Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63488523_63488529delinsGCTGCCT | CA2269945833 | ACE | c.2306-125_2306-119delinsGCTGCCT (n.2306-125_2306-119delinsGCTGCCT) c.584-125_584-119delinsGCTGCCT (n.584-125_584-119delinsGCTGCCT) c.*376-125_*376-119delinsGCTGCCT (n.*376-125_*376-119delinsGCTGCCT) c.487-47_487-41delinsGCTGCCT (n.487-47_487-41delinsGCTGCCT) c.584-47_584-41delinsGCTGCCT (n.584-47_584-41delinsGCTGCCT) c.*226-125_*226-119delinsGCTGCCT (n.*226-125_*226-119delinsGCTGCCT) c.74-125_74-119delinsGCTGCCT (n.74-125_74-119delinsGCTGCCT) n.252-125_252-119delinsGCTGCCT c.1757-125_1757-119delinsGCTGCCT (n.1757-125_1757-119delinsGCTGCCT) c.644-125_644-119delinsGCTGCCT (n.644-125_644-119delinsGCTGCCT) c.1739-125_1739-119delinsGCTGCCT (n.1739-125_1739-119delinsGCTGCCT) c.1454-125_1454-119delinsGCTGCCT (n.1454-125_1454-119delinsGCTGCCT) c.236-125_236-119delinsGCTGCCT (n.236-125_236-119delinsGCTGCCT) n.606-47_606-41delinsGCTGCCT | |
17 | g.63488524_63488529del | CA8700015 | ACE | c.2306-124_2306-119del (n.2306-124_2306-119del) c.584-124_584-119del (n.584-124_584-119del) c.*376-124_*376-119del (n.*376-124_*376-119del) c.487-46_487-41del (n.487-46_487-41del) c.584-46_584-41del (n.584-46_584-41del) c.*226-124_*226-119del (n.*226-124_*226-119del) c.74-124_74-119del (n.74-124_74-119del) n.252-124_252-119del c.1757-124_1757-119del (n.1757-124_1757-119del) c.644-124_644-119del (n.644-124_644-119del) c.1739-124_1739-119del (n.1739-124_1739-119del) c.1454-124_1454-119del (n.1454-124_1454-119del) c.236-124_236-119del (n.236-124_236-119del) n.606-46_606-41del | dbSNP ExAC |
17 | g.63488527_63488529delinsCCT | CA2269945838 | ACE | c.2306-121_2306-119delinsCCT (n.2306-121_2306-119delinsCCT) c.584-121_584-119delinsCCT (n.584-121_584-119delinsCCT) c.*376-121_*376-119delinsCCT (n.*376-121_*376-119delinsCCT) c.487-43_487-41delinsCCT (n.487-43_487-41delinsCCT) c.584-43_584-41delinsCCT (n.584-43_584-41delinsCCT) c.*226-121_*226-119delinsCCT (n.*226-121_*226-119delinsCCT) c.74-121_74-119delinsCCT (n.74-121_74-119delinsCCT) n.252-121_252-119delinsCCT c.1757-121_1757-119delinsCCT (n.1757-121_1757-119delinsCCT) c.644-121_644-119delinsCCT (n.644-121_644-119delinsCCT) c.1739-121_1739-119delinsCCT (n.1739-121_1739-119delinsCCT) c.1454-121_1454-119delinsCCT (n.1454-121_1454-119delinsCCT) c.236-121_236-119delinsCCT (n.236-121_236-119delinsCCT) n.606-43_606-41delinsCCT | |
17 | g.63488528_63488529delinsGTG | CA919875835 | ACE | c.2306-120_2306-119delinsGTG (n.2306-120_2306-119delinsGTG) c.584-120_584-119delinsGTG (n.584-120_584-119delinsGTG) c.*376-120_*376-119delinsGTG (n.*376-120_*376-119delinsGTG) c.487-42_487-41delinsGTG (n.487-42_487-41delinsGTG) c.584-42_584-41delinsGTG (n.584-42_584-41delinsGTG) c.*226-120_*226-119delinsGTG (n.*226-120_*226-119delinsGTG) c.74-120_74-119delinsGTG (n.74-120_74-119delinsGTG) n.252-120_252-119delinsGTG c.1757-120_1757-119delinsGTG (n.1757-120_1757-119delinsGTG) c.644-120_644-119delinsGTG (n.644-120_644-119delinsGTG) c.1739-120_1739-119delinsGTG (n.1739-120_1739-119delinsGTG) c.1454-120_1454-119delinsGTG (n.1454-120_1454-119delinsGTG) c.236-120_236-119delinsGTG (n.236-120_236-119delinsGTG) n.606-42_606-41delinsGTG | dbSNP |
17 | g.63488529T>A | CA2639263614 | ACE | c.2306-119T>A (n.2306-119T>A) c.584-119T>A (n.584-119T>A) c.*376-119T>A (n.*376-119T>A) c.487-41T>A (n.487-41T>A) c.584-41T>A (n.584-41T>A) c.*226-119T>A (n.*226-119T>A) c.74-119T>A (n.74-119T>A) n.252-119T>A c.1757-119T>A (n.1757-119T>A) c.644-119T>A (n.644-119T>A) c.1739-119T>A (n.1739-119T>A) c.1454-119T>A (n.1454-119T>A) c.236-119T>A (n.236-119T>A) n.606-41T>A | gnomAD v4 |
17 | g.63488529T>G | CA627148116 | ACE | c.2306-119T>G (n.2306-119T>G) c.584-119T>G (n.584-119T>G) c.*376-119T>G (n.*376-119T>G) c.487-41T>G (n.487-41T>G) c.584-41T>G (n.584-41T>G) c.*226-119T>G (n.*226-119T>G) c.74-119T>G (n.74-119T>G) n.252-119T>G c.1757-119T>G (n.1757-119T>G) c.644-119T>G (n.644-119T>G) c.1739-119T>G (n.1739-119T>G) c.1454-119T>G (n.1454-119T>G) c.236-119T>G (n.236-119T>G) n.606-41T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488529T= | CA2269945840 | ACE | c.2306-119T= (n.2306-119T=) c.584-119T= (n.584-119T=) c.*376-119T= (n.*376-119T=) c.487-41T= (n.487-41T=) c.584-41T= (n.584-41T=) c.*226-119T= (n.*226-119T=) c.74-119T= (n.74-119T=) n.252-119T= c.1757-119T= (n.1757-119T=) c.644-119T= (n.644-119T=) c.1739-119T= (n.1739-119T=) c.1454-119T= (n.1454-119T=) c.236-119T= (n.236-119T=) n.606-41T= | |
17 | g.63488529_63488530insG | CA8700019 | ACE | c.2306-119_2306-118insG (n.2306-119_2306-118insG) c.584-119_584-118insG (n.584-119_584-118insG) c.*376-119_*376-118insG (n.*376-119_*376-118insG) c.487-41_487-40insG (n.487-41_487-40insG) c.584-41_584-40insG (n.584-41_584-40insG) c.*226-119_*226-118insG (n.*226-119_*226-118insG) c.74-119_74-118insG (n.74-119_74-118insG) n.252-119_252-118insG c.1757-119_1757-118insG (n.1757-119_1757-118insG) c.644-119_644-118insG (n.644-119_644-118insG) c.1739-119_1739-118insG (n.1739-119_1739-118insG) c.1454-119_1454-118insG (n.1454-119_1454-118insG) c.236-119_236-118insG (n.236-119_236-118insG) n.606-41_606-40insG | dbSNP ExAC gnomAD v4 |
17 | g.63488529_63488530insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG | CA2528349642 | ACE | c.2306-119_2306-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.2306-119_2306-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.584-119_584-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.584-119_584-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.*376-119_*376-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.*376-119_*376-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.487-41_487-40insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.487-41_487-40insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.584-41_584-40insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.584-41_584-40insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.*226-119_*226-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.*226-119_*226-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.74-119_74-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.74-119_74-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG) n.252-119_252-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG c.1757-119_1757-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.1757-119_1757-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.644-119_644-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.644-119_644-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.1739-119_1739-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.1739-119_1739-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.1454-119_1454-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.1454-119_1454-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.236-119_236-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.236-119_236-118insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG) n.606-41_606-40insGCCTTGGTGCCTCCCAAAGTGCTGGGATTACAGGCGTG | |
17 | g.63488529_63488530insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG | CA985411336 | ACE | c.2306-119_2306-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.2306-119_2306-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.584-119_584-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.584-119_584-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.*376-119_*376-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.*376-119_*376-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.487-41_487-40insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.487-41_487-40insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.584-41_584-40insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.584-41_584-40insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.*226-119_*226-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.*226-119_*226-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.74-119_74-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.74-119_74-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) n.252-119_252-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG c.1757-119_1757-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.1757-119_1757-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.644-119_644-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.644-119_644-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.1739-119_1739-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.1739-119_1739-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.1454-119_1454-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.1454-119_1454-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.236-119_236-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.236-119_236-118insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) n.606-41_606-40insGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG | gnomAD v3 gnomAD v4 |
17 | g.63488530A>C | CA2639263615 | ACE | c.2306-118A>C (n.2306-118A>C) c.584-118A>C (n.584-118A>C) c.*376-118A>C (n.*376-118A>C) c.487-40A>C (n.487-40A>C) c.584-40A>C (n.584-40A>C) c.*226-118A>C (n.*226-118A>C) c.74-118A>C (n.74-118A>C) n.252-118A>C c.1757-118A>C (n.1757-118A>C) c.644-118A>C (n.644-118A>C) c.1739-118A>C (n.1739-118A>C) c.1454-118A>C (n.1454-118A>C) c.236-118A>C (n.236-118A>C) n.606-40A>C | gnomAD v4 |
17 | g.63488530A>G | CA2639263616 | ACE | c.2306-118A>G (n.2306-118A>G) c.584-118A>G (n.584-118A>G) c.*376-118A>G (n.*376-118A>G) c.487-40A>G (n.487-40A>G) c.584-40A>G (n.584-40A>G) c.*226-118A>G (n.*226-118A>G) c.74-118A>G (n.74-118A>G) n.252-118A>G c.1757-118A>G (n.1757-118A>G) c.644-118A>G (n.644-118A>G) c.1739-118A>G (n.1739-118A>G) c.1454-118A>G (n.1454-118A>G) c.236-118A>G (n.236-118A>G) n.606-40A>G | gnomAD v4 |
17 | g.63488530_63488531delinsAT | CA2269945841 | ACE | c.2306-118_2306-117delinsAT (n.2306-118_2306-117delinsAT) c.584-118_584-117delinsAT (n.584-118_584-117delinsAT) c.*376-118_*376-117delinsAT (n.*376-118_*376-117delinsAT) c.487-40_487-39delinsAT (n.487-40_487-39delinsAT) c.584-40_584-39delinsAT (n.584-40_584-39delinsAT) c.*226-118_*226-117delinsAT (n.*226-118_*226-117delinsAT) c.74-118_74-117delinsAT (n.74-118_74-117delinsAT) n.252-118_252-117delinsAT c.1757-118_1757-117delinsAT (n.1757-118_1757-117delinsAT) c.644-118_644-117delinsAT (n.644-118_644-117delinsAT) c.1739-118_1739-117delinsAT (n.1739-118_1739-117delinsAT) c.1454-118_1454-117delinsAT (n.1454-118_1454-117delinsAT) c.236-118_236-117delinsAT (n.236-118_236-117delinsAT) n.606-40_606-39delinsAT | |
17 | g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | CA16044415 | ACE | c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT (n.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT) c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT (n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT) c.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT (n.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT) c.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT (n.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT) c.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT (n.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT) c.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT (n.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT) c.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT (n.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT) n.252-105_252-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT c.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT (n.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT) c.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT (n.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT) c.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT (n.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT) c.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT (n.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT) c.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT (n.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT) n.606-27_606-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | ClinVar dbSNP |
17 | g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT | CA627148117 | ACE | c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) n.252-105_252-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT c.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) n.606-27_606-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT | gnomAD v2 |
17 | g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT | CA627148118 | ACE | c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) n.252-105_252-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT c.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) n.606-27_606-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT | gnomAD v2 |
17 | g.63488530_63488531insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG | CA1139590311 | ACE | c.2306-118_2306-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.2306-118_2306-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.584-118_584-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.584-118_584-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.*376-118_*376-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.*376-118_*376-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.487-40_487-39insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.487-40_487-39insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.584-40_584-39insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.584-40_584-39insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.*226-118_*226-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.*226-118_*226-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.74-118_74-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.74-118_74-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) n.252-118_252-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG c.1757-118_1757-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.1757-118_1757-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.644-118_644-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.644-118_644-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.1739-118_1739-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.1739-118_1739-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.1454-118_1454-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.1454-118_1454-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) c.236-118_236-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG (n.236-118_236-117insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG) n.606-40_606-39insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG | |
17 | g.63488531del | CA919875836 | ACE | c.2306-117del (n.2306-117del) c.584-117del (n.584-117del) c.*376-117del (n.*376-117del) c.487-39del (n.487-39del) c.584-39del (n.584-39del) c.*226-117del (n.*226-117del) c.74-117del (n.74-117del) n.252-117del c.1757-117del (n.1757-117del) c.644-117del (n.644-117del) c.1739-117del (n.1739-117del) c.1454-117del (n.1454-117del) c.236-117del (n.236-117del) n.606-39del | dbSNP |
17 | g.63488531T>C | CA985411340 | ACE | c.2306-117T>C (n.2306-117T>C) c.584-117T>C (n.584-117T>C) c.*376-117T>C (n.*376-117T>C) c.487-39T>C (n.487-39T>C) c.584-39T>C (n.584-39T>C) c.*226-117T>C (n.*226-117T>C) c.74-117T>C (n.74-117T>C) n.252-117T>C c.1757-117T>C (n.1757-117T>C) c.644-117T>C (n.644-117T>C) c.1739-117T>C (n.1739-117T>C) c.1454-117T>C (n.1454-117T>C) c.236-117T>C (n.236-117T>C) n.606-39T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488531T= | CA2269945842 | ACE | c.2306-117T= (n.2306-117T=) c.584-117T= (n.584-117T=) c.*376-117T= (n.*376-117T=) c.487-39T= (n.487-39T=) c.584-39T= (n.584-39T=) c.*226-117T= (n.*226-117T=) c.74-117T= (n.74-117T=) n.252-117T= c.1757-117T= (n.1757-117T=) c.644-117T= (n.644-117T=) c.1739-117T= (n.1739-117T=) c.1454-117T= (n.1454-117T=) c.236-117T= (n.236-117T=) n.606-39T= | |
17 | g.63488531_63488532insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT | CA1139632718 | ACE | c.2306-117_2306-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT (n.2306-117_2306-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT) c.584-117_584-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT (n.584-117_584-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT) c.*376-117_*376-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT (n.*376-117_*376-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT) c.487-39_487-38insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT (n.487-39_487-38insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT) c.584-39_584-38insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT (n.584-39_584-38insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT) c.*226-117_*226-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT (n.*226-117_*226-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT) c.74-117_74-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT (n.74-117_74-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT) n.252-117_252-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT c.1757-117_1757-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT (n.1757-117_1757-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT) c.644-117_644-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT (n.644-117_644-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT) c.1739-117_1739-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT (n.1739-117_1739-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT) c.1454-117_1454-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT (n.1454-117_1454-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT) c.236-117_236-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT (n.236-117_236-116insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT) n.606-39_606-38insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGT | |
17 | g.63488532A>C | CA2639263617 | ACE | c.2306-116A>C (n.2306-116A>C) c.584-116A>C (n.584-116A>C) c.*376-116A>C (n.*376-116A>C) c.487-38A>C (n.487-38A>C) c.584-38A>C (n.584-38A>C) c.*226-116A>C (n.*226-116A>C) c.74-116A>C (n.74-116A>C) n.252-116A>C c.1757-116A>C (n.1757-116A>C) c.644-116A>C (n.644-116A>C) c.1739-116A>C (n.1739-116A>C) c.1454-116A>C (n.1454-116A>C) c.236-116A>C (n.236-116A>C) n.606-38A>C | gnomAD v4 |
17 | g.63488533C>A | CA8700020 | ACE | c.2306-115C>A (n.2306-115C>A) c.584-115C>A (n.584-115C>A) c.*376-115C>A (n.*376-115C>A) c.487-37C>A (n.487-37C>A) c.584-37C>A (n.584-37C>A) c.*226-115C>A (n.*226-115C>A) c.74-115C>A (n.74-115C>A) n.252-115C>A c.1757-115C>A (n.1757-115C>A) c.644-115C>A (n.644-115C>A) c.1739-115C>A (n.1739-115C>A) c.1454-115C>A (n.1454-115C>A) c.236-115C>A (n.236-115C>A) n.606-37C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488533C= | CA2269945843 | ACE | c.2306-115C= (n.2306-115C=) c.584-115C= (n.584-115C=) c.*376-115C= (n.*376-115C=) c.487-37C= (n.487-37C=) c.584-37C= (n.584-37C=) c.*226-115C= (n.*226-115C=) c.74-115C= (n.74-115C=) n.252-115C= c.1757-115C= (n.1757-115C=) c.644-115C= (n.644-115C=) c.1739-115C= (n.1739-115C=) c.1454-115C= (n.1454-115C=) c.236-115C= (n.236-115C=) n.606-37C= | |
17 | g.63488533C>G | CA2639263618 | ACE | c.2306-115C>G (n.2306-115C>G) c.584-115C>G (n.584-115C>G) c.*376-115C>G (n.*376-115C>G) c.487-37C>G (n.487-37C>G) c.584-37C>G (n.584-37C>G) c.*226-115C>G (n.*226-115C>G) c.74-115C>G (n.74-115C>G) n.252-115C>G c.1757-115C>G (n.1757-115C>G) c.644-115C>G (n.644-115C>G) c.1739-115C>G (n.1739-115C>G) c.1454-115C>G (n.1454-115C>G) c.236-115C>G (n.236-115C>G) n.606-37C>G | gnomAD v4 |
17 | g.63488533C>T | CA627148119 | ACE | c.2306-115C>T (n.2306-115C>T) c.584-115C>T (n.584-115C>T) c.*376-115C>T (n.*376-115C>T) c.487-37C>T (n.487-37C>T) c.584-37C>T (n.584-37C>T) c.*226-115C>T (n.*226-115C>T) c.74-115C>T (n.74-115C>T) n.252-115C>T c.1757-115C>T (n.1757-115C>T) c.644-115C>T (n.644-115C>T) c.1739-115C>T (n.1739-115C>T) c.1454-115C>T (n.1454-115C>T) c.236-115C>T (n.236-115C>T) n.606-37C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488534A= | CA2269945844 | ACE | c.2306-114A= (n.2306-114A=) c.584-114A= (n.584-114A=) c.*376-114A= (n.*376-114A=) c.487-36A= (n.487-36A=) c.584-36A= (n.584-36A=) c.*226-114A= (n.*226-114A=) c.74-114A= (n.74-114A=) n.252-114A= c.1757-114A= (n.1757-114A=) c.644-114A= (n.644-114A=) c.1739-114A= (n.1739-114A=) c.1454-114A= (n.1454-114A=) c.236-114A= (n.236-114A=) n.606-36A= | |
17 | g.63488534A>C | CA2639263619 | ACE | c.2306-114A>C (n.2306-114A>C) c.584-114A>C (n.584-114A>C) c.*376-114A>C (n.*376-114A>C) c.487-36A>C (n.487-36A>C) c.584-36A>C (n.584-36A>C) c.*226-114A>C (n.*226-114A>C) c.74-114A>C (n.74-114A>C) n.252-114A>C c.1757-114A>C (n.1757-114A>C) c.644-114A>C (n.644-114A>C) c.1739-114A>C (n.1739-114A>C) c.1454-114A>C (n.1454-114A>C) c.236-114A>C (n.236-114A>C) n.606-36A>C | gnomAD v4 |
17 | g.63488534A>T | CA627148120 | ACE | c.2306-114A>T (n.2306-114A>T) c.584-114A>T (n.584-114A>T) c.*376-114A>T (n.*376-114A>T) c.487-36A>T (n.487-36A>T) c.584-36A>T (n.584-36A>T) c.*226-114A>T (n.*226-114A>T) c.74-114A>T (n.74-114A>T) n.252-114A>T c.1757-114A>T (n.1757-114A>T) c.644-114A>T (n.644-114A>T) c.1739-114A>T (n.1739-114A>T) c.1454-114A>T (n.1454-114A>T) c.236-114A>T (n.236-114A>T) n.606-36A>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488535G>A | CA8700021 | ACE | c.2306-113G>A (n.2306-113G>A) c.584-113G>A (n.584-113G>A) c.*376-113G>A (n.*376-113G>A) c.487-35G>A (n.487-35G>A) c.584-35G>A (n.584-35G>A) c.*226-113G>A (n.*226-113G>A) c.74-113G>A (n.74-113G>A) n.252-113G>A c.1757-113G>A (n.1757-113G>A) c.644-113G>A (n.644-113G>A) c.1739-113G>A (n.1739-113G>A) c.1454-113G>A (n.1454-113G>A) c.236-113G>A (n.236-113G>A) n.606-35G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488535G>C | CA2639263620 | ACE | c.2306-113G>C (n.2306-113G>C) c.584-113G>C (n.584-113G>C) c.*376-113G>C (n.*376-113G>C) c.487-35G>C (n.487-35G>C) c.584-35G>C (n.584-35G>C) c.*226-113G>C (n.*226-113G>C) c.74-113G>C (n.74-113G>C) n.252-113G>C c.1757-113G>C (n.1757-113G>C) c.644-113G>C (n.644-113G>C) c.1739-113G>C (n.1739-113G>C) c.1454-113G>C (n.1454-113G>C) c.236-113G>C (n.236-113G>C) n.606-35G>C | gnomAD v4 |
17 | g.63488535G= | CA2269945845 | ACE | c.2306-113G= (n.2306-113G=) c.584-113G= (n.584-113G=) c.*376-113G= (n.*376-113G=) c.487-35G= (n.487-35G=) c.584-35G= (n.584-35G=) c.*226-113G= (n.*226-113G=) c.74-113G= (n.74-113G=) n.252-113G= c.1757-113G= (n.1757-113G=) c.644-113G= (n.644-113G=) c.1739-113G= (n.1739-113G=) c.1454-113G= (n.1454-113G=) c.236-113G= (n.236-113G=) n.606-35G= | |
17 | g.63488535G>T | CA2639263621 | ACE | c.2306-113G>T (n.2306-113G>T) c.584-113G>T (n.584-113G>T) c.*376-113G>T (n.*376-113G>T) c.487-35G>T (n.487-35G>T) c.584-35G>T (n.584-35G>T) c.*226-113G>T (n.*226-113G>T) c.74-113G>T (n.74-113G>T) n.252-113G>T c.1757-113G>T (n.1757-113G>T) c.644-113G>T (n.644-113G>T) c.1739-113G>T (n.1739-113G>T) c.1454-113G>T (n.1454-113G>T) c.236-113G>T (n.236-113G>T) n.606-35G>T | gnomAD v4 |
17 | g.63488536T>A | CA8700022 | ACE | c.2306-112T>A (n.2306-112T>A) c.584-112T>A (n.584-112T>A) c.*376-112T>A (n.*376-112T>A) c.487-34T>A (n.487-34T>A) c.584-34T>A (n.584-34T>A) c.*226-112T>A (n.*226-112T>A) c.74-112T>A (n.74-112T>A) n.252-112T>A c.1757-112T>A (n.1757-112T>A) c.644-112T>A (n.644-112T>A) c.1739-112T>A (n.1739-112T>A) c.1454-112T>A (n.1454-112T>A) c.236-112T>A (n.236-112T>A) n.606-34T>A | dbSNP ExAC gnomAD v4 |
17 | g.63488536T>C | CA2639263622 | ACE | c.2306-112T>C (n.2306-112T>C) c.584-112T>C (n.584-112T>C) c.*376-112T>C (n.*376-112T>C) c.487-34T>C (n.487-34T>C) c.584-34T>C (n.584-34T>C) c.*226-112T>C (n.*226-112T>C) c.74-112T>C (n.74-112T>C) n.252-112T>C c.1757-112T>C (n.1757-112T>C) c.644-112T>C (n.644-112T>C) c.1739-112T>C (n.1739-112T>C) c.1454-112T>C (n.1454-112T>C) c.236-112T>C (n.236-112T>C) n.606-34T>C | gnomAD v4 |
17 | g.63488536T>G | CA2639263623 | ACE | c.2306-112T>G (n.2306-112T>G) c.584-112T>G (n.584-112T>G) c.*376-112T>G (n.*376-112T>G) c.487-34T>G (n.487-34T>G) c.584-34T>G (n.584-34T>G) c.*226-112T>G (n.*226-112T>G) c.74-112T>G (n.74-112T>G) n.252-112T>G c.1757-112T>G (n.1757-112T>G) c.644-112T>G (n.644-112T>G) c.1739-112T>G (n.1739-112T>G) c.1454-112T>G (n.1454-112T>G) c.236-112T>G (n.236-112T>G) n.606-34T>G | gnomAD v4 |
17 | g.63488536T= | CA2269945846 | ACE | c.2306-112T= (n.2306-112T=) c.584-112T= (n.584-112T=) c.*376-112T= (n.*376-112T=) c.487-34T= (n.487-34T=) c.584-34T= (n.584-34T=) c.*226-112T= (n.*226-112T=) c.74-112T= (n.74-112T=) n.252-112T= c.1757-112T= (n.1757-112T=) c.644-112T= (n.644-112T=) c.1739-112T= (n.1739-112T=) c.1454-112T= (n.1454-112T=) c.236-112T= (n.236-112T=) n.606-34T= | |
17 | g.63488537C>A | CA627148121 | ACE | c.2306-111C>A (n.2306-111C>A) c.584-111C>A (n.584-111C>A) c.*376-111C>A (n.*376-111C>A) c.487-33C>A (n.487-33C>A) c.584-33C>A (n.584-33C>A) c.*226-111C>A (n.*226-111C>A) c.74-111C>A (n.74-111C>A) n.252-111C>A c.1757-111C>A (n.1757-111C>A) c.644-111C>A (n.644-111C>A) c.1739-111C>A (n.1739-111C>A) c.1454-111C>A (n.1454-111C>A) c.236-111C>A (n.236-111C>A) n.606-33C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488537C= | CA2269945847 | ACE | c.2306-111C= (n.2306-111C=) c.584-111C= (n.584-111C=) c.*376-111C= (n.*376-111C=) c.487-33C= (n.487-33C=) c.584-33C= (n.584-33C=) c.*226-111C= (n.*226-111C=) c.74-111C= (n.74-111C=) n.252-111C= c.1757-111C= (n.1757-111C=) c.644-111C= (n.644-111C=) c.1739-111C= (n.1739-111C=) c.1454-111C= (n.1454-111C=) c.236-111C= (n.236-111C=) n.606-33C= | |
17 | g.63488537C>G | CA2639263624 | ACE | c.2306-111C>G (n.2306-111C>G) c.584-111C>G (n.584-111C>G) c.*376-111C>G (n.*376-111C>G) c.487-33C>G (n.487-33C>G) c.584-33C>G (n.584-33C>G) c.*226-111C>G (n.*226-111C>G) c.74-111C>G (n.74-111C>G) n.252-111C>G c.1757-111C>G (n.1757-111C>G) c.644-111C>G (n.644-111C>G) c.1739-111C>G (n.1739-111C>G) c.1454-111C>G (n.1454-111C>G) c.236-111C>G (n.236-111C>G) n.606-33C>G | gnomAD v4 |
17 | g.63488537C>T | CA2639263625 | ACE | c.2306-111C>T (n.2306-111C>T) c.584-111C>T (n.584-111C>T) c.*376-111C>T (n.*376-111C>T) c.487-33C>T (n.487-33C>T) c.584-33C>T (n.584-33C>T) c.*226-111C>T (n.*226-111C>T) c.74-111C>T (n.74-111C>T) n.252-111C>T c.1757-111C>T (n.1757-111C>T) c.644-111C>T (n.644-111C>T) c.1739-111C>T (n.1739-111C>T) c.1454-111C>T (n.1454-111C>T) c.236-111C>T (n.236-111C>T) n.606-33C>T | gnomAD v4 |
17 | g.63488538A>C | CA985411345 | ACE | c.2306-110A>C (n.2306-110A>C) c.584-110A>C (n.584-110A>C) c.*376-110A>C (n.*376-110A>C) c.487-32A>C (n.487-32A>C) c.584-32A>C (n.584-32A>C) c.*226-110A>C (n.*226-110A>C) c.74-110A>C (n.74-110A>C) n.252-110A>C c.1757-110A>C (n.1757-110A>C) c.644-110A>C (n.644-110A>C) c.1739-110A>C (n.1739-110A>C) c.1454-110A>C (n.1454-110A>C) c.236-110A>C (n.236-110A>C) n.606-32A>C | gnomAD v3 gnomAD v4 |
17 | g.63488539C>A | CA2639263627 | ACE | c.2306-109C>A (n.2306-109C>A) c.584-109C>A (n.584-109C>A) c.*376-109C>A (n.*376-109C>A) c.487-31C>A (n.487-31C>A) c.584-31C>A (n.584-31C>A) c.*226-109C>A (n.*226-109C>A) c.74-109C>A (n.74-109C>A) n.252-109C>A c.1757-109C>A (n.1757-109C>A) c.644-109C>A (n.644-109C>A) c.1739-109C>A (n.1739-109C>A) c.1454-109C>A (n.1454-109C>A) c.236-109C>A (n.236-109C>A) n.606-31C>A | gnomAD v4 |
17 | g.63488539C= | CA2269945848 | ACE | c.2306-109C= (n.2306-109C=) c.584-109C= (n.584-109C=) c.*376-109C= (n.*376-109C=) c.487-31C= (n.487-31C=) c.584-31C= (n.584-31C=) c.*226-109C= (n.*226-109C=) c.74-109C= (n.74-109C=) n.252-109C= c.1757-109C= (n.1757-109C=) c.644-109C= (n.644-109C=) c.1739-109C= (n.1739-109C=) c.1454-109C= (n.1454-109C=) c.236-109C= (n.236-109C=) n.606-31C= | |
17 | g.63488539C>G | CA2639263626 | ACE | c.2306-109C>G (n.2306-109C>G) c.584-109C>G (n.584-109C>G) c.*376-109C>G (n.*376-109C>G) c.487-31C>G (n.487-31C>G) c.584-31C>G (n.584-31C>G) c.*226-109C>G (n.*226-109C>G) c.74-109C>G (n.74-109C>G) n.252-109C>G c.1757-109C>G (n.1757-109C>G) c.644-109C>G (n.644-109C>G) c.1739-109C>G (n.1739-109C>G) c.1454-109C>G (n.1454-109C>G) c.236-109C>G (n.236-109C>G) n.606-31C>G | gnomAD v4 |
17 | g.63488539_63488540insATTTTTTTTTTT | CA2639263629 | ACE | c.2306-109_2306-108insATTTTTTTTTTT (n.2306-109_2306-108insATTTTTTTTTTT) c.584-109_584-108insATTTTTTTTTTT (n.584-109_584-108insATTTTTTTTTTT) c.*376-109_*376-108insATTTTTTTTTTT (n.*376-109_*376-108insATTTTTTTTTTT) c.487-31_487-30insATTTTTTTTTTT (n.487-31_487-30insATTTTTTTTTTT) c.584-31_584-30insATTTTTTTTTTT (n.584-31_584-30insATTTTTTTTTTT) c.*226-109_*226-108insATTTTTTTTTTT (n.*226-109_*226-108insATTTTTTTTTTT) c.74-109_74-108insATTTTTTTTTTT (n.74-109_74-108insATTTTTTTTTTT) n.252-109_252-108insATTTTTTTTTTT c.1757-109_1757-108insATTTTTTTTTTT (n.1757-109_1757-108insATTTTTTTTTTT) c.644-109_644-108insATTTTTTTTTTT (n.644-109_644-108insATTTTTTTTTTT) c.1739-109_1739-108insATTTTTTTTTTT (n.1739-109_1739-108insATTTTTTTTTTT) c.1454-109_1454-108insATTTTTTTTTTT (n.1454-109_1454-108insATTTTTTTTTTT) c.236-109_236-108insATTTTTTTTTTT (n.236-109_236-108insATTTTTTTTTTT) n.606-31_606-30insATTTTTTTTTTT | gnomAD v4 |
17 | g.63488540T>G | CA2639263630 | ACE | c.2306-108T>G (n.2306-108T>G) c.584-108T>G (n.584-108T>G) c.*376-108T>G (n.*376-108T>G) c.487-30T>G (n.487-30T>G) c.584-30T>G (n.584-30T>G) c.*226-108T>G (n.*226-108T>G) c.74-108T>G (n.74-108T>G) n.252-108T>G c.1757-108T>G (n.1757-108T>G) c.644-108T>G (n.644-108T>G) c.1739-108T>G (n.1739-108T>G) c.1454-108T>G (n.1454-108T>G) c.236-108T>G (n.236-108T>G) n.606-30T>G | gnomAD v4 |
17 | g.63488543_63488544insTTTTT | CA985411358 | ACE | c.2306-105_2306-104insTTTTT (n.2306-105_2306-104insTTTTT) c.584-105_584-104insTTTTT (n.584-105_584-104insTTTTT) c.*376-105_*376-104insTTTTT (n.*376-105_*376-104insTTTTT) c.487-27_487-26insTTTTT (n.487-27_487-26insTTTTT) c.584-27_584-26insTTTTT (n.584-27_584-26insTTTTT) c.*226-105_*226-104insTTTTT (n.*226-105_*226-104insTTTTT) c.74-105_74-104insTTTTT (n.74-105_74-104insTTTTT) n.252-105_252-104insTTTTT c.1757-105_1757-104insTTTTT (n.1757-105_1757-104insTTTTT) c.644-105_644-104insTTTTT (n.644-105_644-104insTTTTT) c.1739-105_1739-104insTTTTT (n.1739-105_1739-104insTTTTT) c.1454-105_1454-104insTTTTT (n.1454-105_1454-104insTTTTT) c.236-105_236-104insTTTTT (n.236-105_236-104insTTTTT) n.606-27_606-26insTTTTT | gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTT | CA985411350 | ACE | c.2306-105_2306-104insTTTTTT (n.2306-105_2306-104insTTTTTT) c.584-105_584-104insTTTTTT (n.584-105_584-104insTTTTTT) c.*376-105_*376-104insTTTTTT (n.*376-105_*376-104insTTTTTT) c.487-27_487-26insTTTTTT (n.487-27_487-26insTTTTTT) c.584-27_584-26insTTTTTT (n.584-27_584-26insTTTTTT) c.*226-105_*226-104insTTTTTT (n.*226-105_*226-104insTTTTTT) c.74-105_74-104insTTTTTT (n.74-105_74-104insTTTTTT) n.252-105_252-104insTTTTTT c.1757-105_1757-104insTTTTTT (n.1757-105_1757-104insTTTTTT) c.644-105_644-104insTTTTTT (n.644-105_644-104insTTTTTT) c.1739-105_1739-104insTTTTTT (n.1739-105_1739-104insTTTTTT) c.1454-105_1454-104insTTTTTT (n.1454-105_1454-104insTTTTTT) c.236-105_236-104insTTTTTT (n.236-105_236-104insTTTTTT) n.606-27_606-26insTTTTTT | gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTT | CA627148124 | ACE | c.2306-105_2306-104insTTTTTTT (n.2306-105_2306-104insTTTTTTT) c.584-105_584-104insTTTTTTT (n.584-105_584-104insTTTTTTT) c.*376-105_*376-104insTTTTTTT (n.*376-105_*376-104insTTTTTTT) c.487-27_487-26insTTTTTTT (n.487-27_487-26insTTTTTTT) c.584-27_584-26insTTTTTTT (n.584-27_584-26insTTTTTTT) c.*226-105_*226-104insTTTTTTT (n.*226-105_*226-104insTTTTTTT) c.74-105_74-104insTTTTTTT (n.74-105_74-104insTTTTTTT) n.252-105_252-104insTTTTTTT c.1757-105_1757-104insTTTTTTT (n.1757-105_1757-104insTTTTTTT) c.644-105_644-104insTTTTTTT (n.644-105_644-104insTTTTTTT) c.1739-105_1739-104insTTTTTTT (n.1739-105_1739-104insTTTTTTT) c.1454-105_1454-104insTTTTTTT (n.1454-105_1454-104insTTTTTTT) c.236-105_236-104insTTTTTTT (n.236-105_236-104insTTTTTTT) n.606-27_606-26insTTTTTTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |