761G>A | dbSNP gnomAD v4 |
| 17 | g.63488725G>C | CA400557948 | ACE | c.2383G>C (p.Gly795Arg) c.661G>C (p.Gly221Arg) c.*453G>C (n.*453G>C) c.642G>C (n.642G>C) c.*112G>C (n.*112G>C) c.*303G>C (n.*303G>C) c.151G>C (p.Gly51Arg) n.329G>C c.1834G>C (p.Gly612Arg) c.721G>C (p.Gly241Arg) c.1816G>C (p.Gly606Arg) c.1531G>C (p.Gly511Arg) c.313G>C (p.Gly105Arg) n.761G>C | |
| 17 | g.63488725G= | CA2269945965 | ACE | c.2383G= (p.Gly795=) c.661G= (p.Gly221=) c.*453G= (n.*453G=) c.642G= (n.642G=) c.*112G= (n.*112G=) c.*303G= (n.*303G=) c.151G= (p.Gly51=) n.329G= c.1834G= (p.Gly612=) c.721G= (p.Gly241=) c.1816G= (p.Gly606=) c.1531G= (p.Gly511=) c.313G= (p.Gly105=) n.761G= | |
| 17 | g.63488725G>T | CA400557949 | ACE | c.2383G>T (p.Gly795Trp) c.661G>T (p.Gly221Trp) c.*453G>T (n.*453G>T) c.642G>T (n.642G>T) c.*112G>T (n.*112G>T) c.*303G>T (n.*303G>T) c.151G>T (p.Gly51Trp) n.329G>T c.1834G>T (p.Gly612Trp) c.721G>T (p.Gly241Trp) c.1816G>T (p.Gly606Trp) c.1531G>T (p.Gly511Trp) c.313G>T (p.Gly105Trp) n.761G>T | |
| 17 | g.63488726G>A | CA400557950 | ACE | c.2384G>A (p.Gly795Glu) c.662G>A (p.Gly221Glu) c.*454G>A (n.*454G>A) c.643G>A (n.643G>A) c.*113G>A (n.*113G>A) c.*304G>A (n.*304G>A) c.152G>A (p.Gly51Glu) n.330G>A c.1835G>A (p.Gly612Glu) c.722G>A (p.Gly241Glu) c.1817G>A (p.Gly606Glu) c.1532G>A (p.Gly511Glu) c.314G>A (p.Gly105Glu) n.762G>A | COSMIC COSMIC COSMIC |
| 17 | g.63488726G>C | CA400557952 | ACE | c.2384G>C (p.Gly795Ala) c.662G>C (p.Gly221Ala) c.*454G>C (n.*454G>C) c.643G>C (n.643G>C) c.*113G>C (n.*113G>C) c.*304G>C (n.*304G>C) c.152G>C (p.Gly51Ala) n.330G>C c.1835G>C (p.Gly612Ala) c.722G>C (p.Gly241Ala) c.1817G>C (p.Gly606Ala) c.1532G>C (p.Gly511Ala) c.314G>C (p.Gly105Ala) n.762G>C | |
| 17 | g.63488726G>T | CA400557951 | ACE | c.2384G>T (p.Gly795Val) c.662G>T (p.Gly221Val) c.*454G>T (n.*454G>T) c.643G>T (n.643G>T) c.*113G>T (n.*113G>T) c.*304G>T (n.*304G>T) c.152G>T (p.Gly51Val) n.330G>T c.1835G>T (p.Gly612Val) c.722G>T (p.Gly241Val) c.1817G>T (p.Gly606Val) c.1532G>T (p.Gly511Val) c.314G>T (p.Gly105Val) n.762G>T | |
| 17 | g.63488727G>A | CA501187089 | ACE | c.2385G>A (p.Gly795=) c.663G>A (p.Gly221=) c.*455G>A (n.*455G>A) c.644G>A (n.644G>A) c.*114G>A (n.*114G>A) c.*305G>A (n.*305G>A) c.153G>A (p.Gly51=) n.331G>A c.1836G>A (p.Gly612=) c.723G>A (p.Gly241=) c.1818G>A (p.Gly606=) c.1533G>A (p.Gly511=) c.315G>A (p.Gly105=) n.763G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63488727G>C | CA501187097 | ACE | c.2385G>C (p.Gly795=) c.663G>C (p.Gly221=) c.*455G>C (n.*455G>C) c.644G>C (n.644G>C) c.*114G>C (n.*114G>C) c.*305G>C (n.*305G>C) c.153G>C (p.Gly51=) n.331G>C c.1836G>C (p.Gly612=) c.723G>C (p.Gly241=) c.1818G>C (p.Gly606=) c.1533G>C (p.Gly511=) c.315G>C (p.Gly105=) n.763G>C | |
| 17 | g.63488727G= | CA2269945966 | ACE | c.2385G= (p.Gly795=) c.663G= (p.Gly221=) c.*455G= (n.*455G=) c.644G= (n.644G=) c.*114G= (n.*114G=) c.*305G= (n.*305G=) c.153G= (p.Gly51=) n.331G= c.1836G= (p.Gly612=) c.723G= (p.Gly241=) c.1818G= (p.Gly606=) c.1533G= (p.Gly511=) c.315G= (p.Gly105=) n.763G= | |
| 17 | g.63488727G>T | CA501187091 | ACE | c.2385G>T (p.Gly795=) c.663G>T (p.Gly221=) c.*455G>T (n.*455G>T) c.644G>T (n.644G>T) c.*114G>T (n.*114G>T) c.*305G>T (n.*305G>T) c.153G>T (p.Gly51=) n.331G>T c.1836G>T (p.Gly612=) c.723G>T (p.Gly241=) c.1818G>T (p.Gly606=) c.1533G>T (p.Gly511=) c.315G>T (p.Gly105=) n.763G>T | |
| 17 | g.63488728A>C | CA501187102 | ACE | c.2386A>C (p.Arg796=) c.664A>C (p.Arg222=) c.*456A>C (n.*456A>C) c.645A>C (n.645A>C) c.*115A>C (n.*115A>C) c.*306A>C (n.*306A>C) c.154A>C (p.Arg52=) n.332A>C c.1837A>C (p.Arg613=) c.724A>C (p.Arg242=) c.1819A>C (p.Arg607=) c.1534A>C (p.Arg512=) c.316A>C (p.Arg106=) n.764A>C | |
| 17 | g.63488728A>G | CA400557953 | ACE | c.2386A>G (p.Arg796Gly) c.664A>G (p.Arg222Gly) c.*456A>G (n.*456A>G) c.645A>G (n.645A>G) c.*115A>G (n.*115A>G) c.*306A>G (n.*306A>G) c.154A>G (p.Arg52Gly) n.332A>G c.1837A>G (p.Arg613Gly) c.724A>G (p.Arg242Gly) c.1819A>G (p.Arg607Gly) c.1534A>G (p.Arg512Gly) c.316A>G (p.Arg106Gly) n.764A>G | |
| 17 | g.63488728A>T | CA400557954 | ACE | c.2386A>T (p.Arg796Ter) c.664A>T (p.Arg222Ter) c.*456A>T (n.*456A>T) c.645A>T (n.645A>T) c.*115A>T (n.*115A>T) c.*306A>T (n.*306A>T) c.154A>T (p.Arg52Ter) n.332A>T c.1837A>T (p.Arg613Ter) c.724A>T (p.Arg242Ter) c.1819A>T (p.Arg607Ter) c.1534A>T (p.Arg512Ter) c.316A>T (p.Arg106Ter) n.764A>T | |
| 17 | g.63488729G>A | CA400557955 | ACE | c.2387G>A (p.Arg796Lys) c.665G>A (p.Arg222Lys) c.*457G>A (n.*457G>A) c.646G>A (n.646G>A) c.*116G>A (n.*116G>A) c.*307G>A (n.*307G>A) c.155G>A (p.Arg52Lys) n.333G>A c.1838G>A (p.Arg613Lys) c.725G>A (p.Arg242Lys) c.1820G>A (p.Arg607Lys) c.1535G>A (p.Arg512Lys) c.317G>A (p.Arg106Lys) n.765G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63488729G>C | CA400557956 | ACE | c.2387G>C (p.Arg796Thr) c.665G>C (p.Arg222Thr) c.*457G>C (n.*457G>C) c.646G>C (n.646G>C) c.*116G>C (n.*116G>C) c.*307G>C (n.*307G>C) c.155G>C (p.Arg52Thr) n.333G>C c.1838G>C (p.Arg613Thr) c.725G>C (p.Arg242Thr) c.1820G>C (p.Arg607Thr) c.1535G>C (p.Arg512Thr) c.317G>C (p.Arg106Thr) n.765G>C | gnomAD v4 COSMIC COSMIC |
| 17 | g.63488729G= | CA2269945967 | ACE | c.2387G= (p.Arg796=) c.665G= (p.Arg222=) c.*457G= (n.*457G=) c.646G= (n.646G=) c.*116G= (n.*116G=) c.*307G= (n.*307G=) c.155G= (p.Arg52=) n.333G= c.1838G= (p.Arg613=) c.725G= (p.Arg242=) c.1820G= (p.Arg607=) c.1535G= (p.Arg512=) c.317G= (p.Arg106=) n.765G= | |
| 17 | g.63488729G>T | CA400557957 | ACE | c.2387G>T (p.Arg796Ile) c.665G>T (p.Arg222Ile) c.*457G>T (n.*457G>T) c.646G>T (n.646G>T) c.*116G>T (n.*116G>T) c.*307G>T (n.*307G>T) c.155G>T (p.Arg52Ile) n.333G>T c.1838G>T (p.Arg613Ile) c.725G>T (p.Arg242Ile) c.1820G>T (p.Arg607Ile) c.1535G>T (p.Arg512Ile) c.317G>T (p.Arg106Ile) n.765G>T | |
| 17 | g.63488730A>C | CA400557958 | ACE | c.2388A>C (p.Arg796Ser) c.666A>C (p.Arg222Ser) c.*458A>C (n.*458A>C) c.647A>C (n.647A>C) c.*117A>C (n.*117A>C) c.*308A>C (n.*308A>C) c.156A>C (p.Arg52Ser) n.334A>C c.1839A>C (p.Arg613Ser) c.726A>C (p.Arg242Ser) c.1821A>C (p.Arg607Ser) c.1536A>C (p.Arg512Ser) c.318A>C (p.Arg106Ser) n.766A>C | |
| 17 | g.63488730A>G | CA501187125 | ACE | c.2388A>G (p.Arg796=) c.666A>G (p.Arg222=) c.*458A>G (n.*458A>G) c.647A>G (n.647A>G) c.*117A>G (n.*117A>G) c.*308A>G (n.*308A>G) c.156A>G (p.Arg52=) n.334A>G c.1839A>G (p.Arg613=) c.726A>G (p.Arg242=) c.1821A>G (p.Arg607=) c.1536A>G (p.Arg512=) c.318A>G (p.Arg106=) n.766A>G | |
| 17 | g.63488730A>T | CA400557959 | ACE | c.2388A>T (p.Arg796Ser) c.666A>T (p.Arg222Ser) c.*458A>T (n.*458A>T) c.647A>T (n.647A>T) c.*117A>T (n.*117A>T) c.*308A>T (n.*308A>T) c.156A>T (p.Arg52Ser) n.334A>T c.1839A>T (p.Arg613Ser) c.726A>T (p.Arg242Ser) c.1821A>T (p.Arg607Ser) c.1536A>T (p.Arg512Ser) c.318A>T (p.Arg106Ser) n.766A>T | |
| 17 | g.63488731G>A | CA400557960 | ACE | c.2389G>A (p.Ala797Thr) c.667G>A (p.Ala223Thr) c.*459G>A (n.*459G>A) c.648G>A (n.648G>A) c.*118G>A (n.*118G>A) c.*309G>A (n.*309G>A) c.157G>A (p.Ala53Thr) n.335G>A c.1840G>A (p.Ala614Thr) c.727G>A (p.Ala243Thr) c.1822G>A (p.Ala608Thr) c.1537G>A (p.Ala513Thr) c.319G>A (p.Ala107Thr) n.767G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63488731G>C | CA400557961 | ACE | c.2389G>C (p.Ala797Pro) c.667G>C (p.Ala223Pro) c.*459G>C (n.*459G>C) c.648G>C (n.648G>C) c.*118G>C (n.*118G>C) c.*309G>C (n.*309G>C) c.157G>C (p.Ala53Pro) n.335G>C c.1840G>C (p.Ala614Pro) c.727G>C (p.Ala243Pro) c.1822G>C (p.Ala608Pro) c.1537G>C (p.Ala513Pro) c.319G>C (p.Ala107Pro) n.767G>C | |
| 17 | g.63488731G= | CA2269945968 | ACE | c.2389G= (p.Ala797=) c.667G= (p.Ala223=) c.*459G= (n.*459G=) c.648G= (n.648G=) c.*118G= (n.*118G=) c.*309G= (n.*309G=) c.157G= (p.Ala53=) n.335G= c.1840G= (p.Ala614=) c.727G= (p.Ala243=) c.1822G= (p.Ala608=) c.1537G= (p.Ala513=) c.319G= (p.Ala107=) n.767G= | |
| 17 | g.63488731G>T | CA400557962 | ACE | c.2389G>T (p.Ala797Ser) c.667G>T (p.Ala223Ser) c.*459G>T (n.*459G>T) c.648G>T (n.648G>T) c.*118G>T (n.*118G>T) c.*309G>T (n.*309G>T) c.157G>T (p.Ala53Ser) n.335G>T c.1840G>T (p.Ala614Ser) c.727G>T (p.Ala243Ser) c.1822G>T (p.Ala608Ser) c.1537G>T (p.Ala513Ser) c.319G>T (p.Ala107Ser) n.767G>T | gnomAD v4 |
| 17 | g.63488732C>A | CA400557963 | ACE | c.2390C>A (p.Ala797Asp) c.668C>A (p.Ala223Asp) c.*460C>A (n.*460C>A) c.649C>A (n.649C>A) c.*119C>A (n.*119C>A) c.*310C>A (n.*310C>A) c.158C>A (p.Ala53Asp) n.336C>A c.1841C>A (p.Ala614Asp) c.728C>A (p.Ala243Asp) c.1823C>A (p.Ala608Asp) c.1538C>A (p.Ala513Asp) c.320C>A (p.Ala107Asp) n.768C>A | |
| 17 | g.63488732C= | CA2269945969 | ACE | c.2390C= (p.Ala797=) c.668C= (p.Ala223=) c.*460C= (n.*460C=) c.649C= (n.649C=) c.*119C= (n.*119C=) c.*310C= (n.*310C=) c.158C= (p.Ala53=) n.336C= c.1841C= (p.Ala614=) c.728C= (p.Ala243=) c.1823C= (p.Ala608=) c.1538C= (p.Ala513=) c.320C= (p.Ala107=) n.768C= | |
| 17 | g.63488732C>G | CA400557964 | ACE | c.2390C>G (p.Ala797Gly) c.668C>G (p.Ala223Gly) c.*460C>G (n.*460C>G) c.649C>G (n.649C>G) c.*119C>G (n.*119C>G) c.*310C>G (n.*310C>G) c.158C>G (p.Ala53Gly) n.336C>G c.1841C>G (p.Ala614Gly) c.728C>G (p.Ala243Gly) c.1823C>G (p.Ala608Gly) c.1538C>G (p.Ala513Gly) c.320C>G (p.Ala107Gly) n.768C>G | |
| 17 | g.63488732C>T | CA400557965 | ACE | c.2390C>T (p.Ala797Val) c.668C>T (p.Ala223Val) c.*460C>T (n.*460C>T) c.649C>T (n.649C>T) c.*119C>T (n.*119C>T) c.*310C>T (n.*310C>T) c.158C>T (p.Ala53Val) n.336C>T c.1841C>T (p.Ala614Val) c.728C>T (p.Ala243Val) c.1823C>T (p.Ala608Val) c.1538C>T (p.Ala513Val) c.320C>T (p.Ala107Val) n.768C>T | dbSNP gnomAD v4 |
| 17 | g.63488733C>A | CA501187148 | ACE | c.2391C>A (p.Ala797=) c.669C>A (p.Ala223=) c.*461C>A (n.*461C>A) c.650C>A (n.650C>A) c.*120C>A (n.*120C>A) c.*311C>A (n.*311C>A) c.159C>A (p.Ala53=) n.337C>A c.1842C>A (p.Ala614=) c.729C>A (p.Ala243=) c.1824C>A (p.Ala608=) c.1539C>A (p.Ala513=) c.321C>A (p.Ala107=) n.769C>A | |
| 17 | g.63488733C>G | CA501187149 | ACE | c.2391C>G (p.Ala797=) c.669C>G (p.Ala223=) c.*461C>G (n.*461C>G) c.650C>G (n.650C>G) c.*120C>G (n.*120C>G) c.*311C>G (n.*311C>G) c.159C>G (p.Ala53=) n.337C>G c.1842C>G (p.Ala614=) c.729C>G (p.Ala243=) c.1824C>G (p.Ala608=) c.1539C>G (p.Ala513=) c.321C>G (p.Ala107=) n.769C>G | |
| 17 | g.63488733C>T | CA501187151 | ACE | c.2391C>T (p.Ala797=) c.669C>T (p.Ala223=) c.*461C>T (n.*461C>T) c.650C>T (n.650C>T) c.*120C>T (n.*120C>T) c.*311C>T (n.*311C>T) c.159C>T (p.Ala53=) n.337C>T c.1842C>T (p.Ala614=) c.729C>T (p.Ala243=) c.1824C>T (p.Ala608=) c.1539C>T (p.Ala513=) c.321C>T (p.Ala107=) n.769C>T | |
| 17 | g.63488734A= | CA2269945970 | ACE | c.2392A= (p.Ile798=) c.670A= (p.Ile224=) c.*462A= (n.*462A=) c.651A= (n.651A=) c.*121A= (n.*121A=) c.*312A= (n.*312A=) c.160A= (p.Ile54=) n.338A= c.1843A= (p.Ile615=) c.730A= (p.Ile244=) c.1825A= (p.Ile609=) c.1540A= (p.Ile514=) c.322A= (p.Ile108=) n.770A= | |
| 17 | g.63488734A>C | CA400557966 | ACE | c.2392A>C (p.Ile798Leu) c.670A>C (p.Ile224Leu) c.*462A>C (n.*462A>C) c.651A>C (n.651A>C) c.*121A>C (n.*121A>C) c.*312A>C (n.*312A>C) c.160A>C (p.Ile54Leu) n.338A>C c.1843A>C (p.Ile615Leu) c.730A>C (p.Ile244Leu) c.1825A>C (p.Ile609Leu) c.1540A>C (p.Ile514Leu) c.322A>C (p.Ile108Leu) n.770A>C | dbSNP |
| 17 | g.63488734A>G | CA8700082 | ACE | c.2392A>G (p.Ile798Val) c.670A>G (p.Ile224Val) c.*462A>G (n.*462A>G) c.651A>G (n.651A>G) c.*121A>G (n.*121A>G) c.*312A>G (n.*312A>G) c.160A>G (p.Ile54Val) n.338A>G c.1843A>G (p.Ile615Val) c.730A>G (p.Ile244Val) c.1825A>G (p.Ile609Val) c.1540A>G (p.Ile514Val) c.322A>G (p.Ile108Val) n.770A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488734A>T | CA400557967 | ACE | c.2392A>T (p.Ile798Phe) c.670A>T (p.Ile224Phe) c.*462A>T (n.*462A>T) c.651A>T (n.651A>T) c.*121A>T (n.*121A>T) c.*312A>T (n.*312A>T) c.160A>T (p.Ile54Phe) n.338A>T c.1843A>T (p.Ile615Phe) c.730A>T (p.Ile244Phe) c.1825A>T (p.Ile609Phe) c.1540A>T (p.Ile514Phe) c.322A>T (p.Ile108Phe) n.770A>T | gnomAD v4 |
| 17 | g.63488734_63488737delinsATCC | CA2269945971 | ACE | c.2392_2395delinsATCC (p.Ile798=) c.670_673delinsATCC (p.Ile224=) c.*462_*465delinsATCC (n.*462_*465delinsATCC) c.651_654delinsATCC (n.651_654delinsATCC) c.*121_*124delinsATCC (n.*121_*124delinsATCC) c.*312_*315delinsATCC (n.*312_*315delinsATCC) c.160_163delinsATCC (p.Ile54=) n.338_341delinsATCC c.1843_1846delinsATCC (p.Ile615=) c.730_733delinsATCC (p.Ile244=) c.1825_1828delinsATCC (p.Ile609=) c.1540_1543delinsATCC (p.Ile514=) c.322_325delinsATCC (p.Ile108=) n.770_773delinsATCC | |
| 17 | g.63488735T>A | CA400557968 | ACE | c.2393T>A (p.Ile798Asn) c.671T>A (p.Ile224Asn) c.*463T>A (n.*463T>A) c.652T>A (n.652T>A) c.*122T>A (n.*122T>A) c.*313T>A (n.*313T>A) c.161T>A (p.Ile54Asn) n.339T>A c.1844T>A (p.Ile615Asn) c.731T>A (p.Ile244Asn) c.1826T>A (p.Ile609Asn) c.1541T>A (p.Ile514Asn) c.323T>A (p.Ile108Asn) n.771T>A | |
| 17 | g.63488735T>C | CA400557969 | ACE | c.2393T>C (p.Ile798Thr) c.671T>C (p.Ile224Thr) c.*463T>C (n.*463T>C) c.652T>C (n.652T>C) c.*122T>C (n.*122T>C) c.*313T>C (n.*313T>C) c.161T>C (p.Ile54Thr) n.339T>C c.1844T>C (p.Ile615Thr) c.731T>C (p.Ile244Thr) c.1826T>C (p.Ile609Thr) c.1541T>C (p.Ile514Thr) c.323T>C (p.Ile108Thr) n.771T>C | |
| 17 | g.63488735T>G | CA400557970 | ACE | c.2393T>G (p.Ile798Ser) c.671T>G (p.Ile224Ser) c.*463T>G (n.*463T>G) c.652T>G (n.652T>G) c.*122T>G (n.*122T>G) c.*313T>G (n.*313T>G) c.161T>G (p.Ile54Ser) n.339T>G c.1844T>G (p.Ile615Ser) c.731T>G (p.Ile244Ser) c.1826T>G (p.Ile609Ser) c.1541T>G (p.Ile514Ser) c.323T>G (p.Ile108Ser) n.771T>G | |
| 17 | g.63488738_63488740del | CA8700083 | ACE | c.2396_2398del (p.Leu799del) c.674_676del (p.Leu225del) c.*466_*468del (n.*466_*468del) c.655_657del (n.655_657del) c.*125_*127del (n.*125_*127del) c.*316_*318del (n.*316_*318del) c.164_166del (p.Leu55del) n.342_344del c.1847_1849del (p.Leu616del) c.734_736del (p.Leu245del) c.1829_1831del (p.Leu610del) c.1544_1546del (p.Leu515del) c.326_328del (p.Leu109del) n.774_776del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63488736C>A | CA501187189 | ACE | c.2394C>A (p.Ile798=) c.672C>A (p.Ile224=) c.*464C>A (n.*464C>A) c.653C>A (n.653C>A) c.*123C>A (n.*123C>A) c.*314C>A (n.*314C>A) c.162C>A (p.Ile54=) n.340C>A c.1845C>A (p.Ile615=) c.732C>A (p.Ile244=) c.1827C>A (p.Ile609=) c.1542C>A (p.Ile514=) c.324C>A (p.Ile108=) n.772C>A | |
| 17 | g.63488736C= | CA2269945972 | ACE | c.2394C= (p.Ile798=) c.672C= (p.Ile224=) c.*464C= (n.*464C=) c.653C= (n.653C=) c.*123C= (n.*123C=) c.*314C= (n.*314C=) c.162C= (p.Ile54=) n.340C= c.1845C= (p.Ile615=) c.732C= (p.Ile244=) c.1827C= (p.Ile609=) c.1542C= (p.Ile514=) c.324C= (p.Ile108=) n.772C= | |
| 17 | g.63488736C>G | CA400557971 | ACE | c.2394C>G (p.Ile798Met) c.672C>G (p.Ile224Met) c.*464C>G (n.*464C>G) c.653C>G (n.653C>G) c.*123C>G (n.*123C>G) c.*314C>G (n.*314C>G) c.162C>G (p.Ile54Met) n.340C>G c.1845C>G (p.Ile615Met) c.732C>G (p.Ile244Met) c.1827C>G (p.Ile609Met) c.1542C>G (p.Ile514Met) c.324C>G (p.Ile108Met) n.772C>G | |
| 17 | g.63488736C>T | CA501187183 | ACE | c.2394C>T (p.Ile798=) c.672C>T (p.Ile224=) c.*464C>T (n.*464C>T) c.653C>T (n.653C>T) c.*123C>T (n.*123C>T) c.*314C>T (n.*314C>T) c.162C>T (p.Ile54=) n.340C>T c.1845C>T (p.Ile615=) c.732C>T (p.Ile244=) c.1827C>T (p.Ile609=) c.1542C>T (p.Ile514=) c.324C>T (p.Ile108=) n.772C>T | dbSNP |
| 17 | g.63488737C>A | CA400557974 | ACE | c.2395C>A (p.Leu799Ile) c.673C>A (p.Leu225Ile) c.*465C>A (n.*465C>A) c.654C>A (n.654C>A) c.*124C>A (n.*124C>A) c.*315C>A (n.*315C>A) c.163C>A (p.Leu55Ile) n.341C>A c.1846C>A (p.Leu616Ile) c.733C>A (p.Leu245Ile) c.1828C>A (p.Leu610Ile) c.1543C>A (p.Leu515Ile) c.325C>A (p.Leu109Ile) n.773C>A | |
| 17 | g.63488737C= | CA2269945973 | ACE | c.2395C= (p.Leu799=) c.673C= (p.Leu225=) c.*465C= (n.*465C=) c.654C= (n.654C=) c.*124C= (n.*124C=) c.*315C= (n.*315C=) c.163C= (p.Leu55=) n.341C= c.1846C= (p.Leu616=) c.733C= (p.Leu245=) c.1828C= (p.Leu610=) c.1543C= (p.Leu515=) c.325C= (p.Leu109=) n.773C= | |
| 17 | g.63488737C>G | CA400557973 | ACE | c.2395C>G (p.Leu799Val) c.673C>G (p.Leu225Val) c.*465C>G (n.*465C>G) c.654C>G (n.654C>G) c.*124C>G (n.*124C>G) c.*315C>G (n.*315C>G) c.163C>G (p.Leu55Val) n.341C>G c.1846C>G (p.Leu616Val) c.733C>G (p.Leu245Val) c.1828C>G (p.Leu610Val) c.1543C>G (p.Leu515Val) c.325C>G (p.Leu109Val) n.773C>G | gnomAD v4 |
| 17 | g.63488737C>T | CA400557972 | ACE | c.2395C>T (p.Leu799Phe) c.673C>T (p.Leu225Phe) c.*465C>T (n.*465C>T) c.654C>T (n.654C>T) c.*124C>T (n.*124C>T) c.*315C>T (n.*315C>T) c.163C>T (p.Leu55Phe) n.341C>T c.1846C>T (p.Leu616Phe) c.733C>T (p.Leu245Phe) c.1828C>T (p.Leu610Phe) c.1543C>T (p.Leu515Phe) c.325C>T (p.Leu109Phe) n.773C>T | dbSNP gnomAD v4 |
| 17 | g.63488738T>A | CA400557975 | ACE | c.2396T>A (p.Leu799His) c.674T>A (p.Leu225His) c.*466T>A (n.*466T>A) c.655T>A (n.655T>A) c.*125T>A (n.*125T>A) c.*316T>A (n.*316T>A) c.164T>A (p.Leu55His) n.342T>A c.1847T>A (p.Leu616His) c.734T>A (p.Leu245His) c.1829T>A (p.Leu610His) c.1544T>A (p.Leu515His) c.326T>A (p.Leu109His) n.774T>A | |
| 17 | g.63488738T>C | CA400557976 | ACE | c.2396T>C (p.Leu799Pro) c.674T>C (p.Leu225Pro) c.*466T>C (n.*466T>C) c.655T>C (n.655T>C) c.*125T>C (n.*125T>C) c.*316T>C (n.*316T>C) c.164T>C (p.Leu55Pro) n.342T>C c.1847T>C (p.Leu616Pro) c.734T>C (p.Leu245Pro) c.1829T>C (p.Leu610Pro) c.1544T>C (p.Leu515Pro) c.326T>C (p.Leu109Pro) n.774T>C | dbSNP gnomAD v4 |
| 17 | g.63488738T>G | CA400557977 | ACE | c.2396T>G (p.Leu799Arg) c.674T>G (p.Leu225Arg) c.*466T>G (n.*466T>G) c.655T>G (n.655T>G) c.*125T>G (n.*125T>G) c.*316T>G (n.*316T>G) c.164T>G (p.Leu55Arg) n.342T>G c.1847T>G (p.Leu616Arg) c.734T>G (p.Leu245Arg) c.1829T>G (p.Leu610Arg) c.1544T>G (p.Leu515Arg) c.326T>G (p.Leu109Arg) n.774T>G | gnomAD v4 |
| 17 | g.63488738T= | CA2269945974 | ACE | c.2396T= (p.Leu799=) c.674T= (p.Leu225=) c.*466T= (n.*466T=) c.655T= (n.655T=) c.*125T= (n.*125T=) c.*316T= (n.*316T=) c.164T= (p.Leu55=) n.342T= c.1847T= (p.Leu616=) c.734T= (p.Leu245=) c.1829T= (p.Leu610=) c.1544T= (p.Leu515=) c.326T= (p.Leu109=) n.774T= | |
| 17 | g.63488739C>A | CA501187214 | ACE | c.2397C>A (p.Leu799=) c.675C>A (p.Leu225=) c.*467C>A (n.*467C>A) c.656C>A (n.656C>A) c.*126C>A (n.*126C>A) c.*317C>A (n.*317C>A) c.165C>A (p.Leu55=) n.343C>A c.1848C>A (p.Leu616=) c.735C>A (p.Leu245=) c.1830C>A (p.Leu610=) c.1545C>A (p.Leu515=) c.327C>A (p.Leu109=) n.775C>A | |
| 17 | g.63488739C>G | CA501187217 | ACE | c.2397C>G (p.Leu799=) c.675C>G (p.Leu225=) c.*467C>G (n.*467C>G) c.656C>G (n.656C>G) c.*126C>G (n.*126C>G) c.*317C>G (n.*317C>G) c.165C>G (p.Leu55=) n.343C>G c.1848C>G (p.Leu616=) c.735C>G (p.Leu245=) c.1830C>G (p.Leu610=) c.1545C>G (p.Leu515=) c.327C>G (p.Leu109=) n.775C>G | |
| 17 | g.63488739C>T | CA501187222 | ACE | c.2397C>T (p.Leu799=) c.675C>T (p.Leu225=) c.*467C>T (n.*467C>T) c.656C>T (n.656C>T) c.*126C>T (n.*126C>T) c.*317C>T (n.*317C>T) c.165C>T (p.Leu55=) n.343C>T c.1848C>T (p.Leu616=) c.735C>T (p.Leu245=) c.1830C>T (p.Leu610=) c.1545C>T (p.Leu515=) c.327C>T (p.Leu109=) n.775C>T | COSMIC COSMIC COSMIC |
| 17 | g.63488740C>A | CA400557978 | ACE | c.2398C>A (p.Gln800Lys) c.676C>A (p.Gln226Lys) c.*468C>A (n.*468C>A) c.657C>A (n.657C>A) c.*127C>A (n.*127C>A) c.*318C>A (n.*318C>A) c.166C>A (p.Gln56Lys) n.344C>A c.1849C>A (p.Gln617Lys) c.736C>A (p.Gln246Lys) c.1831C>A (p.Gln611Lys) c.1546C>A (p.Gln516Lys) c.328C>A (p.Gln110Lys) n.776C>A | |
| 17 | g.63488740C= | CA2269945975 | ACE | c.2398C= (p.Gln800=) c.676C= (p.Gln226=) c.*468C= (n.*468C=) c.657C= (n.657C=) c.*127C= (n.*127C=) c.*318C= (n.*318C=) c.166C= (p.Gln56=) n.344C= c.1849C= (p.Gln617=) c.736C= (p.Gln246=) c.1831C= (p.Gln611=) c.1546C= (p.Gln516=) c.328C= (p.Gln110=) n.776C= | |
| 17 | g.63488740C>G | CA400557979 | ACE | c.2398C>G (p.Gln800Glu) c.676C>G (p.Gln226Glu) c.*468C>G (n.*468C>G) c.657C>G (n.657C>G) c.*127C>G (n.*127C>G) c.*318C>G (n.*318C>G) c.166C>G (p.Gln56Glu) n.344C>G c.1849C>G (p.Gln617Glu) c.736C>G (p.Gln246Glu) c.1831C>G (p.Gln611Glu) c.1546C>G (p.Gln516Glu) c.328C>G (p.Gln110Glu) n.776C>G | |
| 17 | g.63488740C>T | CA400557980 | ACE | c.2398C>T (p.Gln800Ter) c.676C>T (p.Gln226Ter) c.*468C>T (n.*468C>T) c.657C>T (n.657C>T) c.*127C>T (n.*127C>T) c.*318C>T (n.*318C>T) c.166C>T (p.Gln56Ter) n.344C>T c.1849C>T (p.Gln617Ter) c.736C>T (p.Gln246Ter) c.1831C>T (p.Gln611Ter) c.1546C>T (p.Gln516Ter) c.328C>T (p.Gln110Ter) n.776C>T | dbSNP |
| 17 | g.63488741A= | CA2269945976 | ACE | c.2399A= (p.Gln800=) c.677A= (p.Gln226=) c.*469A= (n.*469A=) c.658A= (n.658A=) c.*128A= (n.*128A=) c.*319A= (n.*319A=) c.167A= (p.Gln56=) n.345A= c.1850A= (p.Gln617=) c.737A= (p.Gln246=) c.1832A= (p.Gln611=) c.1547A= (p.Gln516=) c.329A= (p.Gln110=) n.777A= | |
| 17 | g.63488741A>C | CA400557981 | ACE | c.2399A>C (p.Gln800Pro) c.677A>C (p.Gln226Pro) c.*469A>C (n.*469A>C) c.658A>C (n.658A>C) c.*128A>C (n.*128A>C) c.*319A>C (n.*319A>C) c.167A>C (p.Gln56Pro) n.345A>C c.1850A>C (p.Gln617Pro) c.737A>C (p.Gln246Pro) c.1832A>C (p.Gln611Pro) c.1547A>C (p.Gln516Pro) c.329A>C (p.Gln110Pro) n.777A>C | dbSNP gnomAD v4 |
| 17 | g.63488741A>G | CA400557983 | ACE | c.2399A>G (p.Gln800Arg) c.677A>G (p.Gln226Arg) c.*469A>G (n.*469A>G) c.658A>G (n.658A>G) c.*128A>G (n.*128A>G) c.*319A>G (n.*319A>G) c.167A>G (p.Gln56Arg) n.345A>G c.1850A>G (p.Gln617Arg) c.737A>G (p.Gln246Arg) c.1832A>G (p.Gln611Arg) c.1547A>G (p.Gln516Arg) c.329A>G (p.Gln110Arg) n.777A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63488741A>T | CA400557982 | ACE | c.2399A>T (p.Gln800Leu) c.677A>T (p.Gln226Leu) c.*469A>T (n.*469A>T) c.658A>T (n.658A>T) c.*128A>T (n.*128A>T) c.*319A>T (n.*319A>T) c.167A>T (p.Gln56Leu) n.345A>T c.1850A>T (p.Gln617Leu) c.737A>T (p.Gln246Leu) c.1832A>T (p.Gln611Leu) c.1547A>T (p.Gln516Leu) c.329A>T (p.Gln110Leu) n.777A>T | |
| 17 | g.63488742G>A | CA8700085 | ACE | c.2400G>A (p.Gln800=) c.678G>A (p.Gln226=) c.*470G>A (n.*470G>A) c.659G>A (n.659G>A) c.*129G>A (n.*129G>A) c.*320G>A (n.*320G>A) c.168G>A (p.Gln56=) n.346G>A c.1851G>A (p.Gln617=) c.738G>A (p.Gln246=) c.1833G>A (p.Gln611=) c.1548G>A (p.Gln516=) c.330G>A (p.Gln110=) n.778G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63488742G>C | CA8700084 | ACE | c.2400G>C (p.Gln800His) c.678G>C (p.Gln226His) c.*470G>C (n.*470G>C) c.659G>C (n.659G>C) c.*129G>C (n.*129G>C) c.*320G>C (n.*320G>C) c.168G>C (p.Gln56His) n.346G>C c.1851G>C (p.Gln617His) c.738G>C (p.Gln246His) c.1833G>C (p.Gln611His) c.1548G>C (p.Gln516His) c.330G>C (p.Gln110His) n.778G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488742G= | CA2269945977 | ACE | c.2400G= (p.Gln800=) c.678G= (p.Gln226=) c.*470G= (n.*470G=) c.659G= (n.659G=) c.*129G= (n.*129G=) c.*320G= (n.*320G=) c.168G= (p.Gln56=) n.346G= c.1851G= (p.Gln617=) c.738G= (p.Gln246=) c.1833G= (p.Gln611=) c.1548G= (p.Gln516=) c.330G= (p.Gln110=) n.778G= | |
| 17 | g.63488742G>T | CA400557984 | ACE | c.2400G>T (p.Gln800His) c.678G>T (p.Gln226His) c.*470G>T (n.*470G>T) c.659G>T (n.659G>T) c.*129G>T (n.*129G>T) c.*320G>T (n.*320G>T) c.168G>T (p.Gln56His) n.346G>T c.1851G>T (p.Gln617His) c.738G>T (p.Gln246His) c.1833G>T (p.Gln611His) c.1548G>T (p.Gln516His) c.330G>T (p.Gln110His) n.778G>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63488743T>A | CA400557985 | ACE | c.2401T>A (p.Phe801Ile) c.679T>A (p.Phe227Ile) c.*471T>A (n.*471T>A) c.660T>A (n.660T>A) c.*130T>A (n.*130T>A) c.*321T>A (n.*321T>A) c.169T>A (p.Phe57Ile) n.347T>A c.1852T>A (p.Phe618Ile) c.739T>A (p.Phe247Ile) c.1834T>A (p.Phe612Ile) c.1549T>A (p.Phe517Ile) c.331T>A (p.Phe111Ile) n.779T>A | |
| 17 | g.63488743T>C | CA400557986 | ACE | c.2401T>C (p.Phe801Leu) c.679T>C (p.Phe227Leu) c.*471T>C (n.*471T>C) c.660T>C (n.660T>C) c.*130T>C (n.*130T>C) c.*321T>C (n.*321T>C) c.169T>C (p.Phe57Leu) n.347T>C c.1852T>C (p.Phe618Leu) c.739T>C (p.Phe247Leu) c.1834T>C (p.Phe612Leu) c.1549T>C (p.Phe517Leu) c.331T>C (p.Phe111Leu) n.779T>C | |
| 17 | g.63488743T>G | CA400557987 | ACE | c.2401T>G (p.Phe801Val) c.679T>G (p.Phe227Val) c.*471T>G (n.*471T>G) c.660T>G (n.660T>G) c.*130T>G (n.*130T>G) c.*321T>G (n.*321T>G) c.169T>G (p.Phe57Val) n.347T>G c.1852T>G (p.Phe618Val) c.739T>G (p.Phe247Val) c.1834T>G (p.Phe612Val) c.1549T>G (p.Phe517Val) c.331T>G (p.Phe111Val) n.779T>G | |
| 17 | g.63488744T>A | CA400557988 | ACE | c.2402T>A (p.Phe801Tyr) c.680T>A (p.Phe227Tyr) c.*472T>A (n.*472T>A) c.661T>A (n.661T>A) c.*131T>A (n.*131T>A) c.*322T>A (n.*322T>A) c.170T>A (p.Phe57Tyr) n.348T>A c.1853T>A (p.Phe618Tyr) c.740T>A (p.Phe247Tyr) c.1835T>A (p.Phe612Tyr) c.1550T>A (p.Phe517Tyr) c.332T>A (p.Phe111Tyr) n.780T>A | |
| 17 | g.63488744T>C | CA400557989 | ACE | c.2402T>C (p.Phe801Ser) c.680T>C (p.Phe227Ser) c.*472T>C (n.*472T>C) c.661T>C (n.661T>C) c.*131T>C (n.*131T>C) c.*322T>C (n.*322T>C) c.170T>C (p.Phe57Ser) n.348T>C c.1853T>C (p.Phe618Ser) c.740T>C (p.Phe247Ser) c.1835T>C (p.Phe612Ser) c.1550T>C (p.Phe517Ser) c.332T>C (p.Phe111Ser) n.780T>C | dbSNP |
| 17 | g.63488744T>G | CA400557990 | ACE | c.2402T>G (p.Phe801Cys) c.680T>G (p.Phe227Cys) c.*472T>G (n.*472T>G) c.661T>G (n.661T>G) c.*131T>G (n.*131T>G) c.*322T>G (n.*322T>G) c.170T>G (p.Phe57Cys) n.348T>G c.1853T>G (p.Phe618Cys) c.740T>G (p.Phe247Cys) c.1835T>G (p.Phe612Cys) c.1550T>G (p.Phe517Cys) c.332T>G (p.Phe111Cys) n.780T>G | |
| 17 | g.63488744T= | CA2269945978 | ACE | c.2402T= (p.Phe801=) c.680T= (p.Phe227=) c.*472T= (n.*472T=) c.661T= (n.661T=) c.*131T= (n.*131T=) c.*322T= (n.*322T=) c.170T= (p.Phe57=) n.348T= c.1853T= (p.Phe618=) c.740T= (p.Phe247=) c.1835T= (p.Phe612=) c.1550T= (p.Phe517=) c.332T= (p.Phe111=) n.780T= | |
| 17 | g.63488745T>A | CA400557991 | ACE | c.2403T>A (p.Phe801Leu) c.681T>A (p.Phe227Leu) c.*473T>A (n.*473T>A) c.662T>A (n.662T>A) c.*132T>A (n.*132T>A) c.*323T>A (n.*323T>A) c.171T>A (p.Phe57Leu) n.349T>A c.1854T>A (p.Phe618Leu) c.741T>A (p.Phe247Leu) c.1836T>A (p.Phe612Leu) c.1551T>A (p.Phe517Leu) c.333T>A (p.Phe111Leu) n.781T>A | |
| 17 | g.63488745T>C | CA501187272 | ACE | c.2403T>C (p.Phe801=) c.681T>C (p.Phe227=) c.*473T>C (n.*473T>C) c.662T>C (n.662T>C) c.*132T>C (n.*132T>C) c.*323T>C (n.*323T>C) c.171T>C (p.Phe57=) n.349T>C c.1854T>C (p.Phe618=) c.741T>C (p.Phe247=) c.1836T>C (p.Phe612=) c.1551T>C (p.Phe517=) c.333T>C (p.Phe111=) n.781T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488745T>G | CA400557992 | ACE | c.2403T>G (p.Phe801Leu) c.681T>G (p.Phe227Leu) c.*473T>G (n.*473T>G) c.662T>G (n.662T>G) c.*132T>G (n.*132T>G) c.*323T>G (n.*323T>G) c.171T>G (p.Phe57Leu) n.349T>G c.1854T>G (p.Phe618Leu) c.741T>G (p.Phe247Leu) c.1836T>G (p.Phe612Leu) c.1551T>G (p.Phe517Leu) c.333T>G (p.Phe111Leu) n.781T>G | |
| 17 | g.63488745T= | CA2269945979 | ACE | c.2403T= (p.Phe801=) c.681T= (p.Phe227=) c.*473T= (n.*473T=) c.662T= (n.662T=) c.*132T= (n.*132T=) c.*323T= (n.*323T=) c.171T= (p.Phe57=) n.349T= c.1854T= (p.Phe618=) c.741T= (p.Phe247=) c.1836T= (p.Phe612=) c.1551T= (p.Phe517=) c.333T= (p.Phe111=) n.781T= | |
| 17 | g.63488746T>A | CA400557993 | ACE | c.2404T>A (p.Tyr802Asn) c.682T>A (p.Tyr228Asn) c.*474T>A (n.*474T>A) c.663T>A (n.663T>A) c.*133T>A (n.*133T>A) c.*324T>A (n.*324T>A) c.172T>A (p.Tyr58Asn) n.350T>A c.1855T>A (p.Tyr619Asn) c.742T>A (p.Tyr248Asn) c.1837T>A (p.Tyr613Asn) c.1552T>A (p.Tyr518Asn) c.334T>A (p.Tyr112Asn) n.782T>A | |
| 17 | g.63488746T>C | CA400557995 | ACE | c.2404T>C (p.Tyr802His) c.682T>C (p.Tyr228His) c.*474T>C (n.*474T>C) c.663T>C (n.663T>C) c.*133T>C (n.*133T>C) c.*324T>C (n.*324T>C) c.172T>C (p.Tyr58His) n.350T>C c.1855T>C (p.Tyr619His) c.742T>C (p.Tyr248His) c.1837T>C (p.Tyr613His) c.1552T>C (p.Tyr518His) c.334T>C (p.Tyr112His) n.782T>C | |
| 17 | g.63488746T>G | CA400557994 | ACE | c.2404T>G (p.Tyr802Asp) c.682T>G (p.Tyr228Asp) c.*474T>G (n.*474T>G) c.663T>G (n.663T>G) c.*133T>G (n.*133T>G) c.*324T>G (n.*324T>G) c.172T>G (p.Tyr58Asp) n.350T>G c.1855T>G (p.Tyr619Asp) c.742T>G (p.Tyr248Asp) c.1837T>G (p.Tyr613Asp) c.1552T>G (p.Tyr518Asp) c.334T>G (p.Tyr112Asp) n.782T>G | |
| 17 | g.63488747A>C | CA400557996 | ACE | c.2405A>C (p.Tyr802Ser) c.683A>C (p.Tyr228Ser) c.*475A>C (n.*475A>C) c.664A>C (n.664A>C) c.*134A>C (n.*134A>C) c.*325A>C (n.*325A>C) c.173A>C (p.Tyr58Ser) n.351A>C c.1856A>C (p.Tyr619Ser) c.743A>C (p.Tyr248Ser) c.1838A>C (p.Tyr613Ser) c.1553A>C (p.Tyr518Ser) c.335A>C (p.Tyr112Ser) n.783A>C | |
| 17 | g.63488747A>G | CA400557998 | ACE | c.2405A>G (p.Tyr802Cys) c.683A>G (p.Tyr228Cys) c.*475A>G (n.*475A>G) c.664A>G (n.664A>G) c.*134A>G (n.*134A>G) c.*325A>G (n.*325A>G) c.173A>G (p.Tyr58Cys) n.351A>G c.1856A>G (p.Tyr619Cys) c.743A>G (p.Tyr248Cys) c.1838A>G (p.Tyr613Cys) c.1553A>G (p.Tyr518Cys) c.335A>G (p.Tyr112Cys) n.783A>G | |
| 17 | g.63488747A>T | CA400557997 | ACE | c.2405A>T (p.Tyr802Phe) c.683A>T (p.Tyr228Phe) c.*475A>T (n.*475A>T) c.664A>T (n.664A>T) c.*134A>T (n.*134A>T) c.*325A>T (n.*325A>T) c.173A>T (p.Tyr58Phe) n.351A>T c.1856A>T (p.Tyr619Phe) c.743A>T (p.Tyr248Phe) c.1838A>T (p.Tyr613Phe) c.1553A>T (p.Tyr518Phe) c.335A>T (p.Tyr112Phe) n.783A>T | |
| 17 | g.63488748C>A | CA400557999 | ACE | c.2406C>A (p.Tyr802Ter) c.684C>A (p.Tyr228Ter) c.*476C>A (n.*476C>A) c.665C>A (n.665C>A) c.*135C>A (n.*135C>A) c.*326C>A (n.*326C>A) c.174C>A (p.Tyr58Ter) n.352C>A c.1857C>A (p.Tyr619Ter) c.744C>A (p.Tyr248Ter) c.1839C>A (p.Tyr613Ter) c.1554C>A (p.Tyr518Ter) c.336C>A (p.Tyr112Ter) n.784C>A | |
| 17 | g.63488748C>G | CA400558000 | ACE | c.2406C>G (p.Tyr802Ter) c.684C>G (p.Tyr228Ter) c.*476C>G (n.*476C>G) c.665C>G (n.665C>G) c.*135C>G (n.*135C>G) c.*326C>G (n.*326C>G) c.174C>G (p.Tyr58Ter) n.352C>G c.1857C>G (p.Tyr619Ter) c.744C>G (p.Tyr248Ter) c.1839C>G (p.Tyr613Ter) c.1554C>G (p.Tyr518Ter) c.336C>G (p.Tyr112Ter) n.784C>G | |
| 17 | g.63488748C>T | CA501187293 | ACE | c.2406C>T (p.Tyr802=) c.684C>T (p.Tyr228=) c.*476C>T (n.*476C>T) c.665C>T (n.665C>T) c.*135C>T (n.*135C>T) c.*326C>T (n.*326C>T) c.174C>T (p.Tyr58=) n.352C>T c.1857C>T (p.Tyr619=) c.744C>T (p.Tyr248=) c.1839C>T (p.Tyr613=) c.1554C>T (p.Tyr518=) c.336C>T (p.Tyr112=) n.784C>T | gnomAD v4 |
| 17 | g.63488749C>A | CA400558001 | ACE | c.2407C>A (p.Pro803Thr) c.685C>A (p.Pro229Thr) c.*477C>A (n.*477C>A) c.666C>A (n.666C>A) c.*136C>A (n.*136C>A) c.*327C>A (n.*327C>A) c.175C>A (p.Pro59Thr) n.353C>A c.1858C>A (p.Pro620Thr) c.745C>A (p.Pro249Thr) c.1840C>A (p.Pro614Thr) c.1555C>A (p.Pro519Thr) c.337C>A (p.Pro113Thr) n.785C>A | |
| 17 | g.63488749C>G | CA400558002 | ACE | c.2407C>G (p.Pro803Ala) c.685C>G (p.Pro229Ala) c.*477C>G (n.*477C>G) c.666C>G (n.666C>G) c.*136C>G (n.*136C>G) c.*327C>G (n.*327C>G) c.175C>G (p.Pro59Ala) n.353C>G c.1858C>G (p.Pro620Ala) c.745C>G (p.Pro249Ala) c.1840C>G (p.Pro614Ala) c.1555C>G (p.Pro519Ala) c.337C>G (p.Pro113Ala) n.785C>G | |
| 17 | g.63488749C>T | CA400558003 | ACE | c.2407C>T (p.Pro803Ser) c.685C>T (p.Pro229Ser) c.*477C>T (n.*477C>T) c.666C>T (n.666C>T) c.*136C>T (n.*136C>T) c.*327C>T (n.*327C>T) c.175C>T (p.Pro59Ser) n.353C>T c.1858C>T (p.Pro620Ser) c.745C>T (p.Pro249Ser) c.1840C>T (p.Pro614Ser) c.1555C>T (p.Pro519Ser) c.337C>T (p.Pro113Ser) n.785C>T | |
| 17 | g.63488750C>A | CA400558004 | ACE | c.2408C>A (p.Pro803Gln) c.686C>A (p.Pro229Gln) c.*478C>A (n.*478C>A) c.667C>A (n.667C>A) c.*137C>A (n.*137C>A) c.*328C>A (n.*328C>A) c.176C>A (p.Pro59Gln) n.354C>A c.1859C>A (p.Pro620Gln) c.746C>A (p.Pro249Gln) c.1841C>A (p.Pro614Gln) c.1556C>A (p.Pro519Gln) c.338C>A (p.Pro113Gln) n.786C>A | COSMIC |
| 17 | g.63488750C= | CA2269945980 | ACE | c.2408C= (p.Pro803=) c.686C= (p.Pro229=) c.*478C= (n.*478C=) c.667C= (n.667C=) c.*137C= (n.*137C=) c.*328C= (n.*328C=) c.176C= (p.Pro59=) n.354C= c.1859C= (p.Pro620=) c.746C= (p.Pro249=) c.1841C= (p.Pro614=) c.1556C= (p.Pro519=) c.338C= (p.Pro113=) n.786C= | |
| 17 | g.63488750C>G | CA400558005 | ACE | c.2408C>G (p.Pro803Arg) c.686C>G (p.Pro229Arg) c.*478C>G (n.*478C>G) c.667C>G (n.667C>G) c.*137C>G (n.*137C>G) c.*328C>G (n.*328C>G) c.176C>G (p.Pro59Arg) n.354C>G c.1859C>G (p.Pro620Arg) c.746C>G (p.Pro249Arg) c.1841C>G (p.Pro614Arg) c.1556C>G (p.Pro519Arg) c.338C>G (p.Pro113Arg) n.786C>G | |
| 17 | g.63488750C>T | CA8700086 | ACE | c.2408C>T (p.Pro803Leu) c.686C>T (p.Pro229Leu) c.*478C>T (n.*478C>T) c.667C>T (n.667C>T) c.*137C>T (n.*137C>T) c.*328C>T (n.*328C>T) c.176C>T (p.Pro59Leu) n.354C>T c.1859C>T (p.Pro620Leu) c.746C>T (p.Pro249Leu) c.1841C>T (p.Pro614Leu) c.1556C>T (p.Pro519Leu) c.338C>T (p.Pro113Leu) n.786C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488751G>A | CA8700087 | ACE | c.2409G>A (p.Pro803=) c.687G>A (p.Pro229=) c.*479G>A (n.*479G>A) c.668G>A (n.668G>A) c.*138G>A (n.*138G>A) c.*329G>A (n.*329G>A) c.177G>A (p.Pro59=) n.355G>A c.1860G>A (p.Pro620=) c.747G>A (p.Pro249=) c.1842G>A (p.Pro614=) c.1557G>A (p.Pro519=) c.339G>A (p.Pro113=) n.787G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488751G>C | CA501187317 | ACE | c.2409G>C (p.Pro803=) c.687G>C (p.Pro229=) c.*479G>C (n.*479G>C) c.668G>C (n.668G>C) c.*138G>C (n.*138G>C) c.*329G>C (n.*329G>C) c.177G>C (p.Pro59=) n.355G>C c.1860G>C (p.Pro620=) c.747G>C (p.Pro249=) c.1842G>C (p.Pro614=) c.1557G>C (p.Pro519=) c.339G>C (p.Pro113=) n.787G>C | |
| 17 | g.63488751G= | CA2269945981 | ACE | c.2409G= (p.Pro803=) c.687G= (p.Pro229=) c.*479G= (n.*479G=) c.668G= (n.668G=) c.*138G= (n.*138G=) c.*329G= (n.*329G=) c.177G= (p.Pro59=) n.355G= c.1860G= (p.Pro620=) c.747G= (p.Pro249=) c.1842G= (p.Pro614=) c.1557G= (p.Pro519=) c.339G= (p.Pro113=) n.787G= | |
| 17 | g.63488751G>T | CA501187321 | ACE | c.2409G>T (p.Pro803=) c.687G>T (p.Pro229=) c.*479G>T (n.*479G>T) c.668G>T (n.668G>T) c.*138G>T (n.*138G>T) c.*329G>T (n.*329G>T) c.177G>T (p.Pro59=) n.355G>T c.1860G>T (p.Pro620=) c.747G>T (p.Pro249=) c.1842G>T (p.Pro614=) c.1557G>T (p.Pro519=) c.339G>T (p.Pro113=) n.787G>T | |
| 17 | g.63488752A>C | CA400558006 | ACE | c.2410A>C (p.Lys804Gln) c.688A>C (p.Lys230Gln) c.*480A>C (n.*480A>C) c.669A>C (n.669A>C) c.*139A>C (n.*139A>C) c.*330A>C (n.*330A>C) c.178A>C (p.Lys60Gln) n.356A>C c.1861A>C (p.Lys621Gln) c.748A>C (p.Lys250Gln) c.1843A>C (p.Lys615Gln) c.1558A>C (p.Lys520Gln) c.340A>C (p.Lys114Gln) n.788A>C | |
| 17 | g.63488752A>G | CA400558007 | ACE | c.2410A>G (p.Lys804Glu) c.688A>G (p.Lys230Glu) c.*480A>G (n.*480A>G) c.669A>G (n.669A>G) c.*139A>G (n.*139A>G) c.*330A>G (n.*330A>G) c.178A>G (p.Lys60Glu) n.356A>G c.1861A>G (p.Lys621Glu) c.748A>G (p.Lys250Glu) c.1843A>G (p.Lys615Glu) c.1558A>G (p.Lys520Glu) c.340A>G (p.Lys114Glu) n.788A>G | |
| 17 | g.63488752A>T | CA400558008 | ACE | c.2410A>T (p.Lys804Ter) c.688A>T (p.Lys230Ter) c.*480A>T (n.*480A>T) c.669A>T (n.669A>T) c.*139A>T (n.*139A>T) c.*330A>T (n.*330A>T) c.178A>T (p.Lys60Ter) n.356A>T c.1861A>T (p.Lys621Ter) c.748A>T (p.Lys250Ter) c.1843A>T (p.Lys615Ter) c.1558A>T (p.Lys520Ter) c.340A>T (p.Lys114Ter) n.788A>T | |
| 17 | g.63488753A>C | CA400558011 | ACE | c.2411A>C (p.Lys804Thr) c.689A>C (p.Lys230Thr) c.*481A>C (n.*481A>C) c.670A>C (n.670A>C) c.*140A>C (n.*140A>C) c.*331A>C (n.*331A>C) c.179A>C (p.Lys60Thr) n.357A>C c.1862A>C (p.Lys621Thr) c.749A>C (p.Lys250Thr) c.1844A>C (p.Lys615Thr) c.1559A>C (p.Lys520Thr) c.341A>C (p.Lys114Thr) n.789A>C | |
| 17 | g.63488753A>G | CA400558009 | ACE | c.2411A>G (p.Lys804Arg) c.689A>G (p.Lys230Arg) c.*481A>G (n.*481A>G) c.670A>G (n.670A>G) c.*140A>G (n.*140A>G) c.*331A>G (n.*331A>G) c.179A>G (p.Lys60Arg) n.357A>G c.1862A>G (p.Lys621Arg) c.749A>G (p.Lys250Arg) c.1844A>G (p.Lys615Arg) c.1559A>G (p.Lys520Arg) c.341A>G (p.Lys114Arg) n.789A>G | |
| 17 | g.63488753A>T | CA400558010 | ACE | c.2411A>T (p.Lys804Ile) c.689A>T (p.Lys230Ile) c.*481A>T (n.*481A>T) c.670A>T (n.670A>T) c.*140A>T (n.*140A>T) c.*331A>T (n.*331A>T) c.179A>T (p.Lys60Ile) n.357A>T c.1862A>T (p.Lys621Ile) c.749A>T (p.Lys250Ile) c.1844A>T (p.Lys615Ile) c.1559A>T (p.Lys520Ile) c.341A>T (p.Lys114Ile) n.789A>T | |
| 17 | g.63488754A>C | CA400558012 | ACE | c.2412A>C (p.Lys804Asn) c.690A>C (p.Lys230Asn) c.*482A>C (n.*482A>C) c.671A>C (n.671A>C) c.*141A>C (n.*141A>C) c.*332A>C (n.*332A>C) c.180A>C (p.Lys60Asn) n.358A>C c.1863A>C (p.Lys621Asn) c.750A>C (p.Lys250Asn) c.1845A>C (p.Lys615Asn) c.1560A>C (p.Lys520Asn) c.342A>C (p.Lys114Asn) n.790A>C | |
| 17 | g.63488754A>G | CA501187349 | ACE | c.2412A>G (p.Lys804=) c.690A>G (p.Lys230=) c.*482A>G (n.*482A>G) c.671A>G (n.671A>G) c.*141A>G (n.*141A>G) c.*332A>G (n.*332A>G) c.180A>G (p.Lys60=) n.358A>G c.1863A>G (p.Lys621=) c.750A>G (p.Lys250=) c.1845A>G (p.Lys615=) c.1560A>G (p.Lys520=) c.342A>G (p.Lys114=) n.790A>G | |
| 17 | g.63488754A>T | CA400558013 | ACE | c.2412A>T (p.Lys804Asn) c.690A>T (p.Lys230Asn) c.*482A>T (n.*482A>T) c.671A>T (n.671A>T) c.*141A>T (n.*141A>T) c.*332A>T (n.*332A>T) c.180A>T (p.Lys60Asn) n.358A>T c.1863A>T (p.Lys621Asn) c.750A>T (p.Lys250Asn) c.1845A>T (p.Lys615Asn) c.1560A>T (p.Lys520Asn) c.342A>T (p.Lys114Asn) n.790A>T | |
| 17 | g.63488755T>A | CA400558014 | ACE | c.2413T>A (p.Tyr805Asn) c.691T>A (p.Tyr231Asn) c.*483T>A (n.*483T>A) c.672T>A (n.672T>A) c.*142T>A (n.*142T>A) c.*333T>A (n.*333T>A) c.181T>A (p.Tyr61Asn) n.359T>A c.1864T>A (p.Tyr622Asn) c.751T>A (p.Tyr251Asn) c.1846T>A (p.Tyr616Asn) c.1561T>A (p.Tyr521Asn) c.343T>A (p.Tyr115Asn) n.791T>A | |
| 17 | g.63488755T>C | CA400558015 | ACE | c.2413T>C (p.Tyr805His) c.691T>C (p.Tyr231His) c.*483T>C (n.*483T>C) c.672T>C (n.672T>C) c.*142T>C (n.*142T>C) c.*333T>C (n.*333T>C) c.181T>C (p.Tyr61His) n.359T>C c.1864T>C (p.Tyr622His) c.751T>C (p.Tyr251His) c.1846T>C (p.Tyr616His) c.1561T>C (p.Tyr521His) c.343T>C (p.Tyr115His) n.791T>C | |
| 17 | g.63488755T>G | CA400558016 | ACE | c.2413T>G (p.Tyr805Asp) c.691T>G (p.Tyr231Asp) c.*483T>G (n.*483T>G) c.672T>G (n.672T>G) c.*142T>G (n.*142T>G) c.*333T>G (n.*333T>G) c.181T>G (p.Tyr61Asp) n.359T>G c.1864T>G (p.Tyr622Asp) c.751T>G (p.Tyr251Asp) c.1846T>G (p.Tyr616Asp) c.1561T>G (p.Tyr521Asp) c.343T>G (p.Tyr115Asp) n.791T>G | |
| 17 | g.63488756A>C | CA400558017 | ACE | c.2414A>C (p.Tyr805Ser) c.692A>C (p.Tyr231Ser) c.*484A>C (n.*484A>C) c.673A>C (n.673A>C) c.*143A>C (n.*143A>C) c.*334A>C (n.*334A>C) c.182A>C (p.Tyr61Ser) n.360A>C c.1865A>C (p.Tyr622Ser) c.752A>C (p.Tyr251Ser) c.1847A>C (p.Tyr616Ser) c.1562A>C (p.Tyr521Ser) c.344A>C (p.Tyr115Ser) n.792A>C | |
| 17 | g.63488756A>G | CA400558018 | ACE | c.2414A>G (p.Tyr805Cys) c.692A>G (p.Tyr231Cys) c.*484A>G (n.*484A>G) c.673A>G (n.673A>G) c.*143A>G (n.*143A>G) c.*334A>G (n.*334A>G) c.182A>G (p.Tyr61Cys) n.360A>G c.1865A>G (p.Tyr622Cys) c.752A>G (p.Tyr251Cys) c.1847A>G (p.Tyr616Cys) c.1562A>G (p.Tyr521Cys) c.344A>G (p.Tyr115Cys) n.792A>G | |
| 17 | g.63488756A>T | CA400558019 | ACE | c.2414A>T (p.Tyr805Phe) c.692A>T (p.Tyr231Phe) c.*484A>T (n.*484A>T) c.673A>T (n.673A>T) c.*143A>T (n.*143A>T) c.*334A>T (n.*334A>T) c.182A>T (p.Tyr61Phe) n.360A>T c.1865A>T (p.Tyr622Phe) c.752A>T (p.Tyr251Phe) c.1847A>T (p.Tyr616Phe) c.1562A>T (p.Tyr521Phe) c.344A>T (p.Tyr115Phe) n.792A>T | |
| 17 | g.63488757C>A | CA400558020 | ACE | c.2415C>A (p.Tyr805Ter) c.693C>A (p.Tyr231Ter) c.*485C>A (n.*485C>A) c.674C>A (n.674C>A) c.*144C>A (n.*144C>A) c.*335C>A (n.*335C>A) c.183C>A (p.Tyr61Ter) n.361C>A c.1866C>A (p.Tyr622Ter) c.753C>A (p.Tyr251Ter) c.1848C>A (p.Tyr616Ter) c.1563C>A (p.Tyr521Ter) c.345C>A (p.Tyr115Ter) n.793C>A | dbSNP gnomAD v4 |
| 17 | g.63488757C= | CA2269945982 | ACE | c.2415C= (p.Tyr805=) c.693C= (p.Tyr231=) c.*485C= (n.*485C=) c.674C= (n.674C=) c.*144C= (n.*144C=) c.*335C= (n.*335C=) c.183C= (p.Tyr61=) n.361C= c.1866C= (p.Tyr622=) c.753C= (p.Tyr251=) c.1848C= (p.Tyr616=) c.1563C= (p.Tyr521=) c.345C= (p.Tyr115=) n.793C= | |
| 17 | g.63488757C>G | CA400558021 | ACE | c.2415C>G (p.Tyr805Ter) c.693C>G (p.Tyr231Ter) c.*485C>G (n.*485C>G) c.674C>G (n.674C>G) c.*144C>G (n.*144C>G) c.*335C>G (n.*335C>G) c.183C>G (p.Tyr61Ter) n.361C>G c.1866C>G (p.Tyr622Ter) c.753C>G (p.Tyr251Ter) c.1848C>G (p.Tyr616Ter) c.1563C>G (p.Tyr521Ter) c.345C>G (p.Tyr115Ter) n.793C>G | |
| 17 | g.63488757C>T | CA8700088 | ACE | c.2415C>T (p.Tyr805=) c.693C>T (p.Tyr231=) c.*485C>T (n.*485C>T) c.674C>T (n.674C>T) c.*144C>T (n.*144C>T) c.*335C>T (n.*335C>T) c.183C>T (p.Tyr61=) n.361C>T c.1866C>T (p.Tyr622=) c.753C>T (p.Tyr251=) c.1848C>T (p.Tyr616=) c.1563C>T (p.Tyr521=) c.345C>T (p.Tyr115=) n.793C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63488758G>A | CA8700089 | ACE | c.2416G>A (p.Val806Met) c.694G>A (p.Val232Met) c.*486G>A (n.*486G>A) c.675G>A (n.675G>A) c.*145G>A (n.*145G>A) c.*336G>A (n.*336G>A) c.184G>A (p.Val62Met) n.362G>A c.1867G>A (p.Val623Met) c.754G>A (p.Val252Met) c.1849G>A (p.Val617Met) c.1564G>A (p.Val522Met) c.346G>A (p.Val116Met) n.794G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.63488758G>C | CA400558023 | ACE | c.2416G>C (p.Val806Leu) c.694G>C (p.Val232Leu) c.*486G>C (n.*486G>C) c.675G>C (n.675G>C) c.*145G>C (n.*145G>C) c.*336G>C (n.*336G>C) c.184G>C (p.Val62Leu) n.362G>C c.1867G>C (p.Val623Leu) c.754G>C (p.Val252Leu) c.1849G>C (p.Val617Leu) c.1564G>C (p.Val522Leu) c.346G>C (p.Val116Leu) n.794G>C | |
| 17 | g.63488758G= | CA2269945983 | ACE | c.2416G= (p.Val806=) c.694G= (p.Val232=) c.*486G= (n.*486G=) c.675G= (n.675G=) c.*145G= (n.*145G=) c.*336G= (n.*336G=) c.184G= (p.Val62=) n.362G= c.1867G= (p.Val623=) c.754G= (p.Val252=) c.1849G= (p.Val617=) c.1564G= (p.Val522=) c.346G= (p.Val116=) n.794G= | |
| 17 | g.63488758G>T | CA400558022 | ACE | c.2416G>T (p.Val806Leu) c.694G>T (p.Val232Leu) c.*486G>T (n.*486G>T) c.675G>T (n.675G>T) c.*145G>T (n.*145G>T) c.*336G>T (n.*336G>T) c.184G>T (p.Val62Leu) n.362G>T c.1867G>T (p.Val623Leu) c.754G>T (p.Val252Leu) c.1849G>T (p.Val617Leu) c.1564G>T (p.Val522Leu) c.346G>T (p.Val116Leu) n.794G>T | gnomAD v4 |
| 17 | g.63488759T>A | CA400558024 | ACE | c.2417T>A (p.Val806Glu) c.695T>A (p.Val232Glu) c.*487T>A (n.*487T>A) c.676T>A (n.676T>A) c.*146T>A (n.*146T>A) c.*337T>A (n.*337T>A) c.185T>A (p.Val62Glu) n.363T>A c.1868T>A (p.Val623Glu) c.755T>A (p.Val252Glu) c.1850T>A (p.Val617Glu) c.1565T>A (p.Val522Glu) c.347T>A (p.Val116Glu) n.795T>A | |
| 17 | g.63488759T>C | CA400558025 | ACE | c.2417T>C (p.Val806Ala) c.695T>C (p.Val232Ala) c.*487T>C (n.*487T>C) c.676T>C (n.676T>C) c.*146T>C (n.*146T>C) c.*337T>C (n.*337T>C) c.185T>C (p.Val62Ala) n.363T>C c.1868T>C (p.Val623Ala) c.755T>C (p.Val252Ala) c.1850T>C (p.Val617Ala) c.1565T>C (p.Val522Ala) c.347T>C (p.Val116Ala) n.795T>C | |
| 17 | g.63488759T>G | CA400558026 | ACE | c.2417T>G (p.Val806Gly) c.695T>G (p.Val232Gly) c.*487T>G (n.*487T>G) c.676T>G (n.676T>G) c.*146T>G (n.*146T>G) c.*337T>G (n.*337T>G) c.185T>G (p.Val62Gly) n.363T>G c.1868T>G (p.Val623Gly) c.755T>G (p.Val252Gly) c.1850T>G (p.Val617Gly) c.1565T>G (p.Val522Gly) c.347T>G (p.Val116Gly) n.795T>G | |
| 17 | g.63488760G>A | CA501187382 | ACE | c.2418G>A (p.Val806=) c.696G>A (p.Val232=) c.*488G>A (n.*488G>A) c.677G>A (n.677G>A) c.*147G>A (n.*147G>A) c.*338G>A (n.*338G>A) c.186G>A (p.Val62=) n.364G>A c.1869G>A (p.Val623=) c.756G>A (p.Val252=) c.1851G>A (p.Val617=) c.1566G>A (p.Val522=) c.348G>A (p.Val116=) n.796G>A | |
| 17 | g.63488760G>C | CA501187386 | ACE | c.2418G>C (p.Val806=) c.696G>C (p.Val232=) c.*488G>C (n.*488G>C) c.677G>C (n.677G>C) c.*147G>C (n.*147G>C) c.*338G>C (n.*338G>C) c.186G>C (p.Val62=) n.364G>C c.1869G>C (p.Val623=) c.756G>C (p.Val252=) c.1851G>C (p.Val617=) c.1566G>C (p.Val522=) c.348G>C (p.Val116=) n.796G>C | |
| 17 | g.63488760G>T | CA501187389 | ACE | c.2418G>T (p.Val806=) c.696G>T (p.Val232=) c.*488G>T (n.*488G>T) c.677G>T (n.677G>T) c.*147G>T (n.*147G>T) c.*338G>T (n.*338G>T) c.186G>T (p.Val62=) n.364G>T c.1869G>T (p.Val623=) c.756G>T (p.Val252=) c.1851G>T (p.Val617=) c.1566G>T (p.Val522=) c.348G>T (p.Val116=) n.796G>T | |
| 17 | g.63488761G>A | CA292883483 | ACE | c.2419G>A (p.Glu807Lys) c.697G>A (p.Glu233Lys) c.*489G>A (n.*489G>A) c.678G>A (n.678G>A) c.*148G>A (n.*148G>A) c.*339G>A (n.*339G>A) c.187G>A (p.Glu63Lys) n.365G>A c.1870G>A (p.Glu624Lys) c.757G>A (p.Glu253Lys) c.1852G>A (p.Glu618Lys) c.1567G>A (p.Glu523Lys) c.349G>A (p.Glu117Lys) n.797G>A | dbSNP |
| 17 | g.63488761G>C | CA400558027 | ACE | c.2419G>C (p.Glu807Gln) c.697G>C (p.Glu233Gln) c.*489G>C (n.*489G>C) c.678G>C (n.678G>C) c.*148G>C (n.*148G>C) c.*339G>C (n.*339G>C) c.187G>C (p.Glu63Gln) n.365G>C c.1870G>C (p.Glu624Gln) c.757G>C (p.Glu253Gln) c.1852G>C (p.Glu618Gln) c.1567G>C (p.Glu523Gln) c.349G>C (p.Glu117Gln) n.797G>C | |
| 17 | g.63488761G= | CA2269945984 | ACE | c.2419G= (p.Glu807=) c.697G= (p.Glu233=) c.*489G= (n.*489G=) c.678G= (n.678G=) c.*148G= (n.*148G=) c.*339G= (n.*339G=) c.187G= (p.Glu63=) n.365G= c.1870G= (p.Glu624=) c.757G= (p.Glu253=) c.1852G= (p.Glu618=) c.1567G= (p.Glu523=) c.349G= (p.Glu117=) n.797G= | |
| 17 | g.63488761G>T | CA400558028 | ACE | c.2419G>T (p.Glu807Ter) c.697G>T (p.Glu233Ter) c.*489G>T (n.*489G>T) c.678G>T (n.678G>T) c.*148G>T (n.*148G>T) c.*339G>T (n.*339G>T) c.187G>T (p.Glu63Ter) n.365G>T c.1870G>T (p.Glu624Ter) c.757G>T (p.Glu253Ter) c.1852G>T (p.Glu618Ter) c.1567G>T (p.Glu523Ter) c.349G>T (p.Glu117Ter) n.797G>T | |
| 17 | g.63488762A>C | CA400558031 | ACE | c.2420A>C (p.Glu807Ala) c.698A>C (p.Glu233Ala) c.*490A>C (n.*490A>C) c.679A>C (n.679A>C) c.*149A>C (n.*149A>C) c.*340A>C (n.*340A>C) c.188A>C (p.Glu63Ala) n.366A>C c.1871A>C (p.Glu624Ala) c.758A>C (p.Glu253Ala) c.1853A>C (p.Glu618Ala) c.1568A>C (p.Glu523Ala) c.350A>C (p.Glu117Ala) n.798A>C | |
| 17 | g.63488762A>G | CA400558029 | ACE | c.2420A>G (p.Glu807Gly) c.698A>G (p.Glu233Gly) c.*490A>G (n.*490A>G) c.679A>G (n.679A>G) c.*149A>G (n.*149A>G) c.*340A>G (n.*340A>G) c.188A>G (p.Glu63Gly) n.366A>G c.1871A>G (p.Glu624Gly) c.758A>G (p.Glu253Gly) c.1853A>G (p.Glu618Gly) c.1568A>G (p.Glu523Gly) c.350A>G (p.Glu117Gly) n.798A>G | |
| 17 | g.63488762A>T | CA400558030 | ACE | c.2420A>T (p.Glu807Val) c.698A>T (p.Glu233Val) c.*490A>T (n.*490A>T) c.679A>T (n.679A>T) c.*149A>T (n.*149A>T) c.*340A>T (n.*340A>T) c.188A>T (p.Glu63Val) n.366A>T c.1871A>T (p.Glu624Val) c.758A>T (p.Glu253Val) c.1853A>T (p.Glu618Val) c.1568A>T (p.Glu523Val) c.350A>T (p.Glu117Val) n.798A>T | |
| 17 | g.63488763A>C | CA400558032 | ACE | c.2421A>C (p.Glu807Asp) c.699A>C (p.Glu233Asp) c.*491A>C (n.*491A>C) c.680A>C (n.680A>C) c.*150A>C (n.*150A>C) c.*341A>C (n.*341A>C) c.189A>C (p.Glu63Asp) n.367A>C c.1872A>C (p.Glu624Asp) c.759A>C (p.Glu253Asp) c.1854A>C (p.Glu618Asp) c.1569A>C (p.Glu523Asp) c.351A>C (p.Glu117Asp) n.799A>C | |
| 17 | g.63488763A>G | CA501187409 | ACE | c.2421A>G (p.Glu807=) c.699A>G (p.Glu233=) c.*491A>G (n.*491A>G) c.680A>G (n.680A>G) c.*150A>G (n.*150A>G) c.*341A>G (n.*341A>G) c.189A>G (p.Glu63=) n.367A>G c.1872A>G (p.Glu624=) c.759A>G (p.Glu253=) c.1854A>G (p.Glu618=) c.1569A>G (p.Glu523=) c.351A>G (p.Glu117=) n.799A>G | |
| 17 | g.63488763A>T | CA400558033 | ACE | c.2421A>T (p.Glu807Asp) c.699A>T (p.Glu233Asp) c.*491A>T (n.*491A>T) c.680A>T (n.680A>T) c.*150A>T (n.*150A>T) c.*341A>T (n.*341A>T) c.189A>T (p.Glu63Asp) n.367A>T c.1872A>T (p.Glu624Asp) c.759A>T (p.Glu253Asp) c.1854A>T (p.Glu618Asp) c.1569A>T (p.Glu523Asp) c.351A>T (p.Glu117Asp) n.799A>T | |
| 17 | g.63488764C>A | CA400558034 | ACE | c.2422C>A (p.Leu808Ile) c.700C>A (p.Leu234Ile) c.*492C>A (n.*492C>A) c.681C>A (n.681C>A) c.*151C>A (n.*151C>A) c.*342C>A (n.*342C>A) c.190C>A (p.Leu64Ile) n.368C>A c.1873C>A (p.Leu625Ile) c.760C>A (p.Leu254Ile) c.1855C>A (p.Leu619Ile) c.1570C>A (p.Leu524Ile) c.352C>A (p.Leu118Ile) n.800C>A | |
| 17 | g.63488764C= | CA2269945985 | ACE | c.2422C= (p.Leu808=) c.700C= (p.Leu234=) c.*492C= (n.*492C=) c.681C= (n.681C=) c.*151C= (n.*151C=) c.*342C= (n.*342C=) c.190C= (p.Leu64=) n.368C= c.1873C= (p.Leu625=) c.760C= (p.Leu254=) c.1855C= (p.Leu619=) c.1570C= (p.Leu524=) c.352C= (p.Leu118=) n.800C= | |
| 17 | g.63488764C>G | CA400558035 | ACE | c.2422C>G (p.Leu808Val) c.700C>G (p.Leu234Val) c.*492C>G (n.*492C>G) c.681C>G (n.681C>G) c.*151C>G (n.*151C>G) c.*342C>G (n.*342C>G) c.190C>G (p.Leu64Val) n.368C>G c.1873C>G (p.Leu625Val) c.760C>G (p.Leu254Val) c.1855C>G (p.Leu619Val) c.1570C>G (p.Leu524Val) c.352C>G (p.Leu118Val) n.800C>G | |
| 17 | g.63488764C>T | CA8700090 | ACE | c.2422C>T (p.Leu808Phe) c.700C>T (p.Leu234Phe) c.*492C>T (n.*492C>T) c.681C>T (n.681C>T) c.*151C>T (n.*151C>T) c.*342C>T (n.*342C>T) c.190C>T (p.Leu64Phe) n.368C>T c.1873C>T (p.Leu625Phe) c.760C>T (p.Leu254Phe) c.1855C>T (p.Leu619Phe) c.1570C>T (p.Leu524Phe) c.352C>T (p.Leu118Phe) n.800C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488765T>A | CA400558036 | ACE | c.2423T>A (p.Leu808His) c.701T>A (p.Leu234His) c.*493T>A (n.*493T>A) c.682T>A (n.682T>A) c.*152T>A (n.*152T>A) c.*343T>A (n.*343T>A) c.191T>A (p.Leu64His) n.369T>A c.1874T>A (p.Leu625His) c.761T>A (p.Leu254His) c.1856T>A (p.Leu619His) c.1571T>A (p.Leu524His) c.353T>A (p.Leu118His) n.801T>A | |
| 17 | g.63488765T>C | CA400558038 | ACE | c.2423T>C (p.Leu808Pro) c.701T>C (p.Leu234Pro) c.*493T>C (n.*493T>C) c.682T>C (n.682T>C) c.*152T>C (n.*152T>C) c.*343T>C (n.*343T>C) c.191T>C (p.Leu64Pro) n.369T>C c.1874T>C (p.Leu625Pro) c.761T>C (p.Leu254Pro) c.1856T>C (p.Leu619Pro) c.1571T>C (p.Leu524Pro) c.353T>C (p.Leu118Pro) n.801T>C | gnomAD v4 |
| 17 | g.63488765T>G | CA400558037 | ACE | c.2423T>G (p.Leu808Arg) c.701T>G (p.Leu234Arg) c.*493T>G (n.*493T>G) c.682T>G (n.682T>G) c.*152T>G (n.*152T>G) c.*343T>G (n.*343T>G) c.191T>G (p.Leu64Arg) n.369T>G c.1874T>G (p.Leu625Arg) c.761T>G (p.Leu254Arg) c.1856T>G (p.Leu619Arg) c.1571T>G (p.Leu524Arg) c.353T>G (p.Leu118Arg) n.801T>G | |
| 17 | g.63488766C>A | CA501187454 | ACE | c.2424C>A (p.Leu808=) c.702C>A (p.Leu234=) c.*494C>A (n.*494C>A) c.683C>A (n.683C>A) c.*153C>A (n.*153C>A) c.*344C>A (n.*344C>A) c.192C>A (p.Leu64=) n.370C>A c.1875C>A (p.Leu625=) c.762C>A (p.Leu254=) c.1857C>A (p.Leu619=) c.1572C>A (p.Leu524=) c.354C>A (p.Leu118=) n.802C>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63488766C>G | CA501187456 | ACE | c.2424C>G (p.Leu808=) c.702C>G (p.Leu234=) c.*494C>G (n.*494C>G) c.683C>G (n.683C>G) c.*153C>G (n.*153C>G) c.*344C>G (n.*344C>G) c.192C>G (p.Leu64=) n.370C>G c.1875C>G (p.Leu625=) c.762C>G (p.Leu254=) c.1857C>G (p.Leu619=) c.1572C>G (p.Leu524=) c.354C>G (p.Leu118=) n.802C>G | |
| 17 | g.63488766C>T | CA501187460 | ACE | c.2424C>T (p.Leu808=) c.702C>T (p.Leu234=) c.*494C>T (n.*494C>T) c.683C>T (n.683C>T) c.*153C>T (n.*153C>T) c.*344C>T (n.*344C>T) c.192C>T (p.Leu64=) n.370C>T c.1875C>T (p.Leu625=) c.762C>T (p.Leu254=) c.1857C>T (p.Leu619=) c.1572C>T (p.Leu524=) c.354C>T (p.Leu118=) n.802C>T | gnomAD v4 |
| 17 | g.63488767A= | CA2269945986 | ACE | c.2425A= (p.Ile809=) c.703A= (p.Ile235=) c.*495A= (n.*495A=) c.684A= (n.684A=) c.*154A= (n.*154A=) c.*345A= (n.*345A=) c.193A= (p.Ile65=) n.371A= c.1876A= (p.Ile626=) c.763A= (p.Ile255=) c.1858A= (p.Ile620=) c.1573A= (p.Ile525=) c.355A= (p.Ile119=) n.803A= | |
| 17 | g.63488767A>C | CA400558039 | ACE | c.2425A>C (p.Ile809Leu) c.703A>C (p.Ile235Leu) c.*495A>C (n.*495A>C) c.684A>C (n.684A>C) c.*154A>C (n.*154A>C) c.*345A>C (n.*345A>C) c.193A>C (p.Ile65Leu) n.371A>C c.1876A>C (p.Ile626Leu) c.763A>C (p.Ile255Leu) c.1858A>C (p.Ile620Leu) c.1573A>C (p.Ile525Leu) c.355A>C (p.Ile119Leu) n.803A>C | gnomAD v4 |
| 17 | g.63488767A>G | CA8700091 | ACE | c.2425A>G (p.Ile809Val) c.703A>G (p.Ile235Val) c.*495A>G (n.*495A>G) c.684A>G (n.684A>G) c.*154A>G (n.*154A>G) c.*345A>G (n.*345A>G) c.193A>G (p.Ile65Val) n.371A>G c.1876A>G (p.Ile626Val) c.763A>G (p.Ile255Val) c.1858A>G (p.Ile620Val) c.1573A>G (p.Ile525Val) c.355A>G (p.Ile119Val) n.803A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488767A>T | CA400558040 | ACE | c.2425A>T (p.Ile809Phe) c.703A>T (p.Ile235Phe) c.*495A>T (n.*495A>T) c.684A>T (n.684A>T) c.*154A>T (n.*154A>T) c.*345A>T (n.*345A>T) c.193A>T (p.Ile65Phe) n.371A>T c.1876A>T (p.Ile626Phe) c.763A>T (p.Ile255Phe) c.1858A>T (p.Ile620Phe) c.1573A>T (p.Ile525Phe) c.355A>T (p.Ile119Phe) n.803A>T | |
| 17 | g.63488768T>A | CA400558041 | ACE | c.2426T>A (p.Ile809Asn) c.704T>A (p.Ile235Asn) c.*496T>A (n.*496T>A) c.685T>A (n.685T>A) c.*155T>A (n.*155T>A) c.*346T>A (n.*346T>A) c.194T>A (p.Ile65Asn) n.372T>A c.1877T>A (p.Ile626Asn) c.764T>A (p.Ile255Asn) c.1859T>A (p.Ile620Asn) c.1574T>A (p.Ile525Asn) c.356T>A (p.Ile119Asn) n.804T>A | |
| 17 | g.63488768T>C | CA400558042 | ACE | c.2426T>C (p.Ile809Thr) c.704T>C (p.Ile235Thr) c.*496T>C (n.*496T>C) c.685T>C (n.685T>C) c.*155T>C (n.*155T>C) c.*346T>C (n.*346T>C) c.194T>C (p.Ile65Thr) n.372T>C c.1877T>C (p.Ile626Thr) c.764T>C (p.Ile255Thr) c.1859T>C (p.Ile620Thr) c.1574T>C (p.Ile525Thr) c.356T>C (p.Ile119Thr) n.804T>C | |
| 17 | g.63488768T>G | CA400558043 | ACE | c.2426T>G (p.Ile809Ser) c.704T>G (p.Ile235Ser) c.*496T>G (n.*496T>G) c.685T>G (n.685T>G) c.*155T>G (n.*155T>G) c.*346T>G (n.*346T>G) c.194T>G (p.Ile65Ser) n.372T>G c.1877T>G (p.Ile626Ser) c.764T>G (p.Ile255Ser) c.1859T>G (p.Ile620Ser) c.1574T>G (p.Ile525Ser) c.356T>G (p.Ile119Ser) n.804T>G | |
| 17 | g.63488769C>A | CA501187483 | ACE | c.2427C>A (p.Ile809=) c.705C>A (p.Ile235=) c.*497C>A (n.*497C>A) c.686C>A (n.686C>A) c.*156C>A (n.*156C>A) c.*347C>A (n.*347C>A) c.195C>A (p.Ile65=) n.373C>A c.1878C>A (p.Ile626=) c.765C>A (p.Ile255=) c.1860C>A (p.Ile620=) c.1575C>A (p.Ile525=) c.357C>A (p.Ile119=) n.805C>A | |
| 17 | g.63488769C>G | CA400558044 | ACE | c.2427C>G (p.Ile809Met) c.705C>G (p.Ile235Met) c.*497C>G (n.*497C>G) c.686C>G (n.686C>G) c.*156C>G (n.*156C>G) c.*347C>G (n.*347C>G) c.195C>G (p.Ile65Met) n.373C>G c.1878C>G (p.Ile626Met) c.765C>G (p.Ile255Met) c.1860C>G (p.Ile620Met) c.1575C>G (p.Ile525Met) c.357C>G (p.Ile119Met) n.805C>G | |
| 17 | g.63488769C>T | CA501187492 | ACE | c.2427C>T (p.Ile809=) c.705C>T (p.Ile235=) c.*497C>T (n.*497C>T) c.686C>T (n.686C>T) c.*156C>T (n.*156C>T) c.*347C>T (n.*347C>T) c.195C>T (p.Ile65=) n.373C>T c.1878C>T (p.Ile626=) c.765C>T (p.Ile255=) c.1860C>T (p.Ile620=) c.1575C>T (p.Ile525=) c.357C>T (p.Ile119=) n.805C>T | |
| 17 | g.63488770A>C | CA400558045 | ACE | c.2428A>C (p.Asn810His) c.706A>C (p.Asn236His) c.*498A>C (n.*498A>C) c.687A>C (n.687A>C) c.*157A>C (n.*157A>C) c.*348A>C (n.*348A>C) c.196A>C (p.Asn66His) n.374A>C c.1879A>C (p.Asn627His) c.766A>C (p.Asn256His) c.1861A>C (p.Asn621His) c.1576A>C (p.Asn526His) c.358A>C (p.Asn120His) n.806A>C | |
| 17 | g.63488770A>G | CA400558046 | ACE | c.2428A>G (p.Asn810Asp) c.706A>G (p.Asn236Asp) c.*498A>G (n.*498A>G) c.687A>G (n.687A>G) c.*157A>G (n.*157A>G) c.*348A>G (n.*348A>G) c.196A>G (p.Asn66Asp) n.374A>G c.1879A>G (p.Asn627Asp) c.766A>G (p.Asn256Asp) c.1861A>G (p.Asn621Asp) c.1576A>G (p.Asn526Asp) c.358A>G (p.Asn120Asp) n.806A>G | |
| 17 | g.63488770A>T | CA400558047 | ACE | c.2428A>T (p.Asn810Tyr) c.706A>T (p.Asn236Tyr) c.*498A>T (n.*498A>T) c.687A>T (n.687A>T) c.*157A>T (n.*157A>T) c.*348A>T (n.*348A>T) c.196A>T (p.Asn66Tyr) n.374A>T c.1879A>T (p.Asn627Tyr) c.766A>T (p.Asn256Tyr) c.1861A>T (p.Asn621Tyr) c.1576A>T (p.Asn526Tyr) c.358A>T (p.Asn120Tyr) n.806A>T | |
| 17 | g.63488771A= | CA2269945987 | ACE | c.2429A= (p.Asn810=) c.707A= (p.Asn236=) c.*499A= (n.*499A=) c.688A= (n.688A=) c.*158A= (n.*158A=) c.*349A= (n.*349A=) c.197A= (p.Asn66=) n.375A= c.1880A= (p.Asn627=) c.767A= (p.Asn256=) c.1862A= (p.Asn621=) c.1577A= (p.Asn526=) c.359A= (p.Asn120=) n.807A= | |
| 17 | g.63488771A>C | CA400558048 | ACE | c.2429A>C (p.Asn810Thr) c.707A>C (p.Asn236Thr) c.*499A>C (n.*499A>C) c.688A>C (n.688A>C) c.*158A>C (n.*158A>C) c.*349A>C (n.*349A>C) c.197A>C (p.Asn66Thr) n.375A>C c.1880A>C (p.Asn627Thr) c.767A>C (p.Asn256Thr) c.1862A>C (p.Asn621Thr) c.1577A>C (p.Asn526Thr) c.359A>C (p.Asn120Thr) n.807A>C | |
| 17 | g.63488771A>G | CA400558050 | ACE | c.2429A>G (p.Asn810Ser) c.707A>G (p.Asn236Ser) c.*499A>G (n.*499A>G) c.688A>G (n.688A>G) c.*158A>G (n.*158A>G) c.*349A>G (n.*349A>G) c.197A>G (p.Asn66Ser) n.375A>G c.1880A>G (p.Asn627Ser) c.767A>G (p.Asn256Ser) c.1862A>G (p.Asn621Ser) c.1577A>G (p.Asn526Ser) c.359A>G (p.Asn120Ser) n.807A>G | dbSNP gnomAD v2 |
| 17 | g.63488771A>T | CA400558049 | ACE | c.2429A>T (p.Asn810Ile) c.707A>T (p.Asn236Ile) c.*499A>T (n.*499A>T) c.688A>T (n.688A>T) c.*158A>T (n.*158A>T) c.*349A>T (n.*349A>T) c.197A>T (p.Asn66Ile) n.375A>T c.1880A>T (p.Asn627Ile) c.767A>T (p.Asn256Ile) c.1862A>T (p.Asn621Ile) c.1577A>T (p.Asn526Ile) c.359A>T (p.Asn120Ile) n.807A>T | |
| 17 | g.63488772C>A | CA400558051 | ACE | c.2430C>A (p.Asn810Lys) c.708C>A (p.Asn236Lys) c.*500C>A (n.*500C>A) c.689C>A (n.689C>A) c.*159C>A (n.*159C>A) c.*350C>A (n.*350C>A) c.198C>A (p.Asn66Lys) n.376C>A c.1881C>A (p.Asn627Lys) c.768C>A (p.Asn256Lys) c.1863C>A (p.Asn621Lys) c.1578C>A (p.Asn526Lys) c.360C>A (p.Asn120Lys) n.808C>A | |
| 17 | g.63488772C= | CA2269945988 | ACE | c.2430C= (p.Asn810=) c.708C= (p.Asn236=) c.*500C= (n.*500C=) c.689C= (n.689C=) c.*159C= (n.*159C=) c.*350C= (n.*350C=) c.198C= (p.Asn66=) n.376C= c.1881C= (p.Asn627=) c.768C= (p.Asn256=) c.1863C= (p.Asn621=) c.1578C= (p.Asn526=) c.360C= (p.Asn120=) n.808C= | |
| 17 | g.63488772C>G | CA400558052 | ACE | c.2430C>G (p.Asn810Lys) c.708C>G (p.Asn236Lys) c.*500C>G (n.*500C>G) c.689C>G (n.689C>G) c.*159C>G (n.*159C>G) c.*350C>G (n.*350C>G) c.198C>G (p.Asn66Lys) n.376C>G c.1881C>G (p.Asn627Lys) c.768C>G (p.Asn256Lys) c.1863C>G (p.Asn621Lys) c.1578C>G (p.Asn526Lys) c.360C>G (p.Asn120Lys) n.808C>G | |
| 17 | g.63488772C>T | CA8700092 | ACE | c.2430C>T (p.Asn810=) c.708C>T (p.Asn236=) c.*500C>T (n.*500C>T) c.689C>T (n.689C>T) c.*159C>T (n.*159C>T) c.*350C>T (n.*350C>T) c.198C>T (p.Asn66=) n.376C>T c.1881C>T (p.Asn627=) c.768C>T (p.Asn256=) c.1863C>T (p.Asn621=) c.1578C>T (p.Asn526=) c.360C>T (p.Asn120=) n.808C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63488773C>A | CA400558053 | ACE | c.2431C>A (p.Gln811Lys) c.709C>A (p.Gln237Lys) c.*501C>A (n.*501C>A) c.690C>A (n.690C>A) c.*160C>A (n.*160C>A) c.*351C>A (n.*351C>A) c.199C>A (p.Gln67Lys) n.377C>A c.1882C>A (p.Gln628Lys) c.769C>A (p.Gln257Lys) c.1864C>A (p.Gln622Lys) c.1579C>A (p.Gln527Lys) c.361C>A (p.Gln121Lys) n.809C>A | |
| 17 | g.63488773C>G | CA400558054 | ACE | c.2431C>G (p.Gln811Glu) c.709C>G (p.Gln237Glu) c.*501C>G (n.*501C>G) c.690C>G (n.690C>G) c.*160C>G (n.*160C>G) c.*351C>G (n.*351C>G) c.199C>G (p.Gln67Glu) n.377C>G c.1882C>G (p.Gln628Glu) c.769C>G (p.Gln257Glu) c.1864C>G (p.Gln622Glu) c.1579C>G (p.Gln527Glu) c.361C>G (p.Gln121Glu) n.809C>G | |
| 17 | g.63488773C>T | CA400558055 | ACE | c.2431C>T (p.Gln811Ter) c.709C>T (p.Gln237Ter) c.*501C>T (n.*501C>T) c.690C>T (n.690C>T) c.*160C>T (n.*160C>T) c.*351C>T (n.*351C>T) c.199C>T (p.Gln67Ter) n.377C>T c.1882C>T (p.Gln628Ter) c.769C>T (p.Gln257Ter) c.1864C>T (p.Gln622Ter) c.1579C>T (p.Gln527Ter) c.361C>T (p.Gln121Ter) n.809C>T | |
| 17 | g.63488774A= | CA2269945989 | ACE | c.2432A= (p.Gln811=) c.710A= (p.Gln237=) c.*502A= (n.*502A=) c.691A= (n.691A=) c.*161A= (n.*161A=) c.*352A= (n.*352A=) c.200A= (p.Gln67=) n.378A= c.1883A= (p.Gln628=) c.770A= (p.Gln257=) c.1865A= (p.Gln622=) c.1580A= (p.Gln527=) c.362A= (p.Gln121=) n.810A= | |
| 17 | g.63488774A>C | CA400558056 | ACE | c.2432A>C (p.Gln811Pro) c.710A>C (p.Gln237Pro) c.*502A>C (n.*502A>C) c.691A>C (n.691A>C) c.*161A>C (n.*161A>C) c.*352A>C (n.*352A>C) c.200A>C (p.Gln67Pro) n.378A>C c.1883A>C (p.Gln628Pro) c.770A>C (p.Gln257Pro) c.1865A>C (p.Gln622Pro) c.1580A>C (p.Gln527Pro) c.362A>C (p.Gln121Pro) n.810A>C | |
| 17 | g.63488774A>G | CA400558057 | ACE | c.2432A>G (p.Gln811Arg) c.710A>G (p.Gln237Arg) c.*502A>G (n.*502A>G) c.691A>G (n.691A>G) c.*161A>G (n.*161A>G) c.*352A>G (n.*352A>G) c.200A>G (p.Gln67Arg) n.378A>G c.1883A>G (p.Gln628Arg) c.770A>G (p.Gln257Arg) c.1865A>G (p.Gln622Arg) c.1580A>G (p.Gln527Arg) c.362A>G (p.Gln121Arg) n.810A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63488774A>T | CA400558058 | ACE | c.2432A>T (p.Gln811Leu) c.710A>T (p.Gln237Leu) c.*502A>T (n.*502A>T) c.691A>T (n.691A>T) c.*161A>T (n.*161A>T) c.*352A>T (n.*352A>T) c.200A>T (p.Gln67Leu) n.378A>T c.1883A>T (p.Gln628Leu) c.770A>T (p.Gln257Leu) c.1865A>T (p.Gln622Leu) c.1580A>T (p.Gln527Leu) c.362A>T (p.Gln121Leu) n.810A>T | |
| 17 | g.63488775G>A | CA501187544 | ACE | c.2433G>A (p.Gln811=) c.711G>A (p.Gln237=) c.*503G>A (n.*503G>A) c.692G>A (n.692G>A) c.*162G>A (n.*162G>A) c.*353G>A (n.*353G>A) c.201G>A (p.Gln67=) n.379G>A c.1884G>A (p.Gln628=) c.771G>A (p.Gln257=) c.1866G>A (p.Gln622=) c.1581G>A (p.Gln527=) c.363G>A (p.Gln121=) n.811G>A | |
| 17 | g.63488775G>C | CA400558060 | ACE | c.2433G>C (p.Gln811His) c.711G>C (p.Gln237His) c.*503G>C (n.*503G>C) c.692G>C (n.692G>C) c.*162G>C (n.*162G>C) c.*353G>C (n.*353G>C) c.201G>C (p.Gln67His) n.379G>C c.1884G>C (p.Gln628His) c.771G>C (p.Gln257His) c.1866G>C (p.Gln622His) c.1581G>C (p.Gln527His) c.363G>C (p.Gln121His) n.811G>C | |
| 17 | g.63488775G>T | CA400558059 | ACE | c.2433G>T (p.Gln811His) c.711G>T (p.Gln237His) c.*503G>T (n.*503G>T) c.692G>T (n.692G>T) c.*162G>T (n.*162G>T) c.*353G>T (n.*353G>T) c.201G>T (p.Gln67His) n.379G>T c.1884G>T (p.Gln628His) c.771G>T (p.Gln257His) c.1866G>T (p.Gln622His) c.1581G>T (p.Gln527His) c.363G>T (p.Gln121His) n.811G>T | |
| 17 | g.63488776G>A | CA400558061 | ACE | c.2434G>A (p.Ala812Thr) c.712G>A (p.Ala238Thr) c.*504G>A (n.*504G>A) c.693G>A (n.693G>A) c.*163G>A (n.*163G>A) c.*354G>A (n.*354G>A) c.202G>A (p.Ala68Thr) n.380G>A c.1885G>A (p.Ala629Thr) c.772G>A (p.Ala258Thr) c.1867G>A (p.Ala623Thr) c.1582G>A (p.Ala528Thr) c.364G>A (p.Ala122Thr) n.812G>A | |
| 17 | g.63488776G>C | CA400558062 | ACE | c.2434G>C (p.Ala812Pro) c.712G>C (p.Ala238Pro) c.*504G>C (n.*504G>C) c.693G>C (n.693G>C) c.*163G>C (n.*163G>C) c.*354G>C (n.*354G>C) c.202G>C (p.Ala68Pro) n.380G>C c.1885G>C (p.Ala629Pro) c.772G>C (p.Ala258Pro) c.1867G>C (p.Ala623Pro) c.1582G>C (p.Ala528Pro) c.364G>C (p.Ala122Pro) n.812G>C | |
| 17 | g.63488776G>T | CA400558063 | ACE | c.2434G>T (p.Ala812Ser) c.712G>T (p.Ala238Ser) c.*504G>T (n.*504G>T) c.693G>T (n.693G>T) c.*163G>T (n.*163G>T) c.*354G>T (n.*354G>T) c.202G>T (p.Ala68Ser) n.380G>T c.1885G>T (p.Ala629Ser) c.772G>T (p.Ala258Ser) c.1867G>T (p.Ala623Ser) c.1582G>T (p.Ala528Ser) c.364G>T (p.Ala122Ser) n.812G>T | |
| 17 | g.63488777C>A | CA400558064 | ACE | c.2435C>A (p.Ala812Asp) c.713C>A (p.Ala238Asp) c.*505C>A (n.*505C>A) c.694C>A (n.694C>A) c.*164C>A (n.*164C>A) c.*355C>A (n.*355C>A) c.203C>A (p.Ala68Asp) n.381C>A c.1886C>A (p.Ala629Asp) c.773C>A (p.Ala258Asp) c.1868C>A (p.Ala623Asp) c.1583C>A (p.Ala528Asp) c.365C>A (p.Ala122Asp) n.813C>A | gnomAD v4 |
| 17 | g.63488777C= | CA2269945990 | ACE | c.2435C= (p.Ala812=) c.713C= (p.Ala238=) c.*505C= (n.*505C=) c.694C= (n.694C=) c.*164C= (n.*164C=) c.*355C= (n.*355C=) c.203C= (p.Ala68=) n.381C= c.1886C= (p.Ala629=) c.773C= (p.Ala258=) c.1868C= (p.Ala623=) c.1583C= (p.Ala528=) c.365C= (p.Ala122=) n.813C= | |
| 17 | g.63488777C>G | CA400558065 | ACE | c.2435C>G (p.Ala812Gly) c.713C>G (p.Ala238Gly) c.*505C>G (n.*505C>G) c.694C>G (n.694C>G) c.*164C>G (n.*164C>G) c.*355C>G (n.*355C>G) c.203C>G (p.Ala68Gly) n.381C>G c.1886C>G (p.Ala629Gly) c.773C>G (p.Ala258Gly) c.1868C>G (p.Ala623Gly) c.1583C>G (p.Ala528Gly) c.365C>G (p.Ala122Gly) n.813C>G | |
| 17 | g.63488777C>T | CA8700093 | ACE | c.2435C>T (p.Ala812Val) c.713C>T (p.Ala238Val) c.*505C>T (n.*505C>T) c.694C>T (n.694C>T) c.*164C>T (n.*164C>T) c.*355C>T (n.*355C>T) c.203C>T (p.Ala68Val) n.381C>T c.1886C>T (p.Ala629Val) c.773C>T (p.Ala258Val) c.1868C>T (p.Ala623Val) c.1583C>T (p.Ala528Val) c.365C>T (p.Ala122Val) n.813C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63488778T>A | CA501187565 | ACE | c.2436T>A (p.Ala812=) c.714T>A (p.Ala238=) c.*506T>A (n.*506T>A) c.695T>A (n.695T>A) c.*165T>A (n.*165T>A) c.*356T>A (n.*356T>A) c.204T>A (p.Ala68=) n.382T>A c.1887T>A (p.Ala629=) c.774T>A (p.Ala258=) c.1869T>A (p.Ala623=) c.1584T>A (p.Ala528=) c.366T>A (p.Ala122=) n.814T>A | gnomAD v4 |
| 17 | g.63488778T>C | CA501187568 | ACE | c.2436T>C (p.Ala812=) c.714T>C (p.Ala238=) c.*506T>C (n.*506T>C) c.695T>C (n.695T>C) c.*165T>C (n.*165T>C) c.*356T>C (n.*356T>C) c.204T>C (p.Ala68=) n.382T>C c.1887T>C (p.Ala629=) c.774T>C (p.Ala258=) c.1869T>C (p.Ala623=) c.1584T>C (p.Ala528=) c.366T>C (p.Ala122=) n.814T>C | gnomAD v4 |
| 17 | g.63488778T>G | CA501187571 | ACE | c.2436T>G (p.Ala812=) c.714T>G (p.Ala238=) c.*506T>G (n.*506T>G) c.695T>G (n.695T>G) c.*165T>G (n.*165T>G) c.*356T>G (n.*356T>G) c.204T>G (p.Ala68=) n.382T>G c.1887T>G (p.Ala629=) c.774T>G (p.Ala258=) c.1869T>G (p.Ala623=) c.1584T>G (p.Ala528=) c.366T>G (p.Ala122=) n.814T>G | |
| 17 | g.63488779G>A | CA400558068 | ACE | c.2437G>A (p.Ala813Thr) c.715G>A (p.Ala239Thr) c.*507G>A (n.*507G>A) c.696G>A (n.696G>A) c.*166G>A (n.*166G>A) c.*357G>A (n.*357G>A) c.205G>A (p.Ala69Thr) n.383G>A c.1888G>A (p.Ala630Thr) c.775G>A (p.Ala259Thr) c.1870G>A (p.Ala624Thr) c.1585G>A (p.Ala529Thr) c.367G>A (p.Ala123Thr) n.815G>A | |
| 17 | g.63488779G>C | CA400558066 | ACE | c.2437G>C (p.Ala813Pro) c.715G>C (p.Ala239Pro) c.*507G>C (n.*507G>C) c.696G>C (n.696G>C) c.*166G>C (n.*166G>C) c.*357G>C (n.*357G>C) c.205G>C (p.Ala69Pro) n.383G>C c.1888G>C (p.Ala630Pro) c.775G>C (p.Ala259Pro) c.1870G>C (p.Ala624Pro) c.1585G>C (p.Ala529Pro) c.367G>C (p.Ala123Pro) n.815G>C | |
| 17 | g.63488779G>T | CA400558067 | ACE | c.2437G>T (p.Ala813Ser) c.715G>T (p.Ala239Ser) c.*507G>T (n.*507G>T) c.696G>T (n.696G>T) c.*166G>T (n.*166G>T) c.*357G>T (n.*357G>T) c.205G>T (p.Ala69Ser) n.383G>T c.1888G>T (p.Ala630Ser) c.775G>T (p.Ala259Ser) c.1870G>T (p.Ala624Ser) c.1585G>T (p.Ala529Ser) c.367G>T (p.Ala123Ser) n.815G>T | gnomAD v4 |
| 17 | g.63488780C>A | CA400558069 | ACE | c.2438C>A (p.Ala813Asp) c.716C>A (p.Ala239Asp) c.*508C>A (n.*508C>A) c.697C>A (n.697C>A) c.*167C>A (n.*167C>A) c.*358C>A (n.*358C>A) c.206C>A (p.Ala69Asp) n.384C>A c.1889C>A (p.Ala630Asp) c.776C>A (p.Ala259Asp) c.1871C>A (p.Ala624Asp) c.1586C>A (p.Ala529Asp) c.368C>A (p.Ala123Asp) n.816C>A | |
| 17 | g.63488780C>G | CA400558070 | ACE | c.2438C>G (p.Ala813Gly) c.716C>G (p.Ala239Gly) c.*508C>G (n.*508C>G) c.697C>G (n.697C>G) c.*167C>G (n.*167C>G) c.*358C>G (n.*358C>G) c.206C>G (p.Ala69Gly) n.384C>G c.1889C>G (p.Ala630Gly) c.776C>G (p.Ala259Gly) c.1871C>G (p.Ala624Gly) c.1586C>G (p.Ala529Gly) c.368C>G (p.Ala123Gly) n.816C>G | |
| 17 | g.63488780C>T | CA400558071 | ACE | c.2438C>T (p.Ala813Val) c.716C>T (p.Ala239Val) c.*508C>T (n.*508C>T) c.697C>T (n.697C>T) c.*167C>T (n.*167C>T) c.*358C>T (n.*358C>T) c.206C>T (p.Ala69Val) n.384C>T c.1889C>T (p.Ala630Val) c.776C>T (p.Ala259Val) c.1871C>T (p.Ala624Val) c.1586C>T (p.Ala529Val) c.368C>T (p.Ala123Val) n.816C>T | |
| 17 | g.63488781C>A | CA501187583 | ACE | c.2439C>A (p.Ala813=) c.717C>A (p.Ala239=) c.*509C>A (n.*509C>A) c.698C>A (n.698C>A) c.*168C>A (n.*168C>A) c.*359C>A (n.*359C>A) c.207C>A (p.Ala69=) n.385C>A c.1890C>A (p.Ala630=) c.777C>A (p.Ala259=) c.1872C>A (p.Ala624=) c.1587C>A (p.Ala529=) c.369C>A (p.Ala123=) n.817C>A | |
| 17 | g.63488781C>G | CA501187585 | ACE | c.2439C>G (p.Ala813=) c.717C>G (p.Ala239=) c.*509C>G (n.*509C>G) c.698C>G (n.698C>G) c.*168C>G (n.*168C>G) c.*359C>G (n.*359C>G) c.207C>G (p.Ala69=) n.385C>G c.1890C>G (p.Ala630=) c.777C>G (p.Ala259=) c.1872C>G (p.Ala624=) c.1587C>G (p.Ala529=) c.369C>G (p.Ala123=) n.817C>G | |
| 17 | g.63488781C>T | CA501187588 | ACE | c.2439C>T (p.Ala813=) c.717C>T (p.Ala239=) c.*509C>T (n.*509C>T) c.698C>T (n.698C>T) c.*168C>T (n.*168C>T) c.*359C>T (n.*359C>T) c.207C>T (p.Ala69=) n.385C>T c.1890C>T (p.Ala630=) c.777C>T (p.Ala259=) c.1872C>T (p.Ala624=) c.1587C>T (p.Ala529=) c.369C>T (p.Ala123=) n.817C>T | COSMIC COSMIC COSMIC |
| 17 | g.63488782C>A | CA501187590 | ACE | c.2440C>A (p.Arg814=) c.718C>A (p.Arg240=) c.*510C>A (n.*510C>A) c.699C>A (n.699C>A) c.*169C>A (n.*169C>A) c.*360C>A (n.*360C>A) c.208C>A (p.Arg70=) n.386C>A c.1891C>A (p.Arg631=) c.778C>A (p.Arg260=) c.1873C>A (p.Arg625=) c.1588C>A (p.Arg530=) c.370C>A (p.Arg124=) n.818C>A | |
| 17 | g.63488782C= | CA2269945991 | ACE | c.2440C= (p.Arg814=) c.718C= (p.Arg240=) c.*510C= (n.*510C=) c.699C= (n.699C=) c.*169C= (n.*169C=) c.*360C= (n.*360C=) c.208C= (p.Arg70=) n.386C= c.1891C= (p.Arg631=) c.778C= (p.Arg260=) c.1873C= (p.Arg625=) c.1588C= (p.Arg530=) c.370C= (p.Arg124=) n.818C= | |
| 17 | g.63488782C>G | CA400558073 | ACE | c.2440C>G (p.Arg814Gly) c.718C>G (p.Arg240Gly) c.*510C>G (n.*510C>G) c.699C>G (n.699C>G) c.*169C>G (n.*169C>G) c.*360C>G (n.*360C>G) c.208C>G (p.Arg70Gly) n.386C>G c.1891C>G (p.Arg631Gly) c.778C>G (p.Arg260Gly) c.1873C>G (p.Arg625Gly) c.1588C>G (p.Arg530Gly) c.370C>G (p.Arg124Gly) n.818C>G | |
| 17 | g.63488782C>T | CA8700094 | ACE | c.2440C>T (p.Arg814Trp) c.718C>T (p.Arg240Trp) c.*510C>T (n.*510C>T) c.699C>T (n.699C>T) c.*169C>T (n.*169C>T) c.*360C>T (n.*360C>T) c.208C>T (p.Arg70Trp) n.386C>T c.1891C>T (p.Arg631Trp) c.778C>T (p.Arg260Trp) c.1873C>T (p.Arg625Trp) c.1588C>T (p.Arg530Trp) c.370C>T (p.Arg124Trp) n.818C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488783G>A | CA8700095 | ACE | c.2441G>A (p.Arg814Gln) c.719G>A (p.Arg240Gln) c.*511G>A (n.*511G>A) c.700G>A (n.700G>A) c.*170G>A (n.*170G>A) c.*361G>A (n.*361G>A) c.209G>A (p.Arg70Gln) n.387G>A c.1892G>A (p.Arg631Gln) c.779G>A (p.Arg260Gln) c.1874G>A (p.Arg625Gln) c.1589G>A (p.Arg530Gln) c.371G>A (p.Arg124Gln) n.819G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488783G>C | CA400558074 | ACE | c.2441G>C (p.Arg814Pro) c.719G>C (p.Arg240Pro) c.*511G>C (n.*511G>C) c.700G>C (n.700G>C) c.*170G>C (n.*170G>C) c.*361G>C (n.*361G>C) c.209G>C (p.Arg70Pro) n.387G>C c.1892G>C (p.Arg631Pro) c.779G>C (p.Arg260Pro) c.1874G>C (p.Arg625Pro) c.1589G>C (p.Arg530Pro) c.371G>C (p.Arg124Pro) n.819G>C | |
| 17 | g.63488783G= | CA2269945992 | ACE | c.2441G= (p.Arg814=) c.719G= (p.Arg240=) c.*511G= (n.*511G=) c.700G= (n.700G=) c.*170G= (n.*170G=) c.*361G= (n.*361G=) c.209G= (p.Arg70=) n.387G= c.1892G= (p.Arg631=) c.779G= (p.Arg260=) c.1874G= (p.Arg625=) c.1589G= (p.Arg530=) c.371G= (p.Arg124=) n.819G= | |
| 17 | g.63488783G>T | CA400558075 | ACE | c.2441G>T (p.Arg814Leu) c.719G>T (p.Arg240Leu) c.*511G>T (n.*511G>T) c.700G>T (n.700G>T) c.*170G>T (n.*170G>T) c.*361G>T (n.*361G>T) c.209G>T (p.Arg70Leu) n.387G>T c.1892G>T (p.Arg631Leu) c.779G>T (p.Arg260Leu) c.1874G>T (p.Arg625Leu) c.1589G>T (p.Arg530Leu) c.371G>T (p.Arg124Leu) n.819G>T | |
| 17 | g.63488784G>A | CA8700096 | ACE | c.2442G>A (p.Arg814=) c.720G>A (p.Arg240=) c.*512G>A (n.*512G>A) c.701G>A (n.701G>A) c.*171G>A (n.*171G>A) c.*362G>A (n.*362G>A) c.210G>A (p.Arg70=) n.388G>A c.1893G>A (p.Arg631=) c.780G>A (p.Arg260=) c.1875G>A (p.Arg625=) c.1590G>A (p.Arg530=) c.372G>A (p.Arg124=) n.820G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488784G>C | CA501187610 | ACE | c.2442G>C (p.Arg814=) c.720G>C (p.Arg240=) c.*512G>C (n.*512G>C) c.701G>C (n.701G>C) c.*171G>C (n.*171G>C) c.*362G>C (n.*362G>C) c.210G>C (p.Arg70=) n.388G>C c.1893G>C (p.Arg631=) c.780G>C (p.Arg260=) c.1875G>C (p.Arg625=) c.1590G>C (p.Arg530=) c.372G>C (p.Arg124=) n.820G>C | |
| 17 | g.63488784G= | CA2269945993 | ACE | c.2442G= (p.Arg814=) c.720G= (p.Arg240=) c.*512G= (n.*512G=) c.701G= (n.701G=) c.*171G= (n.*171G=) c.*362G= (n.*362G=) c.210G= (p.Arg70=) n.388G= c.1893G= (p.Arg631=) c.780G= (p.Arg260=) c.1875G= (p.Arg625=) c.1590G= (p.Arg530=) c.372G= (p.Arg124=) n.820G= | |
| 17 | g.63488784G>T | CA501187605 | ACE | c.2442G>T (p.Arg814=) c.720G>T (p.Arg240=) c.*512G>T (n.*512G>T) c.701G>T (n.701G>T) c.*171G>T (n.*171G>T) c.*362G>T (n.*362G>T) c.210G>T (p.Arg70=) n.388G>T c.1893G>T (p.Arg631=) c.780G>T (p.Arg260=) c.1875G>T (p.Arg625=) c.1590G>T (p.Arg530=) c.372G>T (p.Arg124=) n.820G>T | |
| 17 | g.63488785C>A | CA400558078 | ACE | c.2443C>A (p.Leu815Ile) c.721C>A (p.Leu241Ile) c.*513C>A (n.*513C>A) c.702C>A (n.702C>A) c.*172C>A (n.*172C>A) c.*363C>A (n.*363C>A) c.211C>A (p.Leu71Ile) n.389C>A c.1894C>A (p.Leu632Ile) c.781C>A (p.Leu261Ile) c.1876C>A (p.Leu626Ile) c.1591C>A (p.Leu531Ile) c.373C>A (p.Leu125Ile) n.821C>A | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.63488785C= | CA2269945994 | ACE | c.2443C= (p.Leu815=) c.721C= (p.Leu241=) c.*513C= (n.*513C=) c.702C= (n.702C=) c.*172C= (n.*172C=) c.*363C= (n.*363C=) c.211C= (p.Leu71=) n.389C= c.1894C= (p.Leu632=) c.781C= (p.Leu261=) c.1876C= (p.Leu626=) c.1591C= (p.Leu531=) c.373C= (p.Leu125=) n.821C= | |
| 17 | g.63488785C>G | CA400558080 | ACE | c.2443C>G (p.Leu815Val) c.721C>G (p.Leu241Val) c.*513C>G (n.*513C>G) c.702C>G (n.702C>G) c.*172C>G (n.*172C>G) c.*363C>G (n.*363C>G) c.211C>G (p.Leu71Val) n.389C>G c.1894C>G (p.Leu632Val) c.781C>G (p.Leu261Val) c.1876C>G (p.Leu626Val) c.1591C>G (p.Leu531Val) c.373C>G (p.Leu125Val) n.821C>G | gnomAD v4 |
| 17 | g.63488785C>T | CA292883514 | ACE | c.2443C>T (p.Leu815Phe) c.721C>T (p.Leu241Phe) c.*513C>T (n.*513C>T) c.702C>T (n.702C>T) c.*172C>T (n.*172C>T) c.*363C>T (n.*363C>T) c.211C>T (p.Leu71Phe) n.389C>T c.1894C>T (p.Leu632Phe) c.781C>T (p.Leu261Phe) c.1876C>T (p.Leu626Phe) c.1591C>T (p.Leu531Phe) c.373C>T (p.Leu125Phe) n.821C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488786T>A | CA400558084 | ACE | c.2444T>A (p.Leu815His) c.722T>A (p.Leu241His) c.*514T>A (n.*514T>A) c.703T>A (n.703T>A) c.*173T>A (n.*173T>A) c.*364T>A (n.*364T>A) c.212T>A (p.Leu71His) n.390T>A c.1895T>A (p.Leu632His) c.782T>A (p.Leu261His) c.1877T>A (p.Leu626His) c.1592T>A (p.Leu531His) c.374T>A (p.Leu125His) n.822T>A | |
| 17 | g.63488786T>C | CA400558086 | ACE | c.2444T>C (p.Leu815Pro) c.722T>C (p.Leu241Pro) c.*514T>C (n.*514T>C) c.703T>C (n.703T>C) c.*173T>C (n.*173T>C) c.*364T>C (n.*364T>C) c.212T>C (p.Leu71Pro) n.390T>C c.1895T>C (p.Leu632Pro) c.782T>C (p.Leu261Pro) c.1877T>C (p.Leu626Pro) c.1592T>C (p.Leu531Pro) c.374T>C (p.Leu125Pro) n.822T>C | |
| 17 | g.63488786T>G | CA400558085 | ACE | c.2444T>G (p.Leu815Arg) c.722T>G (p.Leu241Arg) c.*514T>G (n.*514T>G) c.703T>G (n.703T>G) c.*173T>G (n.*173T>G) c.*364T>G (n.*364T>G) c.212T>G (p.Leu71Arg) n.390T>G c.1895T>G (p.Leu632Arg) c.782T>G (p.Leu261Arg) c.1877T>G (p.Leu626Arg) c.1592T>G (p.Leu531Arg) c.374T>G (p.Leu125Arg) n.822T>G | |
| 17 | g.63488787C>A | CA501187621 | ACE | c.2445C>A (p.Leu815=) c.723C>A (p.Leu241=) c.*515C>A (n.*515C>A) c.704C>A (n.704C>A) c.*174C>A (n.*174C>A) c.*365C>A (n.*365C>A) c.213C>A (p.Leu71=) n.391C>A c.1896C>A (p.Leu632=) c.783C>A (p.Leu261=) c.1878C>A (p.Leu626=) c.1593C>A (p.Leu531=) c.375C>A (p.Leu125=) n.823C>A | |
| 17 | g.63488787C= | CA2269945995 | ACE | c.2445C= (p.Leu815=) c.723C= (p.Leu241=) c.*515C= (n.*515C=) c.704C= (n.704C=) c.*174C= (n.*174C=) c.*365C= (n.*365C=) c.213C= (p.Leu71=) n.391C= c.1896C= (p.Leu632=) c.783C= (p.Leu261=) c.1878C= (p.Leu626=) c.1593C= (p.Leu531=) c.375C= (p.Leu125=) n.823C= | |
| 17 | g.63488787C>G | CA501187624 | ACE | c.2445C>G (p.Leu815=) c.723C>G (p.Leu241=) c.*515C>G (n.*515C>G) c.704C>G (n.704C>G) c.*174C>G (n.*174C>G) c.*365C>G (n.*365C>G) c.213C>G (p.Leu71=) n.391C>G c.1896C>G (p.Leu632=) c.783C>G (p.Leu261=) c.1878C>G (p.Leu626=) c.1593C>G (p.Leu531=) c.375C>G (p.Leu125=) n.823C>G | |
| 17 | g.63488787C>T | CA8700097 | ACE | c.2445C>T (p.Leu815=) c.723C>T (p.Leu241=) c.*515C>T (n.*515C>T) c.704C>T (n.704C>T) c.*174C>T (n.*174C>T) c.*365C>T (n.*365C>T) c.213C>T (p.Leu71=) n.391C>T c.1896C>T (p.Leu632=) c.783C>T (p.Leu261=) c.1878C>T (p.Leu626=) c.1593C>T (p.Leu531=) c.375C>T (p.Leu125=) n.823C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488788A>C | CA400558090 | ACE | c.2446A>C (p.Asn816His) c.724A>C (p.Asn242His) c.*516A>C (n.*516A>C) c.705A>C (n.705A>C) c.*175A>C (n.*175A>C) c.*366A>C (n.*366A>C) c.214A>C (p.Asn72His) n.392A>C c.1897A>C (p.Asn633His) c.784A>C (p.Asn262His) c.1879A>C (p.Asn627His) c.1594A>C (p.Asn532His) c.376A>C (p.Asn126His) n.824A>C | |
| 17 | g.63488788A>G | CA400558091 | ACE | c.2446A>G (p.Asn816Asp) c.724A>G (p.Asn242Asp) c.*516A>G (n.*516A>G) c.705A>G (n.705A>G) c.*175A>G (n.*175A>G) c.*366A>G (n.*366A>G) c.214A>G (p.Asn72Asp) n.392A>G c.1897A>G (p.Asn633Asp) c.784A>G (p.Asn262Asp) c.1879A>G (p.Asn627Asp) c.1594A>G (p.Asn532Asp) c.376A>G (p.Asn126Asp) n.824A>G | |
| 17 | g.63488788A>T | CA400558093 | ACE | c.2446A>T (p.Asn816Tyr) c.724A>T (p.Asn242Tyr) c.*516A>T (n.*516A>T) c.705A>T (n.705A>T) c.*175A>T (n.*175A>T) c.*366A>T (n.*366A>T) c.214A>T (p.Asn72Tyr) n.392A>T c.1897A>T (p.Asn633Tyr) c.784A>T (p.Asn262Tyr) c.1879A>T (p.Asn627Tyr) c.1594A>T (p.Asn532Tyr) c.376A>T (p.Asn126Tyr) n.824A>T | |
| 17 | g.63488789A= | CA2269945996 | ACE | c.2447A= (p.Asn816=) c.725A= (p.Asn242=) c.*517A= (n.*517A=) c.706A= (n.706A=) c.*176A= (n.*176A=) c.*367A= (n.*367A=) c.215A= (p.Asn72=) n.393A= c.1898A= (p.Asn633=) c.785A= (p.Asn262=) c.1880A= (p.Asn627=) c.1595A= (p.Asn532=) c.377A= (p.Asn126=) n.825A= | |
| 17 | g.63488789A>C | CA400558095 | ACE | c.2447A>C (p.Asn816Thr) c.725A>C (p.Asn242Thr) c.*517A>C (n.*517A>C) c.706A>C (n.706A>C) c.*176A>C (n.*176A>C) c.*367A>C (n.*367A>C) c.215A>C (p.Asn72Thr) n.393A>C c.1898A>C (p.Asn633Thr) c.785A>C (p.Asn262Thr) c.1880A>C (p.Asn627Thr) c.1595A>C (p.Asn532Thr) c.377A>C (p.Asn126Thr) n.825A>C | |
| 17 | g.63488789A>G | CA8700098 | ACE | c.2447A>G (p.Asn816Ser) c.725A>G (p.Asn242Ser) c.*517A>G (n.*517A>G) c.706A>G (n.706A>G) c.*176A>G (n.*176A>G) c.*367A>G (n.*367A>G) c.215A>G (p.Asn72Ser) n.393A>G c.1898A>G (p.Asn633Ser) c.785A>G (p.Asn262Ser) c.1880A>G (p.Asn627Ser) c.1595A>G (p.Asn532Ser) c.377A>G (p.Asn126Ser) n.825A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63488789A>T | CA400558097 | ACE | c.2447A>T (p.Asn816Ile) c.725A>T (p.Asn242Ile) c.*517A>T (n.*517A>T) c.706A>T (n.706A>T) c.*176A>T (n.*176A>T) c.*367A>T (n.*367A>T) c.215A>T (p.Asn72Ile) n.393A>T c.1898A>T (p.Asn633Ile) c.785A>T (p.Asn262Ile) c.1880A>T (p.Asn627Ile) c.1595A>T (p.Asn532Ile) c.377A>T (p.Asn126Ile) n.825A>T | |
| 17 | g.63488790T>A | CA400558100 | ACE | c.2448T>A (p.Asn816Lys) c.726T>A (p.Asn242Lys) c.*518T>A (n.*518T>A) c.707T>A (n.707T>A) c.*177T>A (n.*177T>A) c.*368T>A (n.*368T>A) c.216T>A (p.Asn72Lys) n.394T>A c.1899T>A (p.Asn633Lys) c.786T>A (p.Asn262Lys) c.1881T>A (p.Asn627Lys) c.1596T>A (p.Asn532Lys) c.378T>A (p.Asn126Lys) n.826T>A | |
| 17 | g.63488790T>C | CA501187639 | ACE | c.2448T>C (p.Asn816=) c.726T>C (p.Asn242=) c.*518T>C (n.*518T>C) c.707T>C (n.707T>C) c.*177T>C (n.*177T>C) c.*368T>C (n.*368T>C) c.216T>C (p.Asn72=) n.394T>C c.1899T>C (p.Asn633=) c.786T>C (p.Asn262=) c.1881T>C (p.Asn627=) c.1596T>C (p.Asn532=) c.378T>C (p.Asn126=) n.826T>C | |
| 17 | g.63488790T>G | CA400558102 | ACE | c.2448T>G (p.Asn816Lys) c.726T>G (p.Asn242Lys) c.*518T>G (n.*518T>G) c.707T>G (n.707T>G) c.*177T>G (n.*177T>G) c.*368T>G (n.*368T>G) c.216T>G (p.Asn72Lys) n.394T>G c.1899T>G (p.Asn633Lys) c.786T>G (p.Asn262Lys) c.1881T>G (p.Asn627Lys) c.1596T>G (p.Asn532Lys) c.378T>G (p.Asn126Lys) n.826T>G | |
| 17 | g.63488791G>A | CA400558103 | ACE | c.2449G>A (p.Gly817Ser) c.727G>A (p.Gly243Ser) c.*519G>A (n.*519G>A) c.708G>A (n.708G>A) c.*178G>A (n.*178G>A) c.*369G>A (n.*369G>A) c.217G>A (p.Gly73Ser) n.395G>A c.1900G>A (p.Gly634Ser) c.787G>A (p.Gly263Ser) c.1882G>A (p.Gly628Ser) c.1597G>A (p.Gly533Ser) c.379G>A (p.Gly127Arg) n.827G>A | |
| 17 | g.63488791G>C | CA400558105 | ACE | c.2449G>C (p.Gly817Arg) c.727G>C (p.Gly243Arg) c.*519G>C (n.*519G>C) c.708G>C (n.708G>C) c.*178G>C (n.*178G>C) c.*369G>C (n.*369G>C) c.217G>C (p.Gly73Arg) n.395G>C c.1900G>C (p.Gly634Arg) c.787G>C (p.Gly263Arg) c.1882G>C (p.Gly628Arg) c.1597G>C (p.Gly533Arg) c.379G>C (p.Gly127Arg) n.827G>C | |
| 17 | g.63488791G>T | CA400558107 | ACE | c.2449G>T (p.Gly817Cys) c.727G>T (p.Gly243Cys) c.*519G>T (n.*519G>T) c.708G>T (n.708G>T) c.*178G>T (n.*178G>T) c.*369G>T (n.*369G>T) c.217G>T (p.Gly73Cys) n.395G>T c.1900G>T (p.Gly634Cys) c.787G>T (p.Gly263Cys) c.1882G>T (p.Gly628Cys) c.1597G>T (p.Gly533Cys) c.379G>T (p.Gly127Trp) n.827G>T |