| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63483871C>A | CA400550838 | ACE | c.1609C>A (p.Gln537Lys) c.*1008C>A (n.*1008C>A) c.1060C>A (p.Gln354Lys) c.1042C>A (p.Gln348Lys) c.757C>A (p.Gln253Lys) | |
| 17 | g.63483871C= | CA2269943365 | ACE | c.1609C= (p.Gln537=) c.*1008C= (n.*1008C=) c.1060C= (p.Gln354=) c.1042C= (p.Gln348=) c.757C= (p.Gln253=) | |
| 17 | g.63483871C>G | CA400550834 | ACE | c.1609C>G (p.Gln537Glu) c.*1008C>G (n.*1008C>G) c.1060C>G (p.Gln354Glu) c.1042C>G (p.Gln348Glu) c.757C>G (p.Gln253Glu) | |
| 17 | g.63483871C>T | CA400550835 | ACE | c.1609C>T (p.Gln537Ter) c.*1008C>T (n.*1008C>T) c.1060C>T (p.Gln354Ter) c.1042C>T (p.Gln348Ter) c.757C>T (p.Gln253Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63483879_63483884dup | CA8699636 | ACE | c.1617_1622dup (p.Phe540_His541insGlnPhe) c.*1016_*1021dup (n.*1016_*1021dup) c.1068_1073dup (p.Phe357_His358insGlnPhe) c.1050_1055dup (p.Phe351_His352insGlnPhe) c.765_770dup (p.Phe256_His257insGlnPhe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63483872A= | CA2269943366 | ACE | c.1610A= (p.Gln537=) c.*1009A= (n.*1009A=) c.1061A= (p.Gln354=) c.1043A= (p.Gln348=) c.758A= (p.Gln253=) | |
| 17 | g.63483872A>C | CA400550844 | ACE | c.1610A>C (p.Gln537Pro) c.*1009A>C (n.*1009A>C) c.1061A>C (p.Gln354Pro) c.1043A>C (p.Gln348Pro) c.758A>C (p.Gln253Pro) | |
| 17 | g.63483872A>G | CA8699637 | ACE | c.1610A>G (p.Gln537Arg) c.*1009A>G (n.*1009A>G) c.1061A>G (p.Gln354Arg) c.1043A>G (p.Gln348Arg) c.758A>G (p.Gln253Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63483872A>T | CA400550842 | ACE | c.1610A>T (p.Gln537Leu) c.*1009A>T (n.*1009A>T) c.1061A>T (p.Gln354Leu) c.1043A>T (p.Gln348Leu) c.758A>T (p.Gln253Leu) | |
| 17 | g.63483873G>A | CA501183210 | ACE | c.1611G>A (p.Gln537=) c.*1010G>A (n.*1010G>A) c.1062G>A (p.Gln354=) c.1044G>A (p.Gln348=) c.759G>A (p.Gln253=) | |
| 17 | g.63483873G>C | CA400550847 | ACE | c.1611G>C (p.Gln537His) c.*1010G>C (n.*1010G>C) c.1062G>C (p.Gln354His) c.1044G>C (p.Gln348His) c.759G>C (p.Gln253His) | |
| 17 | g.63483873G= | CA2269943367 | ACE | c.1611G= (p.Gln537=) c.*1010G= (n.*1010G=) c.1062G= (p.Gln354=) c.1044G= (p.Gln348=) c.759G= (p.Gln253=) | |
| 17 | g.63483873G>T | CA292877905 | ACE | c.1611G>T (p.Gln537His) c.*1010G>T (n.*1010G>T) c.1062G>T (p.Gln354His) c.1044G>T (p.Gln348His) c.759G>T (p.Gln253His) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63483874T>A | CA400550850 | ACE | c.1612T>A (p.Phe538Ile) c.*1011T>A (n.*1011T>A) c.1063T>A (p.Phe355Ile) c.1045T>A (p.Phe349Ile) c.760T>A (p.Phe254Ile) | |
| 17 | g.63483874T>C | CA400550851 | ACE | c.1612T>C (p.Phe538Leu) c.*1011T>C (n.*1011T>C) c.1063T>C (p.Phe355Leu) c.1045T>C (p.Phe349Leu) c.760T>C (p.Phe254Leu) | |
| 17 | g.63483874T>G | CA400550853 | ACE | c.1612T>G (p.Phe538Val) c.*1011T>G (n.*1011T>G) c.1063T>G (p.Phe355Val) c.1045T>G (p.Phe349Val) c.760T>G (p.Phe254Val) | |
| 17 | g.63483875T>A | CA400550856 | ACE | c.1613T>A (p.Phe538Tyr) c.*1012T>A (n.*1012T>A) c.1064T>A (p.Phe355Tyr) c.1046T>A (p.Phe349Tyr) c.761T>A (p.Phe254Tyr) | |
| 17 | g.63483875T>C | CA400550858 | ACE | c.1613T>C (p.Phe538Ser) c.*1012T>C (n.*1012T>C) c.1064T>C (p.Phe355Ser) c.1046T>C (p.Phe349Ser) c.761T>C (p.Phe254Ser) | |
| 17 | g.63483875T>G | CA400550859 | ACE | c.1613T>G (p.Phe538Cys) c.*1012T>G (n.*1012T>G) c.1064T>G (p.Phe355Cys) c.1046T>G (p.Phe349Cys) c.761T>G (p.Phe254Cys) | |
| 17 | g.63483876C>A | CA400550862 | ACE | c.1614C>A (p.Phe538Leu) c.*1013C>A (n.*1013C>A) c.1065C>A (p.Phe355Leu) c.1047C>A (p.Phe349Leu) c.762C>A (p.Phe254Leu) | |
| 17 | g.63483876C= | CA2269943368 | ACE | c.1614C= (p.Phe538=) c.*1013C= (n.*1013C=) c.1065C= (p.Phe355=) c.1047C= (p.Phe349=) c.762C= (p.Phe254=) | |
| 17 | g.63483876C>G | CA8699638 | ACE | c.1614C>G (p.Phe538Leu) c.*1013C>G (n.*1013C>G) c.1065C>G (p.Phe355Leu) c.1047C>G (p.Phe349Leu) c.762C>G (p.Phe254Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63483876C>T | CA501183214 | ACE | c.1614C>T (p.Phe538=) c.*1013C>T (n.*1013C>T) c.1065C>T (p.Phe355=) c.1047C>T (p.Phe349=) c.762C>T (p.Phe254=) | gnomAD v4 |
| 17 | g.63483877C>A | CA400550869 | ACE | c.1615C>A (p.Gln539Lys) c.*1014C>A (n.*1014C>A) c.1066C>A (p.Gln356Lys) c.1048C>A (p.Gln350Lys) c.763C>A (p.Gln255Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63483877C= | CA2269943369 | ACE | c.1615C= (p.Gln539=) c.*1014C= (n.*1014C=) c.1066C= (p.Gln356=) c.1048C= (p.Gln350=) c.763C= (p.Gln255=) | |
| 17 | g.63483877C>G | CA400550867 | ACE | c.1615C>G (p.Gln539Glu) c.*1014C>G (n.*1014C>G) c.1066C>G (p.Gln356Glu) c.1048C>G (p.Gln350Glu) c.763C>G (p.Gln255Glu) | |
| 17 | g.63483877C>T | CA400550865 | ACE | c.1615C>T (p.Gln539Ter) c.*1014C>T (n.*1014C>T) c.1066C>T (p.Gln356Ter) c.1048C>T (p.Gln350Ter) c.763C>T (p.Gln255Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63483878A>C | CA400550872 | ACE | c.1616A>C (p.Gln539Pro) c.*1015A>C (n.*1015A>C) c.1067A>C (p.Gln356Pro) c.1049A>C (p.Gln350Pro) c.764A>C (p.Gln255Pro) | |
| 17 | g.63483878A>G | CA400550873 | ACE | c.1616A>G (p.Gln539Arg) c.*1015A>G (n.*1015A>G) c.1067A>G (p.Gln356Arg) c.1049A>G (p.Gln350Arg) c.764A>G (p.Gln255Arg) | |
| 17 | g.63483878A>T | CA400550875 | ACE | c.1616A>T (p.Gln539Leu) c.*1015A>T (n.*1015A>T) c.1067A>T (p.Gln356Leu) c.1049A>T (p.Gln350Leu) c.764A>T (p.Gln255Leu) | |
| 17 | g.63483879G>A | CA501183219 | ACE | c.1617G>A (p.Gln539=) c.*1016G>A (n.*1016G>A) c.1068G>A (p.Gln356=) c.1050G>A (p.Gln350=) c.765G>A (p.Gln255=) | |
| 17 | g.63483879G>C | CA400550877 | ACE | c.1617G>C (p.Gln539His) c.*1016G>C (n.*1016G>C) c.1068G>C (p.Gln356His) c.1050G>C (p.Gln350His) c.765G>C (p.Gln255His) | |
| 17 | g.63483879G>T | CA400550879 | ACE | c.1617G>T (p.Gln539His) c.*1016G>T (n.*1016G>T) c.1068G>T (p.Gln356His) c.1050G>T (p.Gln350His) c.765G>T (p.Gln255His) | |
| 17 | g.63483880T>A | CA400550881 | ACE | c.1618T>A (p.Phe540Ile) c.*1017T>A (n.*1017T>A) c.1069T>A (p.Phe357Ile) c.1051T>A (p.Phe351Ile) c.766T>A (p.Phe256Ile) | |
| 17 | g.63483880T>C | CA400550883 | ACE | c.1618T>C (p.Phe540Leu) c.*1017T>C (n.*1017T>C) c.1069T>C (p.Phe357Leu) c.1051T>C (p.Phe351Leu) c.766T>C (p.Phe256Leu) | |
| 17 | g.63483880T>G | CA400550884 | ACE | c.1618T>G (p.Phe540Val) c.*1017T>G (n.*1017T>G) c.1069T>G (p.Phe357Val) c.1051T>G (p.Phe351Val) c.766T>G (p.Phe256Val) | |
| 17 | g.63483881T>A | CA400550887 | ACE | c.1619T>A (p.Phe540Tyr) c.*1018T>A (n.*1018T>A) c.1070T>A (p.Phe357Tyr) c.1052T>A (p.Phe351Tyr) c.767T>A (p.Phe256Tyr) | |
| 17 | g.63483881T>C | CA400550889 | ACE | c.1619T>C (p.Phe540Ser) c.*1018T>C (n.*1018T>C) c.1070T>C (p.Phe357Ser) c.1052T>C (p.Phe351Ser) c.767T>C (p.Phe256Ser) | |
| 17 | g.63483881T>G | CA400550891 | ACE | c.1619T>G (p.Phe540Cys) c.*1018T>G (n.*1018T>G) c.1070T>G (p.Phe357Cys) c.1052T>G (p.Phe351Cys) c.767T>G (p.Phe256Cys) | |
| 17 | g.63483882C>A | CA400550892 | ACE | c.1620C>A (p.Phe540Leu) c.*1019C>A (n.*1019C>A) c.1071C>A (p.Phe357Leu) c.1053C>A (p.Phe351Leu) c.768C>A (p.Phe256Leu) | |
| 17 | g.63483882C= | CA2269943370 | ACE | c.1620C= (p.Phe540=) c.*1019C= (n.*1019C=) c.1071C= (p.Phe357=) c.1053C= (p.Phe351=) c.768C= (p.Phe256=) | |
| 17 | g.63483882C>G | CA400550893 | ACE | c.1620C>G (p.Phe540Leu) c.*1019C>G (n.*1019C>G) c.1071C>G (p.Phe357Leu) c.1053C>G (p.Phe351Leu) c.768C>G (p.Phe256Leu) | gnomAD v4 |
| 17 | g.63483882C>T | CA501183227 | ACE | c.1620C>T (p.Phe540=) c.*1019C>T (n.*1019C>T) c.1071C>T (p.Phe357=) c.1053C>T (p.Phe351=) c.768C>T (p.Phe256=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63483883C>A | CA400550900 | ACE | c.1621C>A (p.His541Asn) c.*1020C>A (n.*1020C>A) c.1072C>A (p.His358Asn) c.1054C>A (p.His352Asn) c.769C>A (p.His257Asn) | |
| 17 | g.63483883C>G | CA400550898 | ACE | c.1621C>G (p.His541Asp) c.*1020C>G (n.*1020C>G) c.1072C>G (p.His358Asp) c.1054C>G (p.His352Asp) c.769C>G (p.His257Asp) | |
| 17 | g.63483883C>T | CA400550897 | ACE | c.1621C>T (p.His541Tyr) c.*1020C>T (n.*1020C>T) c.1072C>T (p.His358Tyr) c.1054C>T (p.His352Tyr) c.769C>T (p.His257Tyr) | gnomAD v4 |
| 17 | g.63483884A= | CA2269943371 | ACE | c.1622A= (p.His541=) c.*1021A= (n.*1021A=) c.1073A= (p.His358=) c.1055A= (p.His352=) c.770A= (p.His257=) | |
| 17 | g.63483884A>C | CA400550902 | ACE | c.1622A>C (p.His541Pro) c.*1021A>C (n.*1021A>C) c.1073A>C (p.His358Pro) c.1055A>C (p.His352Pro) c.770A>C (p.His257Pro) | |
| 17 | g.63483884A>G | CA8699639 | ACE | c.1622A>G (p.His541Arg) c.*1021A>G (n.*1021A>G) c.1073A>G (p.His358Arg) c.1055A>G (p.His352Arg) c.770A>G (p.His257Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63483884A>T | CA400550903 | ACE | c.1622A>T (p.His541Leu) c.*1021A>T (n.*1021A>T) c.1073A>T (p.His358Leu) c.1055A>T (p.His352Leu) c.770A>T (p.His257Leu) |