| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63488656_63488671del | CA985411614 | ACE | c.2314_2329del (p.Asn772ProfsTer?) c.592_607del (p.Asn198ProfsTer?) c.*384_*399del (n.*384_*399del) c.573_588del (n.573_588del) c.*43_*58del (n.*43_*58del) c.*234_*249del (n.*234_*249del) c.82_97del (p.Asn28ProfsTer?) n.260_275del c.1765_1780del (p.Asn589ProfsTer?) c.652_667del (p.Asn218ProfsTer?) c.1747_1762del (p.Asn583ProfsTer?) c.1462_1477del (p.Asn488ProfsTer?) c.244_259del (p.Asn82ProfsTer?) n.692_707del | gnomAD v3 gnomAD v4 |
| 17 | g.63488670G>A | CA8700063 | ACE | c.2328G>A (p.Thr776=) c.606G>A (p.Thr202=) c.*398G>A (n.*398G>A) c.587G>A (n.587G>A) c.*57G>A (n.*57G>A) c.*248G>A (n.*248G>A) c.96G>A (p.Thr32=) n.274G>A c.1779G>A (p.Thr593=) c.666G>A (p.Thr222=) c.1761G>A (p.Thr587=) c.1476G>A (p.Thr492=) c.258G>A (p.Thr86=) n.706G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488670G>C | CA501186757 | ACE | c.2328G>C (p.Thr776=) c.606G>C (p.Thr202=) c.*398G>C (n.*398G>C) c.587G>C (n.587G>C) c.*57G>C (n.*57G>C) c.*248G>C (n.*248G>C) c.96G>C (p.Thr32=) n.274G>C c.1779G>C (p.Thr593=) c.666G>C (p.Thr222=) c.1761G>C (p.Thr587=) c.1476G>C (p.Thr492=) c.258G>C (p.Thr86=) n.706G>C | gnomAD v3 gnomAD v4 |
| 17 | g.63488670G= | CA2269945938 | ACE | c.2328G= (p.Thr776=) c.606G= (p.Thr202=) c.*398G= (n.*398G=) c.587G= (n.587G=) c.*57G= (n.*57G=) c.*248G= (n.*248G=) c.96G= (p.Thr32=) n.274G= c.1779G= (p.Thr593=) c.666G= (p.Thr222=) c.1761G= (p.Thr587=) c.1476G= (p.Thr492=) c.258G= (p.Thr86=) n.706G= | |
| 17 | g.63488670G>T | CA501186763 | ACE | c.2328G>T (p.Thr776=) c.606G>T (p.Thr202=) c.*398G>T (n.*398G>T) c.587G>T (n.587G>T) c.*57G>T (n.*57G>T) c.*248G>T (n.*248G>T) c.96G>T (p.Thr32=) n.274G>T c.1779G>T (p.Thr593=) c.666G>T (p.Thr222=) c.1761G>T (p.Thr587=) c.1476G>T (p.Thr492=) c.258G>T (p.Thr86=) n.706G>T | gnomAD v4 |
| 17 | g.63488671T>A | CA400557833 | ACE | c.2329T>A (p.Ser777Thr) c.607T>A (p.Ser203Thr) c.*399T>A (n.*399T>A) c.588T>A (n.588T>A) c.*58T>A (n.*58T>A) c.*249T>A (n.*249T>A) c.97T>A (p.Ser33Thr) n.275T>A c.1780T>A (p.Ser594Thr) c.667T>A (p.Ser223Thr) c.1762T>A (p.Ser588Thr) c.1477T>A (p.Ser493Thr) c.259T>A (p.Ser87Thr) n.707T>A | |
| 17 | g.63488671T>C | CA400557831 | ACE | c.2329T>C (p.Ser777Pro) c.607T>C (p.Ser203Pro) c.*399T>C (n.*399T>C) c.588T>C (n.588T>C) c.*58T>C (n.*58T>C) c.*249T>C (n.*249T>C) c.97T>C (p.Ser33Pro) n.275T>C c.1780T>C (p.Ser594Pro) c.667T>C (p.Ser223Pro) c.1762T>C (p.Ser588Pro) c.1477T>C (p.Ser493Pro) c.259T>C (p.Ser87Pro) n.707T>C | |
| 17 | g.63488671T>G | CA400557832 | ACE | c.2329T>G (p.Ser777Ala) c.607T>G (p.Ser203Ala) c.*399T>G (n.*399T>G) c.588T>G (n.588T>G) c.*58T>G (n.*58T>G) c.*249T>G (n.*249T>G) c.97T>G (p.Ser33Ala) n.275T>G c.1780T>G (p.Ser594Ala) c.667T>G (p.Ser223Ala) c.1762T>G (p.Ser588Ala) c.1477T>G (p.Ser493Ala) c.259T>G (p.Ser87Ala) n.707T>G | |
| 17 | g.63488672C>A | CA400557834 | ACE | c.2330C>A (p.Ser777Tyr) c.608C>A (p.Ser203Tyr) c.*400C>A (n.*400C>A) c.589C>A (n.589C>A) c.*59C>A (n.*59C>A) c.*250C>A (n.*250C>A) c.98C>A (p.Ser33Tyr) n.276C>A c.1781C>A (p.Ser594Tyr) c.668C>A (p.Ser223Tyr) c.1763C>A (p.Ser588Tyr) c.1478C>A (p.Ser493Tyr) c.260C>A (p.Ser87Tyr) n.708C>A | |
| 17 | g.63488672C>G | CA400557835 | ACE | c.2330C>G (p.Ser777Cys) c.608C>G (p.Ser203Cys) c.*400C>G (n.*400C>G) c.589C>G (n.589C>G) c.*59C>G (n.*59C>G) c.*250C>G (n.*250C>G) c.98C>G (p.Ser33Cys) n.276C>G c.1781C>G (p.Ser594Cys) c.668C>G (p.Ser223Cys) c.1763C>G (p.Ser588Cys) c.1478C>G (p.Ser493Cys) c.260C>G (p.Ser87Cys) n.708C>G | |
| 17 | g.63488672C>T | CA400557836 | ACE | c.2330C>T (p.Ser777Phe) c.608C>T (p.Ser203Phe) c.*400C>T (n.*400C>T) c.589C>T (n.589C>T) c.*59C>T (n.*59C>T) c.*250C>T (n.*250C>T) c.98C>T (p.Ser33Phe) n.276C>T c.1781C>T (p.Ser594Phe) c.668C>T (p.Ser223Phe) c.1763C>T (p.Ser588Phe) c.1478C>T (p.Ser493Phe) c.260C>T (p.Ser87Phe) n.708C>T | |
| 17 | g.63488673C>A | CA501186775 | ACE | c.2331C>A (p.Ser777=) c.609C>A (p.Ser203=) c.*401C>A (n.*401C>A) c.590C>A (n.590C>A) c.*60C>A (n.*60C>A) c.*251C>A (n.*251C>A) c.99C>A (p.Ser33=) n.277C>A c.1782C>A (p.Ser594=) c.669C>A (p.Ser223=) c.1764C>A (p.Ser588=) c.1479C>A (p.Ser493=) c.261C>A (p.Ser87=) n.709C>A | |
| 17 | g.63488673C>G | CA501186777 | ACE | c.2331C>G (p.Ser777=) c.609C>G (p.Ser203=) c.*401C>G (n.*401C>G) c.590C>G (n.590C>G) c.*60C>G (n.*60C>G) c.*251C>G (n.*251C>G) c.99C>G (p.Ser33=) n.277C>G c.1782C>G (p.Ser594=) c.669C>G (p.Ser223=) c.1764C>G (p.Ser588=) c.1479C>G (p.Ser493=) c.261C>G (p.Ser87=) n.709C>G | |
| 17 | g.63488673C>T | CA501186779 | ACE | c.2331C>T (p.Ser777=) c.609C>T (p.Ser203=) c.*401C>T (n.*401C>T) c.590C>T (n.590C>T) c.*60C>T (n.*60C>T) c.*251C>T (n.*251C>T) c.99C>T (p.Ser33=) n.277C>T c.1782C>T (p.Ser594=) c.669C>T (p.Ser223=) c.1764C>T (p.Ser588=) c.1479C>T (p.Ser493=) c.261C>T (p.Ser87=) n.709C>T | |
| 17 | g.63488674C>A | CA501186782 | ACE | c.2332C>A (p.Arg778=) c.610C>A (p.Arg204=) c.*402C>A (n.*402C>A) c.591C>A (n.591C>A) c.*61C>A (n.*61C>A) c.*252C>A (n.*252C>A) c.100C>A (p.Arg34=) n.278C>A c.1783C>A (p.Arg595=) c.670C>A (p.Arg224=) c.1765C>A (p.Arg589=) c.1480C>A (p.Arg494=) c.262C>A (p.Arg88=) n.710C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63488674C= | CA2269945939 | ACE | c.2332C= (p.Arg778=) c.610C= (p.Arg204=) c.*402C= (n.*402C=) c.591C= (n.591C=) c.*61C= (n.*61C=) c.*252C= (n.*252C=) c.100C= (p.Arg34=) n.278C= c.1783C= (p.Arg595=) c.670C= (p.Arg224=) c.1765C= (p.Arg589=) c.1480C= (p.Arg494=) c.262C= (p.Arg88=) n.710C= | |
| 17 | g.63488674C>G | CA400557837 | ACE | c.2332C>G (p.Arg778Gly) c.610C>G (p.Arg204Gly) c.*402C>G (n.*402C>G) c.591C>G (n.591C>G) c.*61C>G (n.*61C>G) c.*252C>G (n.*252C>G) c.100C>G (p.Arg34Gly) n.278C>G c.1783C>G (p.Arg595Gly) c.670C>G (p.Arg224Gly) c.1765C>G (p.Arg589Gly) c.1480C>G (p.Arg494Gly) c.262C>G (p.Arg88Gly) n.710C>G | |
| 17 | g.63488674C>T | CA8700064 | ACE | c.2332C>T (p.Arg778Trp) c.610C>T (p.Arg204Trp) c.*402C>T (n.*402C>T) c.591C>T (n.591C>T) c.*61C>T (n.*61C>T) c.*252C>T (n.*252C>T) c.100C>T (p.Arg34Trp) n.278C>T c.1783C>T (p.Arg595Trp) c.670C>T (p.Arg224Trp) c.1765C>T (p.Arg589Trp) c.1480C>T (p.Arg494Trp) c.262C>T (p.Arg88Trp) n.710C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488674_63488675insA | CA985411642 | ACE | c.2332_2333insA (p.Arg778GlnfsTer4) c.610_611insA (p.Arg204GlnfsTer4) c.*402_*403insA (n.*402_*403insA) c.591_592insA (n.591_592insA) c.*61_*62insA (n.*61_*62insA) c.*252_*253insA (n.*252_*253insA) c.100_101insA (p.Arg34GlnfsTer4) n.278_279insA c.1783_1784insA (p.Arg595GlnfsTer4) c.670_671insA (p.Arg224GlnfsTer4) c.1765_1766insA (p.Arg589GlnfsTer4) c.1480_1481insA (p.Arg494GlnfsTer4) c.262_263insA (p.Arg88GlnfsTer4) n.710_711insA | gnomAD v3 gnomAD v4 |
| 17 | g.63488675G>A | CA8700065 | ACE | c.2333G>A (p.Arg778Gln) c.611G>A (p.Arg204Gln) c.*403G>A (n.*403G>A) c.592G>A (n.592G>A) c.*62G>A (n.*62G>A) c.*253G>A (n.*253G>A) c.101G>A (p.Arg34Gln) n.279G>A c.1784G>A (p.Arg595Gln) c.671G>A (p.Arg224Gln) c.1766G>A (p.Arg589Gln) c.1481G>A (p.Arg494Gln) c.263G>A (p.Arg88Gln) n.711G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.63488675G>C | CA400557839 | ACE | c.2333G>C (p.Arg778Pro) c.611G>C (p.Arg204Pro) c.*403G>C (n.*403G>C) c.592G>C (n.592G>C) c.*62G>C (n.*62G>C) c.*253G>C (n.*253G>C) c.101G>C (p.Arg34Pro) n.279G>C c.1784G>C (p.Arg595Pro) c.671G>C (p.Arg224Pro) c.1766G>C (p.Arg589Pro) c.1481G>C (p.Arg494Pro) c.263G>C (p.Arg88Pro) n.711G>C | gnomAD v4 |
| 17 | g.63488675G= | CA2269945940 | ACE | c.2333G= (p.Arg778=) c.611G= (p.Arg204=) c.*403G= (n.*403G=) c.592G= (n.592G=) c.*62G= (n.*62G=) c.*253G= (n.*253G=) c.101G= (p.Arg34=) n.279G= c.1784G= (p.Arg595=) c.671G= (p.Arg224=) c.1766G= (p.Arg589=) c.1481G= (p.Arg494=) c.263G= (p.Arg88=) n.711G= | |
| 17 | g.63488675G>T | CA400557838 | ACE | c.2333G>T (p.Arg778Leu) c.611G>T (p.Arg204Leu) c.*403G>T (n.*403G>T) c.592G>T (n.592G>T) c.*62G>T (n.*62G>T) c.*253G>T (n.*253G>T) c.101G>T (p.Arg34Leu) n.279G>T c.1784G>T (p.Arg595Leu) c.671G>T (p.Arg224Leu) c.1766G>T (p.Arg589Leu) c.1481G>T (p.Arg494Leu) c.263G>T (p.Arg88Leu) n.711G>T | |
| 17 | g.63488676G>A | CA501186793 | ACE | c.2334G>A (p.Arg778=) c.612G>A (p.Arg204=) c.*404G>A (n.*404G>A) c.593G>A (n.593G>A) c.*63G>A (n.*63G>A) c.*254G>A (n.*254G>A) c.102G>A (p.Arg34=) n.280G>A c.1785G>A (p.Arg595=) c.672G>A (p.Arg224=) c.1767G>A (p.Arg589=) c.1482G>A (p.Arg494=) c.264G>A (p.Arg88=) n.712G>A | |
| 17 | g.63488676G>C | CA501186795 | ACE | c.2334G>C (p.Arg778=) c.612G>C (p.Arg204=) c.*404G>C (n.*404G>C) c.593G>C (n.593G>C) c.*63G>C (n.*63G>C) c.*254G>C (n.*254G>C) c.102G>C (p.Arg34=) n.280G>C c.1785G>C (p.Arg595=) c.672G>C (p.Arg224=) c.1767G>C (p.Arg589=) c.1482G>C (p.Arg494=) c.264G>C (p.Arg88=) n.712G>C | |
| 17 | g.63488676G>T | CA501186798 | ACE | c.2334G>T (p.Arg778=) c.612G>T (p.Arg204=) c.*404G>T (n.*404G>T) c.593G>T (n.593G>T) c.*63G>T (n.*63G>T) c.*254G>T (n.*254G>T) c.102G>T (p.Arg34=) n.280G>T c.1785G>T (p.Arg595=) c.672G>T (p.Arg224=) c.1767G>T (p.Arg589=) c.1482G>T (p.Arg494=) c.264G>T (p.Arg88=) n.712G>T | |
| 17 | g.63488677A>C | CA400557840 | ACE | c.2335A>C (p.Lys779Gln) c.613A>C (p.Lys205Gln) c.*405A>C (n.*405A>C) c.594A>C (n.594A>C) c.*64A>C (n.*64A>C) c.*255A>C (n.*255A>C) c.103A>C (p.Lys35Gln) n.281A>C c.1786A>C (p.Lys596Gln) c.673A>C (p.Lys225Gln) c.1768A>C (p.Lys590Gln) c.1483A>C (p.Lys495Gln) c.265A>C (p.Lys89Gln) n.713A>C | |
| 17 | g.63488677A>G | CA400557841 | ACE | c.2335A>G (p.Lys779Glu) c.613A>G (p.Lys205Glu) c.*405A>G (n.*405A>G) c.594A>G (n.594A>G) c.*64A>G (n.*64A>G) c.*255A>G (n.*255A>G) c.103A>G (p.Lys35Glu) n.281A>G c.1786A>G (p.Lys596Glu) c.673A>G (p.Lys225Glu) c.1768A>G (p.Lys590Glu) c.1483A>G (p.Lys495Glu) c.265A>G (p.Lys89Glu) n.713A>G | |
| 17 | g.63488677A>T | CA400557842 | ACE | c.2335A>T (p.Lys779Ter) c.613A>T (p.Lys205Ter) c.*405A>T (n.*405A>T) c.594A>T (n.594A>T) c.*64A>T (n.*64A>T) c.*255A>T (n.*255A>T) c.103A>T (p.Lys35Ter) n.281A>T c.1786A>T (p.Lys596Ter) c.673A>T (p.Lys225Ter) c.1768A>T (p.Lys590Ter) c.1483A>T (p.Lys495Ter) c.265A>T (p.Lys89Ter) n.713A>T | gnomAD v4 |
| 17 | g.63488677_63488688del | CA985411674 | ACE | c.2335_2346del (p.Lys779_Asp782del) c.613_624del (p.Lys205_Asp208del) c.*405_*416del (n.*405_*416del) c.594_605del (n.594_605del) c.*64_*75del (n.*64_*75del) c.*255_*266del (n.*255_*266del) c.103_114del (p.Lys35_Asp38del) n.281_292del c.1786_1797del (p.Lys596_Asp599del) c.673_684del (p.Lys225_Asp228del) c.1768_1779del (p.Lys590_Asp593del) c.1483_1494del (p.Lys495_Asp498del) c.265_276del (p.Lys89_Asp92del) n.713_724del | gnomAD v3 gnomAD v4 |
| 17 | g.63488678A>C | CA400557843 | ACE | c.2336A>C (p.Lys779Thr) c.614A>C (p.Lys205Thr) c.*406A>C (n.*406A>C) c.595A>C (n.595A>C) c.*65A>C (n.*65A>C) c.*256A>C (n.*256A>C) c.104A>C (p.Lys35Thr) n.282A>C c.1787A>C (p.Lys596Thr) c.674A>C (p.Lys225Thr) c.1769A>C (p.Lys590Thr) c.1484A>C (p.Lys495Thr) c.266A>C (p.Lys89Thr) n.714A>C | |
| 17 | g.63488678A>G | CA400557844 | ACE | c.2336A>G (p.Lys779Arg) c.614A>G (p.Lys205Arg) c.*406A>G (n.*406A>G) c.595A>G (n.595A>G) c.*65A>G (n.*65A>G) c.*256A>G (n.*256A>G) c.104A>G (p.Lys35Arg) n.282A>G c.1787A>G (p.Lys596Arg) c.674A>G (p.Lys225Arg) c.1769A>G (p.Lys590Arg) c.1484A>G (p.Lys495Arg) c.266A>G (p.Lys89Arg) n.714A>G | |
| 17 | g.63488678A>T | CA400557845 | ACE | c.2336A>T (p.Lys779Ile) c.614A>T (p.Lys205Ile) c.*406A>T (n.*406A>T) c.595A>T (n.595A>T) c.*65A>T (n.*65A>T) c.*256A>T (n.*256A>T) c.104A>T (p.Lys35Ile) n.282A>T c.1787A>T (p.Lys596Ile) c.674A>T (p.Lys225Ile) c.1769A>T (p.Lys590Ile) c.1484A>T (p.Lys495Ile) c.266A>T (p.Lys89Ile) n.714A>T | |
| 17 | g.63488679A>C | CA400557846 | ACE | c.2337A>C (p.Lys779Asn) c.615A>C (p.Lys205Asn) c.*407A>C (n.*407A>C) c.596A>C (n.596A>C) c.*66A>C (n.*66A>C) c.*257A>C (n.*257A>C) c.105A>C (p.Lys35Asn) n.283A>C c.1788A>C (p.Lys596Asn) c.675A>C (p.Lys225Asn) c.1770A>C (p.Lys590Asn) c.1485A>C (p.Lys495Asn) c.267A>C (p.Lys89Asn) n.715A>C | |
| 17 | g.63488679A>G | CA501186810 | ACE | c.2337A>G (p.Lys779=) c.615A>G (p.Lys205=) c.*407A>G (n.*407A>G) c.596A>G (n.596A>G) c.*66A>G (n.*66A>G) c.*257A>G (n.*257A>G) c.105A>G (p.Lys35=) n.283A>G c.1788A>G (p.Lys596=) c.675A>G (p.Lys225=) c.1770A>G (p.Lys590=) c.1485A>G (p.Lys495=) c.267A>G (p.Lys89=) n.715A>G | |
| 17 | g.63488679A>T | CA400557847 | ACE | c.2337A>T (p.Lys779Asn) c.615A>T (p.Lys205Asn) c.*407A>T (n.*407A>T) c.596A>T (n.596A>T) c.*66A>T (n.*66A>T) c.*257A>T (n.*257A>T) c.105A>T (p.Lys35Asn) n.283A>T c.1788A>T (p.Lys596Asn) c.675A>T (p.Lys225Asn) c.1770A>T (p.Lys590Asn) c.1485A>T (p.Lys495Asn) c.267A>T (p.Lys89Asn) n.715A>T | |
| 17 | g.63488680T>A | CA400557848 | ACE | c.2338T>A (p.Tyr780Asn) c.616T>A (p.Tyr206Asn) c.*408T>A (n.*408T>A) c.597T>A (n.597T>A) c.*67T>A (n.*67T>A) c.*258T>A (n.*258T>A) c.106T>A (p.Tyr36Asn) n.284T>A c.1789T>A (p.Tyr597Asn) c.676T>A (p.Tyr226Asn) c.1771T>A (p.Tyr591Asn) c.1486T>A (p.Tyr496Asn) c.268T>A (p.Tyr90Asn) n.716T>A | |
| 17 | g.63488680T>C | CA400557849 | ACE | c.2338T>C (p.Tyr780His) c.616T>C (p.Tyr206His) c.*408T>C (n.*408T>C) c.597T>C (n.597T>C) c.*67T>C (n.*67T>C) c.*258T>C (n.*258T>C) c.106T>C (p.Tyr36His) n.284T>C c.1789T>C (p.Tyr597His) c.676T>C (p.Tyr226His) c.1771T>C (p.Tyr591His) c.1486T>C (p.Tyr496His) c.268T>C (p.Tyr90His) n.716T>C | gnomAD v4 |
| 17 | g.63488680T>G | CA400557850 | ACE | c.2338T>G (p.Tyr780Asp) c.616T>G (p.Tyr206Asp) c.*408T>G (n.*408T>G) c.597T>G (n.597T>G) c.*67T>G (n.*67T>G) c.*258T>G (n.*258T>G) c.106T>G (p.Tyr36Asp) n.284T>G c.1789T>G (p.Tyr597Asp) c.676T>G (p.Tyr226Asp) c.1771T>G (p.Tyr591Asp) c.1486T>G (p.Tyr496Asp) c.268T>G (p.Tyr90Asp) n.716T>G | |
| 17 | g.63488681A>C | CA400557851 | ACE | c.2339A>C (p.Tyr780Ser) c.617A>C (p.Tyr206Ser) c.*409A>C (n.*409A>C) c.598A>C (n.598A>C) c.*68A>C (n.*68A>C) c.*259A>C (n.*259A>C) c.107A>C (p.Tyr36Ser) n.285A>C c.1790A>C (p.Tyr597Ser) c.677A>C (p.Tyr226Ser) c.1772A>C (p.Tyr591Ser) c.1487A>C (p.Tyr496Ser) c.269A>C (p.Tyr90Ser) n.717A>C | |
| 17 | g.63488681A>G | CA400557853 | ACE | c.2339A>G (p.Tyr780Cys) c.617A>G (p.Tyr206Cys) c.*409A>G (n.*409A>G) c.598A>G (n.598A>G) c.*68A>G (n.*68A>G) c.*259A>G (n.*259A>G) c.107A>G (p.Tyr36Cys) n.285A>G c.1790A>G (p.Tyr597Cys) c.677A>G (p.Tyr226Cys) c.1772A>G (p.Tyr591Cys) c.1487A>G (p.Tyr496Cys) c.269A>G (p.Tyr90Cys) n.717A>G | gnomAD v4 |
| 17 | g.63488681A>T | CA400557852 | ACE | c.2339A>T (p.Tyr780Phe) c.617A>T (p.Tyr206Phe) c.*409A>T (n.*409A>T) c.598A>T (n.598A>T) c.*68A>T (n.*68A>T) c.*259A>T (n.*259A>T) c.107A>T (p.Tyr36Phe) n.285A>T c.1790A>T (p.Tyr597Phe) c.677A>T (p.Tyr226Phe) c.1772A>T (p.Tyr591Phe) c.1487A>T (p.Tyr496Phe) c.269A>T (p.Tyr90Phe) n.717A>T | |
| 17 | g.63488682T>A | CA400557854 | ACE | c.2340T>A (p.Tyr780Ter) c.618T>A (p.Tyr206Ter) c.*410T>A (n.*410T>A) c.599T>A (n.599T>A) c.*69T>A (n.*69T>A) c.*260T>A (n.*260T>A) c.108T>A (p.Tyr36Ter) n.286T>A c.1791T>A (p.Tyr597Ter) c.678T>A (p.Tyr226Ter) c.1773T>A (p.Tyr591Ter) c.1488T>A (p.Tyr496Ter) c.270T>A (p.Tyr90Ter) n.718T>A | |
| 17 | g.63488682T>C | CA8700066 | ACE | c.2340T>C (p.Tyr780=) c.618T>C (p.Tyr206=) c.*410T>C (n.*410T>C) c.599T>C (n.599T>C) c.*69T>C (n.*69T>C) c.*260T>C (n.*260T>C) c.108T>C (p.Tyr36=) n.286T>C c.1791T>C (p.Tyr597=) c.678T>C (p.Tyr226=) c.1773T>C (p.Tyr591=) c.1488T>C (p.Tyr496=) c.270T>C (p.Tyr90=) n.718T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488682T>G | CA400557855 | ACE | c.2340T>G (p.Tyr780Ter) c.618T>G (p.Tyr206Ter) c.*410T>G (n.*410T>G) c.599T>G (n.599T>G) c.*69T>G (n.*69T>G) c.*260T>G (n.*260T>G) c.108T>G (p.Tyr36Ter) n.286T>G c.1791T>G (p.Tyr597Ter) c.678T>G (p.Tyr226Ter) c.1773T>G (p.Tyr591Ter) c.1488T>G (p.Tyr496Ter) c.270T>G (p.Tyr90Ter) n.718T>G | |
| 17 | g.63488682T= | CA2269945941 | ACE | c.2340T= (p.Tyr780=) c.618T= (p.Tyr206=) c.*410T= (n.*410T=) c.599T= (n.599T=) c.*69T= (n.*69T=) c.*260T= (n.*260T=) c.108T= (p.Tyr36=) n.286T= c.1791T= (p.Tyr597=) c.678T= (p.Tyr226=) c.1773T= (p.Tyr591=) c.1488T= (p.Tyr496=) c.270T= (p.Tyr90=) n.718T= | |
| 17 | g.63488683G>A | CA400557856 | ACE | c.2341G>A (p.Glu781Lys) c.619G>A (p.Glu207Lys) c.*411G>A (n.*411G>A) c.600G>A (n.600G>A) c.*70G>A (n.*70G>A) c.*261G>A (n.*261G>A) c.109G>A (p.Glu37Lys) n.287G>A c.1792G>A (p.Glu598Lys) c.679G>A (p.Glu227Lys) c.1774G>A (p.Glu592Lys) c.1489G>A (p.Glu497Lys) c.271G>A (p.Glu91Lys) n.719G>A | gnomAD v4 |
| 17 | g.63488683G>C | CA400557857 | ACE | c.2341G>C (p.Glu781Gln) c.619G>C (p.Glu207Gln) c.*411G>C (n.*411G>C) c.600G>C (n.600G>C) c.*70G>C (n.*70G>C) c.*261G>C (n.*261G>C) c.109G>C (p.Glu37Gln) n.287G>C c.1792G>C (p.Glu598Gln) c.679G>C (p.Glu227Gln) c.1774G>C (p.Glu592Gln) c.1489G>C (p.Glu497Gln) c.271G>C (p.Glu91Gln) n.719G>C | |
| 17 | g.63488683G>T | CA400557858 | ACE | c.2341G>T (p.Glu781Ter) c.619G>T (p.Glu207Ter) c.*411G>T (n.*411G>T) c.600G>T (n.600G>T) c.*70G>T (n.*70G>T) c.*261G>T (n.*261G>T) c.109G>T (p.Glu37Ter) n.287G>T c.1792G>T (p.Glu598Ter) c.679G>T (p.Glu227Ter) c.1774G>T (p.Glu592Ter) c.1489G>T (p.Glu497Ter) c.271G>T (p.Glu91Ter) n.719G>T | |
| 17 | g.63488683_63488687delinsGAAGA | CA2269945942 | ACE | c.2341_2345delinsGAAGA (p.Glu781=) c.619_623delinsGAAGA (p.Glu207=) c.*411_*415delinsGAAGA (n.*411_*415delinsGAAGA) c.600_604delinsGAAGA (n.600_604delinsGAAGA) c.*70_*74delinsGAAGA (n.*70_*74delinsGAAGA) c.*261_*265delinsGAAGA (n.*261_*265delinsGAAGA) c.109_113delinsGAAGA (p.Glu37=) n.287_291delinsGAAGA c.1792_1796delinsGAAGA (p.Glu598=) c.679_683delinsGAAGA (p.Glu227=) c.1774_1778delinsGAAGA (p.Glu592=) c.1489_1493delinsGAAGA (p.Glu497=) c.271_275delinsGAAGA (p.Glu91=) n.719_723delinsGAAGA |