Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63488507_63488515del | CA2639263579 | ACE | c.2306-141_2306-133del (n.2306-141_2306-133del) c.584-141_584-133del (n.584-141_584-133del) c.*376-141_*376-133del (n.*376-141_*376-133del) c.487-63_487-55del (n.487-63_487-55del) c.584-63_584-55del (n.584-63_584-55del) c.*226-141_*226-133del (n.*226-141_*226-133del) c.74-141_74-133del (n.74-141_74-133del) n.252-141_252-133del c.1757-141_1757-133del (n.1757-141_1757-133del) c.644-141_644-133del (n.644-141_644-133del) c.1739-141_1739-133del (n.1739-141_1739-133del) c.1454-141_1454-133del (n.1454-141_1454-133del) c.236-141_236-133del (n.236-141_236-133del) n.606-63_606-55del | gnomAD v4 |
17 | g.63488513C>A | CA2639263594 | ACE | c.2306-135C>A (n.2306-135C>A) c.584-135C>A (n.584-135C>A) c.*376-135C>A (n.*376-135C>A) c.487-57C>A (n.487-57C>A) c.584-57C>A (n.584-57C>A) c.*226-135C>A (n.*226-135C>A) c.74-135C>A (n.74-135C>A) n.252-135C>A c.1757-135C>A (n.1757-135C>A) c.644-135C>A (n.644-135C>A) c.1739-135C>A (n.1739-135C>A) c.1454-135C>A (n.1454-135C>A) c.236-135C>A (n.236-135C>A) n.606-57C>A | gnomAD v4 |
17 | g.63488513C= | CA2269945826 | ACE | c.2306-135C= (n.2306-135C=) c.584-135C= (n.584-135C=) c.*376-135C= (n.*376-135C=) c.487-57C= (n.487-57C=) c.584-57C= (n.584-57C=) c.*226-135C= (n.*226-135C=) c.74-135C= (n.74-135C=) n.252-135C= c.1757-135C= (n.1757-135C=) c.644-135C= (n.644-135C=) c.1739-135C= (n.1739-135C=) c.1454-135C= (n.1454-135C=) c.236-135C= (n.236-135C=) n.606-57C= | |
17 | g.63488513C>G | CA2639263595 | ACE | c.2306-135C>G (n.2306-135C>G) c.584-135C>G (n.584-135C>G) c.*376-135C>G (n.*376-135C>G) c.487-57C>G (n.487-57C>G) c.584-57C>G (n.584-57C>G) c.*226-135C>G (n.*226-135C>G) c.74-135C>G (n.74-135C>G) n.252-135C>G c.1757-135C>G (n.1757-135C>G) c.644-135C>G (n.644-135C>G) c.1739-135C>G (n.1739-135C>G) c.1454-135C>G (n.1454-135C>G) c.236-135C>G (n.236-135C>G) n.606-57C>G | gnomAD v4 |
17 | g.63488513C>T | CA627148113 | ACE | c.2306-135C>T (n.2306-135C>T) c.584-135C>T (n.584-135C>T) c.*376-135C>T (n.*376-135C>T) c.487-57C>T (n.487-57C>T) c.584-57C>T (n.584-57C>T) c.*226-135C>T (n.*226-135C>T) c.74-135C>T (n.74-135C>T) n.252-135C>T c.1757-135C>T (n.1757-135C>T) c.644-135C>T (n.644-135C>T) c.1739-135C>T (n.1739-135C>T) c.1454-135C>T (n.1454-135C>T) c.236-135C>T (n.236-135C>T) n.606-57C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488514T>C | CA2639263596 | ACE | c.2306-134T>C (n.2306-134T>C) c.584-134T>C (n.584-134T>C) c.*376-134T>C (n.*376-134T>C) c.487-56T>C (n.487-56T>C) c.584-56T>C (n.584-56T>C) c.*226-134T>C (n.*226-134T>C) c.74-134T>C (n.74-134T>C) n.252-134T>C c.1757-134T>C (n.1757-134T>C) c.644-134T>C (n.644-134T>C) c.1739-134T>C (n.1739-134T>C) c.1454-134T>C (n.1454-134T>C) c.236-134T>C (n.236-134T>C) n.606-56T>C | gnomAD v4 |
17 | g.63488515C>A | CA2639263597 | ACE | c.2306-133C>A (n.2306-133C>A) c.584-133C>A (n.584-133C>A) c.*376-133C>A (n.*376-133C>A) c.487-55C>A (n.487-55C>A) c.584-55C>A (n.584-55C>A) c.*226-133C>A (n.*226-133C>A) c.74-133C>A (n.74-133C>A) n.252-133C>A c.1757-133C>A (n.1757-133C>A) c.644-133C>A (n.644-133C>A) c.1739-133C>A (n.1739-133C>A) c.1454-133C>A (n.1454-133C>A) c.236-133C>A (n.236-133C>A) n.606-55C>A | gnomAD v4 |
17 | g.63488515C= | CA2269945827 | ACE | c.2306-133C= (n.2306-133C=) c.584-133C= (n.584-133C=) c.*376-133C= (n.*376-133C=) c.487-55C= (n.487-55C=) c.584-55C= (n.584-55C=) c.*226-133C= (n.*226-133C=) c.74-133C= (n.74-133C=) n.252-133C= c.1757-133C= (n.1757-133C=) c.644-133C= (n.644-133C=) c.1739-133C= (n.1739-133C=) c.1454-133C= (n.1454-133C=) c.236-133C= (n.236-133C=) n.606-55C= | |
17 | g.63488515C>G | CA292883007 | ACE | c.2306-133C>G (n.2306-133C>G) c.584-133C>G (n.584-133C>G) c.*376-133C>G (n.*376-133C>G) c.487-55C>G (n.487-55C>G) c.584-55C>G (n.584-55C>G) c.*226-133C>G (n.*226-133C>G) c.74-133C>G (n.74-133C>G) n.252-133C>G c.1757-133C>G (n.1757-133C>G) c.644-133C>G (n.644-133C>G) c.1739-133C>G (n.1739-133C>G) c.1454-133C>G (n.1454-133C>G) c.236-133C>G (n.236-133C>G) n.606-55C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488515C>T | CA2639263598 | ACE | c.2306-133C>T (n.2306-133C>T) c.584-133C>T (n.584-133C>T) c.*376-133C>T (n.*376-133C>T) c.487-55C>T (n.487-55C>T) c.584-55C>T (n.584-55C>T) c.*226-133C>T (n.*226-133C>T) c.74-133C>T (n.74-133C>T) n.252-133C>T c.1757-133C>T (n.1757-133C>T) c.644-133C>T (n.644-133C>T) c.1739-133C>T (n.1739-133C>T) c.1454-133C>T (n.1454-133C>T) c.236-133C>T (n.236-133C>T) n.606-55C>T | gnomAD v4 |
17 | g.63488516T>A | CA2639263599 | ACE | c.2306-132T>A (n.2306-132T>A) c.584-132T>A (n.584-132T>A) c.*376-132T>A (n.*376-132T>A) c.487-54T>A (n.487-54T>A) c.584-54T>A (n.584-54T>A) c.*226-132T>A (n.*226-132T>A) c.74-132T>A (n.74-132T>A) n.252-132T>A c.1757-132T>A (n.1757-132T>A) c.644-132T>A (n.644-132T>A) c.1739-132T>A (n.1739-132T>A) c.1454-132T>A (n.1454-132T>A) c.236-132T>A (n.236-132T>A) n.606-54T>A | gnomAD v4 |
17 | g.63488516T>C | CA2639263600 | ACE | c.2306-132T>C (n.2306-132T>C) c.584-132T>C (n.584-132T>C) c.*376-132T>C (n.*376-132T>C) c.487-54T>C (n.487-54T>C) c.584-54T>C (n.584-54T>C) c.*226-132T>C (n.*226-132T>C) c.74-132T>C (n.74-132T>C) n.252-132T>C c.1757-132T>C (n.1757-132T>C) c.644-132T>C (n.644-132T>C) c.1739-132T>C (n.1739-132T>C) c.1454-132T>C (n.1454-132T>C) c.236-132T>C (n.236-132T>C) n.606-54T>C | gnomAD v4 |
17 | g.63488517A>C | CA2639263601 | ACE | c.2306-131A>C (n.2306-131A>C) c.584-131A>C (n.584-131A>C) c.*376-131A>C (n.*376-131A>C) c.487-53A>C (n.487-53A>C) c.584-53A>C (n.584-53A>C) c.*226-131A>C (n.*226-131A>C) c.74-131A>C (n.74-131A>C) n.252-131A>C c.1757-131A>C (n.1757-131A>C) c.644-131A>C (n.644-131A>C) c.1739-131A>C (n.1739-131A>C) c.1454-131A>C (n.1454-131A>C) c.236-131A>C (n.236-131A>C) n.606-53A>C | gnomAD v4 |
17 | g.63488517A>T | CA2639263602 | ACE | c.2306-131A>T (n.2306-131A>T) c.584-131A>T (n.584-131A>T) c.*376-131A>T (n.*376-131A>T) c.487-53A>T (n.487-53A>T) c.584-53A>T (n.584-53A>T) c.*226-131A>T (n.*226-131A>T) c.74-131A>T (n.74-131A>T) n.252-131A>T c.1757-131A>T (n.1757-131A>T) c.644-131A>T (n.644-131A>T) c.1739-131A>T (n.1739-131A>T) c.1454-131A>T (n.1454-131A>T) c.236-131A>T (n.236-131A>T) n.606-53A>T | gnomAD v4 |
17 | g.63488518G>C | CA2639263603 | ACE | c.2306-130G>C (n.2306-130G>C) c.584-130G>C (n.584-130G>C) c.*376-130G>C (n.*376-130G>C) c.487-52G>C (n.487-52G>C) c.584-52G>C (n.584-52G>C) c.*226-130G>C (n.*226-130G>C) c.74-130G>C (n.74-130G>C) n.252-130G>C c.1757-130G>C (n.1757-130G>C) c.644-130G>C (n.644-130G>C) c.1739-130G>C (n.1739-130G>C) c.1454-130G>C (n.1454-130G>C) c.236-130G>C (n.236-130G>C) n.606-52G>C | gnomAD v4 |
17 | g.63488518G= | CA2269945828 | ACE | c.2306-130G= (n.2306-130G=) c.584-130G= (n.584-130G=) c.*376-130G= (n.*376-130G=) c.487-52G= (n.487-52G=) c.584-52G= (n.584-52G=) c.*226-130G= (n.*226-130G=) c.74-130G= (n.74-130G=) n.252-130G= c.1757-130G= (n.1757-130G=) c.644-130G= (n.644-130G=) c.1739-130G= (n.1739-130G=) c.1454-130G= (n.1454-130G=) c.236-130G= (n.236-130G=) n.606-52G= | |
17 | g.63488518G>T | CA985411309 | ACE | c.2306-130G>T (n.2306-130G>T) c.584-130G>T (n.584-130G>T) c.*376-130G>T (n.*376-130G>T) c.487-52G>T (n.487-52G>T) c.584-52G>T (n.584-52G>T) c.*226-130G>T (n.*226-130G>T) c.74-130G>T (n.74-130G>T) n.252-130G>T c.1757-130G>T (n.1757-130G>T) c.644-130G>T (n.644-130G>T) c.1739-130G>T (n.1739-130G>T) c.1454-130G>T (n.1454-130G>T) c.236-130G>T (n.236-130G>T) n.606-52G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488519A= | CA2269945829 | ACE | c.2306-129A= (n.2306-129A=) c.584-129A= (n.584-129A=) c.*376-129A= (n.*376-129A=) c.487-51A= (n.487-51A=) c.584-51A= (n.584-51A=) c.*226-129A= (n.*226-129A=) c.74-129A= (n.74-129A=) n.252-129A= c.1757-129A= (n.1757-129A=) c.644-129A= (n.644-129A=) c.1739-129A= (n.1739-129A=) c.1454-129A= (n.1454-129A=) c.236-129A= (n.236-129A=) n.606-51A= | |
17 | g.63488519A>C | CA985411316 | ACE | c.2306-129A>C (n.2306-129A>C) c.584-129A>C (n.584-129A>C) c.*376-129A>C (n.*376-129A>C) c.487-51A>C (n.487-51A>C) c.584-51A>C (n.584-51A>C) c.*226-129A>C (n.*226-129A>C) c.74-129A>C (n.74-129A>C) n.252-129A>C c.1757-129A>C (n.1757-129A>C) c.644-129A>C (n.644-129A>C) c.1739-129A>C (n.1739-129A>C) c.1454-129A>C (n.1454-129A>C) c.236-129A>C (n.236-129A>C) n.606-51A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488519A>T | CA2639263604 | ACE | c.2306-129A>T (n.2306-129A>T) c.584-129A>T (n.584-129A>T) c.*376-129A>T (n.*376-129A>T) c.487-51A>T (n.487-51A>T) c.584-51A>T (n.584-51A>T) c.*226-129A>T (n.*226-129A>T) c.74-129A>T (n.74-129A>T) n.252-129A>T c.1757-129A>T (n.1757-129A>T) c.644-129A>T (n.644-129A>T) c.1739-129A>T (n.1739-129A>T) c.1454-129A>T (n.1454-129A>T) c.236-129A>T (n.236-129A>T) n.606-51A>T | gnomAD v4 |
17 | g.63488520C>A | CA8700012 | ACE | c.2306-128C>A (n.2306-128C>A) c.584-128C>A (n.584-128C>A) c.*376-128C>A (n.*376-128C>A) c.487-50C>A (n.487-50C>A) c.584-50C>A (n.584-50C>A) c.*226-128C>A (n.*226-128C>A) c.74-128C>A (n.74-128C>A) n.252-128C>A c.1757-128C>A (n.1757-128C>A) c.644-128C>A (n.644-128C>A) c.1739-128C>A (n.1739-128C>A) c.1454-128C>A (n.1454-128C>A) c.236-128C>A (n.236-128C>A) n.606-50C>A | dbSNP ExAC gnomAD v4 |
17 | g.63488520C= | CA2269945830 | ACE | c.2306-128C= (n.2306-128C=) c.584-128C= (n.584-128C=) c.*376-128C= (n.*376-128C=) c.487-50C= (n.487-50C=) c.584-50C= (n.584-50C=) c.*226-128C= (n.*226-128C=) c.74-128C= (n.74-128C=) n.252-128C= c.1757-128C= (n.1757-128C=) c.644-128C= (n.644-128C=) c.1739-128C= (n.1739-128C=) c.1454-128C= (n.1454-128C=) c.236-128C= (n.236-128C=) n.606-50C= | |
17 | g.63488520C>T | CA2639263605 | ACE | c.2306-128C>T (n.2306-128C>T) c.584-128C>T (n.584-128C>T) c.*376-128C>T (n.*376-128C>T) c.487-50C>T (n.487-50C>T) c.584-50C>T (n.584-50C>T) c.*226-128C>T (n.*226-128C>T) c.74-128C>T (n.74-128C>T) n.252-128C>T c.1757-128C>T (n.1757-128C>T) c.644-128C>T (n.644-128C>T) c.1739-128C>T (n.1739-128C>T) c.1454-128C>T (n.1454-128C>T) c.236-128C>T (n.236-128C>T) n.606-50C>T | gnomAD v4 |
17 | g.63488521C>A | CA2639263606 | ACE | c.2306-127C>A (n.2306-127C>A) c.584-127C>A (n.584-127C>A) c.*376-127C>A (n.*376-127C>A) c.487-49C>A (n.487-49C>A) c.584-49C>A (n.584-49C>A) c.*226-127C>A (n.*226-127C>A) c.74-127C>A (n.74-127C>A) n.252-127C>A c.1757-127C>A (n.1757-127C>A) c.644-127C>A (n.644-127C>A) c.1739-127C>A (n.1739-127C>A) c.1454-127C>A (n.1454-127C>A) c.236-127C>A (n.236-127C>A) n.606-49C>A | gnomAD v4 |
17 | g.63488521C= | CA2269945831 | ACE | c.2306-127C= (n.2306-127C=) c.584-127C= (n.584-127C=) c.*376-127C= (n.*376-127C=) c.487-49C= (n.487-49C=) c.584-49C= (n.584-49C=) c.*226-127C= (n.*226-127C=) c.74-127C= (n.74-127C=) n.252-127C= c.1757-127C= (n.1757-127C=) c.644-127C= (n.644-127C=) c.1739-127C= (n.1739-127C=) c.1454-127C= (n.1454-127C=) c.236-127C= (n.236-127C=) n.606-49C= | |
17 | g.63488521C>G | CA8700013 | ACE | c.2306-127C>G (n.2306-127C>G) c.584-127C>G (n.584-127C>G) c.*376-127C>G (n.*376-127C>G) c.487-49C>G (n.487-49C>G) c.584-49C>G (n.584-49C>G) c.*226-127C>G (n.*226-127C>G) c.74-127C>G (n.74-127C>G) n.252-127C>G c.1757-127C>G (n.1757-127C>G) c.644-127C>G (n.644-127C>G) c.1739-127C>G (n.1739-127C>G) c.1454-127C>G (n.1454-127C>G) c.236-127C>G (n.236-127C>G) n.606-49C>G | dbSNP ExAC |
17 | g.63488521C>T | CA627148114 | ACE | c.2306-127C>T (n.2306-127C>T) c.584-127C>T (n.584-127C>T) c.*376-127C>T (n.*376-127C>T) c.487-49C>T (n.487-49C>T) c.584-49C>T (n.584-49C>T) c.*226-127C>T (n.*226-127C>T) c.74-127C>T (n.74-127C>T) n.252-127C>T c.1757-127C>T (n.1757-127C>T) c.644-127C>T (n.644-127C>T) c.1739-127C>T (n.1739-127C>T) c.1454-127C>T (n.1454-127C>T) c.236-127C>T (n.236-127C>T) n.606-49C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488522T>C | CA2639263607 | ACE | c.2306-126T>C (n.2306-126T>C) c.584-126T>C (n.584-126T>C) c.*376-126T>C (n.*376-126T>C) c.487-48T>C (n.487-48T>C) c.584-48T>C (n.584-48T>C) c.*226-126T>C (n.*226-126T>C) c.74-126T>C (n.74-126T>C) n.252-126T>C c.1757-126T>C (n.1757-126T>C) c.644-126T>C (n.644-126T>C) c.1739-126T>C (n.1739-126T>C) c.1454-126T>C (n.1454-126T>C) c.236-126T>C (n.236-126T>C) n.606-48T>C | gnomAD v4 |
17 | g.63488522T>G | CA8700014 | ACE | c.2306-126T>G (n.2306-126T>G) c.584-126T>G (n.584-126T>G) c.*376-126T>G (n.*376-126T>G) c.487-48T>G (n.487-48T>G) c.584-48T>G (n.584-48T>G) c.*226-126T>G (n.*226-126T>G) c.74-126T>G (n.74-126T>G) n.252-126T>G c.1757-126T>G (n.1757-126T>G) c.644-126T>G (n.644-126T>G) c.1739-126T>G (n.1739-126T>G) c.1454-126T>G (n.1454-126T>G) c.236-126T>G (n.236-126T>G) n.606-48T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488522T= | CA2269945832 | ACE | c.2306-126T= (n.2306-126T=) c.584-126T= (n.584-126T=) c.*376-126T= (n.*376-126T=) c.487-48T= (n.487-48T=) c.584-48T= (n.584-48T=) c.*226-126T= (n.*226-126T=) c.74-126T= (n.74-126T=) n.252-126T= c.1757-126T= (n.1757-126T=) c.644-126T= (n.644-126T=) c.1739-126T= (n.1739-126T=) c.1454-126T= (n.1454-126T=) c.236-126T= (n.236-126T=) n.606-48T= | |
17 | g.63488523G>A | CA2639263608 | ACE | c.2306-125G>A (n.2306-125G>A) c.584-125G>A (n.584-125G>A) c.*376-125G>A (n.*376-125G>A) c.487-47G>A (n.487-47G>A) c.584-47G>A (n.584-47G>A) c.*226-125G>A (n.*226-125G>A) c.74-125G>A (n.74-125G>A) n.252-125G>A c.1757-125G>A (n.1757-125G>A) c.644-125G>A (n.644-125G>A) c.1739-125G>A (n.1739-125G>A) c.1454-125G>A (n.1454-125G>A) c.236-125G>A (n.236-125G>A) n.606-47G>A | gnomAD v4 |
17 | g.63488523G>T | CA2639263609 | ACE | c.2306-125G>T (n.2306-125G>T) c.584-125G>T (n.584-125G>T) c.*376-125G>T (n.*376-125G>T) c.487-47G>T (n.487-47G>T) c.584-47G>T (n.584-47G>T) c.*226-125G>T (n.*226-125G>T) c.74-125G>T (n.74-125G>T) n.252-125G>T c.1757-125G>T (n.1757-125G>T) c.644-125G>T (n.644-125G>T) c.1739-125G>T (n.1739-125G>T) c.1454-125G>T (n.1454-125G>T) c.236-125G>T (n.236-125G>T) n.606-47G>T | gnomAD v4 |
17 | g.63488523_63488525delinsGCT | CA2269945834 | ACE | c.2306-125_2306-123delinsGCT (n.2306-125_2306-123delinsGCT) c.584-125_584-123delinsGCT (n.584-125_584-123delinsGCT) c.*376-125_*376-123delinsGCT (n.*376-125_*376-123delinsGCT) c.487-47_487-45delinsGCT (n.487-47_487-45delinsGCT) c.584-47_584-45delinsGCT (n.584-47_584-45delinsGCT) c.*226-125_*226-123delinsGCT (n.*226-125_*226-123delinsGCT) c.74-125_74-123delinsGCT (n.74-125_74-123delinsGCT) n.252-125_252-123delinsGCT c.1757-125_1757-123delinsGCT (n.1757-125_1757-123delinsGCT) c.644-125_644-123delinsGCT (n.644-125_644-123delinsGCT) c.1739-125_1739-123delinsGCT (n.1739-125_1739-123delinsGCT) c.1454-125_1454-123delinsGCT (n.1454-125_1454-123delinsGCT) c.236-125_236-123delinsGCT (n.236-125_236-123delinsGCT) n.606-47_606-45delinsGCT | |
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.63488524C>A | CA985411322 | ACE | c.2306-124C>A (n.2306-124C>A) c.584-124C>A (n.584-124C>A) c.*376-124C>A (n.*376-124C>A) c.487-46C>A (n.487-46C>A) c.584-46C>A (n.584-46C>A) c.*226-124C>A (n.*226-124C>A) c.74-124C>A (n.74-124C>A) n.252-124C>A c.1757-124C>A (n.1757-124C>A) c.644-124C>A (n.644-124C>A) c.1739-124C>A (n.1739-124C>A) c.1454-124C>A (n.1454-124C>A) c.236-124C>A (n.236-124C>A) n.606-46C>A | gnomAD v3 gnomAD v4 |
17 | g.63488524C>T | CA2639263610 | ACE | c.2306-124C>T (n.2306-124C>T) c.584-124C>T (n.584-124C>T) c.*376-124C>T (n.*376-124C>T) c.487-46C>T (n.487-46C>T) c.584-46C>T (n.584-46C>T) c.*226-124C>T (n.*226-124C>T) c.74-124C>T (n.74-124C>T) n.252-124C>T c.1757-124C>T (n.1757-124C>T) c.644-124C>T (n.644-124C>T) c.1739-124C>T (n.1739-124C>T) c.1454-124C>T (n.1454-124C>T) c.236-124C>T (n.236-124C>T) n.606-46C>T | gnomAD v4 |
17 | g.63488524_63488525delinsGGATTACAG | CA919875831 | ACE | c.2306-124_2306-123delinsGGATTACAG (n.2306-124_2306-123delinsGGATTACAG) c.584-124_584-123delinsGGATTACAG (n.584-124_584-123delinsGGATTACAG) c.*376-124_*376-123delinsGGATTACAG (n.*376-124_*376-123delinsGGATTACAG) c.487-46_487-45delinsGGATTACAG (n.487-46_487-45delinsGGATTACAG) c.584-46_584-45delinsGGATTACAG (n.584-46_584-45delinsGGATTACAG) c.*226-124_*226-123delinsGGATTACAG (n.*226-124_*226-123delinsGGATTACAG) c.74-124_74-123delinsGGATTACAG (n.74-124_74-123delinsGGATTACAG) n.252-124_252-123delinsGGATTACAG c.1757-124_1757-123delinsGGATTACAG (n.1757-124_1757-123delinsGGATTACAG) c.644-124_644-123delinsGGATTACAG (n.644-124_644-123delinsGGATTACAG) c.1739-124_1739-123delinsGGATTACAG (n.1739-124_1739-123delinsGGATTACAG) c.1454-124_1454-123delinsGGATTACAG (n.1454-124_1454-123delinsGGATTACAG) c.236-124_236-123delinsGGATTACAG (n.236-124_236-123delinsGGATTACAG) n.606-46_606-45delinsGGATTACAG | dbSNP |
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.63488525T>C | CA627148115 | ACE | c.2306-123T>C (n.2306-123T>C) c.584-123T>C (n.584-123T>C) c.*376-123T>C (n.*376-123T>C) c.487-45T>C (n.487-45T>C) c.584-45T>C (n.584-45T>C) c.*226-123T>C (n.*226-123T>C) c.74-123T>C (n.74-123T>C) n.252-123T>C c.1757-123T>C (n.1757-123T>C) c.644-123T>C (n.644-123T>C) c.1739-123T>C (n.1739-123T>C) c.1454-123T>C (n.1454-123T>C) c.236-123T>C (n.236-123T>C) n.606-45T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488525T= | CA2269945835 | ACE | c.2306-123T= (n.2306-123T=) c.584-123T= (n.584-123T=) c.*376-123T= (n.*376-123T=) c.487-45T= (n.487-45T=) c.584-45T= (n.584-45T=) c.*226-123T= (n.*226-123T=) c.74-123T= (n.74-123T=) n.252-123T= c.1757-123T= (n.1757-123T=) c.644-123T= (n.644-123T=) c.1739-123T= (n.1739-123T=) c.1454-123T= (n.1454-123T=) c.236-123T= (n.236-123T=) n.606-45T= | |
17 | g.63488526G>A | CA8700017 | ACE | c.2306-122G>A (n.2306-122G>A) c.584-122G>A (n.584-122G>A) c.*376-122G>A (n.*376-122G>A) c.487-44G>A (n.487-44G>A) c.584-44G>A (n.584-44G>A) c.*226-122G>A (n.*226-122G>A) c.74-122G>A (n.74-122G>A) n.252-122G>A c.1757-122G>A (n.1757-122G>A) c.644-122G>A (n.644-122G>A) c.1739-122G>A (n.1739-122G>A) c.1454-122G>A (n.1454-122G>A) c.236-122G>A (n.236-122G>A) n.606-44G>A | dbSNP ExAC gnomAD v2 |
17 | g.63488526G= | CA2269945836 | ACE | c.2306-122G= (n.2306-122G=) c.584-122G= (n.584-122G=) c.*376-122G= (n.*376-122G=) c.487-44G= (n.487-44G=) c.584-44G= (n.584-44G=) c.*226-122G= (n.*226-122G=) c.74-122G= (n.74-122G=) n.252-122G= c.1757-122G= (n.1757-122G=) c.644-122G= (n.644-122G=) c.1739-122G= (n.1739-122G=) c.1454-122G= (n.1454-122G=) c.236-122G= (n.236-122G=) n.606-44G= | |
17 | g.63488526G>T | CA2639263611 | ACE | c.2306-122G>T (n.2306-122G>T) c.584-122G>T (n.584-122G>T) c.*376-122G>T (n.*376-122G>T) c.487-44G>T (n.487-44G>T) c.584-44G>T (n.584-44G>T) c.*226-122G>T (n.*226-122G>T) c.74-122G>T (n.74-122G>T) n.252-122G>T c.1757-122G>T (n.1757-122G>T) c.644-122G>T (n.644-122G>T) c.1739-122G>T (n.1739-122G>T) c.1454-122G>T (n.1454-122G>T) c.236-122G>T (n.236-122G>T) n.606-44G>T | gnomAD v4 |
17 | g.63488526_63488527insGGATTACAGG | CA8700016 | ACE | c.2306-122_2306-121insGGATTACAGG (n.2306-122_2306-121insGGATTACAGG) c.584-122_584-121insGGATTACAGG (n.584-122_584-121insGGATTACAGG) c.*376-122_*376-121insGGATTACAGG (n.*376-122_*376-121insGGATTACAGG) c.487-44_487-43insGGATTACAGG (n.487-44_487-43insGGATTACAGG) c.584-44_584-43insGGATTACAGG (n.584-44_584-43insGGATTACAGG) c.*226-122_*226-121insGGATTACAGG (n.*226-122_*226-121insGGATTACAGG) c.74-122_74-121insGGATTACAGG (n.74-122_74-121insGGATTACAGG) n.252-122_252-121insGGATTACAGG c.1757-122_1757-121insGGATTACAGG (n.1757-122_1757-121insGGATTACAGG) c.644-122_644-121insGGATTACAGG (n.644-122_644-121insGGATTACAGG) c.1739-122_1739-121insGGATTACAGG (n.1739-122_1739-121insGGATTACAGG) c.1454-122_1454-121insGGATTACAGG (n.1454-122_1454-121insGGATTACAGG) c.236-122_236-121insGGATTACAGG (n.236-122_236-121insGGATTACAGG) n.606-44_606-43insGGATTACAGG | dbSNP ExAC gnomAD v4 |
17 | g.63488527C>A | CA2639263612 | ACE | c.2306-121C>A (n.2306-121C>A) c.584-121C>A (n.584-121C>A) c.*376-121C>A (n.*376-121C>A) c.487-43C>A (n.487-43C>A) c.584-43C>A (n.584-43C>A) c.*226-121C>A (n.*226-121C>A) c.74-121C>A (n.74-121C>A) n.252-121C>A c.1757-121C>A (n.1757-121C>A) c.644-121C>A (n.644-121C>A) c.1739-121C>A (n.1739-121C>A) c.1454-121C>A (n.1454-121C>A) c.236-121C>A (n.236-121C>A) n.606-43C>A | gnomAD v4 |
17 | g.63488527C= | CA2269945837 | ACE | c.2306-121C= (n.2306-121C=) c.584-121C= (n.584-121C=) c.*376-121C= (n.*376-121C=) c.487-43C= (n.487-43C=) c.584-43C= (n.584-43C=) c.*226-121C= (n.*226-121C=) c.74-121C= (n.74-121C=) n.252-121C= c.1757-121C= (n.1757-121C=) c.644-121C= (n.644-121C=) c.1739-121C= (n.1739-121C=) c.1454-121C= (n.1454-121C=) c.236-121C= (n.236-121C=) n.606-43C= | |
17 | g.63488527C>G | CA292883042 | ACE | c.2306-121C>G (n.2306-121C>G) c.584-121C>G (n.584-121C>G) c.*376-121C>G (n.*376-121C>G) c.487-43C>G (n.487-43C>G) c.584-43C>G (n.584-43C>G) c.*226-121C>G (n.*226-121C>G) c.74-121C>G (n.74-121C>G) n.252-121C>G c.1757-121C>G (n.1757-121C>G) c.644-121C>G (n.644-121C>G) c.1739-121C>G (n.1739-121C>G) c.1454-121C>G (n.1454-121C>G) c.236-121C>G (n.236-121C>G) n.606-43C>G | dbSNP |
17 | g.63488527C>T | CA2639263613 | ACE | c.2306-121C>T (n.2306-121C>T) c.584-121C>T (n.584-121C>T) c.*376-121C>T (n.*376-121C>T) c.487-43C>T (n.487-43C>T) c.584-43C>T (n.584-43C>T) c.*226-121C>T (n.*226-121C>T) c.74-121C>T (n.74-121C>T) n.252-121C>T c.1757-121C>T (n.1757-121C>T) c.644-121C>T (n.644-121C>T) c.1739-121C>T (n.1739-121C>T) c.1454-121C>T (n.1454-121C>T) c.236-121C>T (n.236-121C>T) n.606-43C>T | gnomAD v4 |
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.63488528C= | CA2269945839 | ACE | c.2306-120C= (n.2306-120C=) c.584-120C= (n.584-120C=) c.*376-120C= (n.*376-120C=) c.487-42C= (n.487-42C=) c.584-42C= (n.584-42C=) c.*226-120C= (n.*226-120C=) c.74-120C= (n.74-120C=) n.252-120C= c.1757-120C= (n.1757-120C=) c.644-120C= (n.644-120C=) c.1739-120C= (n.1739-120C=) c.1454-120C= (n.1454-120C=) c.236-120C= (n.236-120C=) n.606-42C= | |
17 | g.63488528C>G | CA8700018 | ACE | c.2306-120C>G (n.2306-120C>G) c.584-120C>G (n.584-120C>G) c.*376-120C>G (n.*376-120C>G) c.487-42C>G (n.487-42C>G) c.584-42C>G (n.584-42C>G) c.*226-120C>G (n.*226-120C>G) c.74-120C>G (n.74-120C>G) n.252-120C>G c.1757-120C>G (n.1757-120C>G) c.644-120C>G (n.644-120C>G) c.1739-120C>G (n.1739-120C>G) c.1454-120C>G (n.1454-120C>G) c.236-120C>G (n.236-120C>G) n.606-42C>G | dbSNP ExAC gnomAD v4 |
17 | g.63488528C>T | CA292883067 | ACE | c.2306-120C>T (n.2306-120C>T) c.584-120C>T (n.584-120C>T) c.*376-120C>T (n.*376-120C>T) c.487-42C>T (n.487-42C>T) c.584-42C>T (n.584-42C>T) c.*226-120C>T (n.*226-120C>T) c.74-120C>T (n.74-120C>T) n.252-120C>T c.1757-120C>T (n.1757-120C>T) c.644-120C>T (n.644-120C>T) c.1739-120C>T (n.1739-120C>T) c.1454-120C>T (n.1454-120C>T) c.236-120C>T (n.236-120C>T) n.606-42C>T | dbSNP |
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_63488530insGGGATTACAGGCGTG | CA2741548592 | ACE | c.2306-119_2306-118insGGGATTACAGGCGTG (n.2306-119_2306-118insGGGATTACAGGCGTG) c.584-119_584-118insGGGATTACAGGCGTG (n.584-119_584-118insGGGATTACAGGCGTG) c.*376-119_*376-118insGGGATTACAGGCGTG (n.*376-119_*376-118insGGGATTACAGGCGTG) c.487-41_487-40insGGGATTACAGGCGTG (n.487-41_487-40insGGGATTACAGGCGTG) c.584-41_584-40insGGGATTACAGGCGTG (n.584-41_584-40insGGGATTACAGGCGTG) c.*226-119_*226-118insGGGATTACAGGCGTG (n.*226-119_*226-118insGGGATTACAGGCGTG) c.74-119_74-118insGGGATTACAGGCGTG (n.74-119_74-118insGGGATTACAGGCGTG) n.252-119_252-118insGGGATTACAGGCGTG c.1757-119_1757-118insGGGATTACAGGCGTG (n.1757-119_1757-118insGGGATTACAGGCGTG) c.644-119_644-118insGGGATTACAGGCGTG (n.644-119_644-118insGGGATTACAGGCGTG) c.1739-119_1739-118insGGGATTACAGGCGTG (n.1739-119_1739-118insGGGATTACAGGCGTG) c.1454-119_1454-118insGGGATTACAGGCGTG (n.1454-119_1454-118insGGGATTACAGGCGTG) c.236-119_236-118insGGGATTACAGGCGTG (n.236-119_236-118insGGGATTACAGGCGTG) n.606-41_606-40insGGGATTACAGGCGTG | |
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.63488543_63488544insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT | CA2810114457 | ACE | c.2306-105_2306-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.2306-105_2306-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.584-105_584-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.584-105_584-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.*376-105_*376-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.*376-105_*376-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.487-27_487-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.487-27_487-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.584-27_584-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.584-27_584-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.*226-105_*226-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.*226-105_*226-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.74-105_74-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.74-105_74-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) n.252-105_252-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT c.1757-105_1757-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.1757-105_1757-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.644-105_644-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.644-105_644-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.1739-105_1739-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.1739-105_1739-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.1454-105_1454-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.1454-105_1454-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.236-105_236-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.236-105_236-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) n.606-27_606-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT | |
17 | g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT | CA2810114458 | ACE | c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) n.252-105_252-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT c.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) c.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT (n.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT) n.606-27_606-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATACAGTCACTTTT | |
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.63488539_63488540insGGTTTTTTTTTTTTT | CA2810114459 | ACE | c.2306-109_2306-108insGGTTTTTTTTTTTTT (n.2306-109_2306-108insGGTTTTTTTTTTTTT) c.584-109_584-108insGGTTTTTTTTTTTTT (n.584-109_584-108insGGTTTTTTTTTTTTT) c.*376-109_*376-108insGGTTTTTTTTTTTTT (n.*376-109_*376-108insGGTTTTTTTTTTTTT) c.487-31_487-30insGGTTTTTTTTTTTTT (n.487-31_487-30insGGTTTTTTTTTTTTT) c.584-31_584-30insGGTTTTTTTTTTTTT (n.584-31_584-30insGGTTTTTTTTTTTTT) c.*226-109_*226-108insGGTTTTTTTTTTTTT (n.*226-109_*226-108insGGTTTTTTTTTTTTT) c.74-109_74-108insGGTTTTTTTTTTTTT (n.74-109_74-108insGGTTTTTTTTTTTTT) n.252-109_252-108insGGTTTTTTTTTTTTT c.1757-109_1757-108insGGTTTTTTTTTTTTT (n.1757-109_1757-108insGGTTTTTTTTTTTTT) c.644-109_644-108insGGTTTTTTTTTTTTT (n.644-109_644-108insGGTTTTTTTTTTTTT) c.1739-109_1739-108insGGTTTTTTTTTTTTT (n.1739-109_1739-108insGGTTTTTTTTTTTTT) c.1454-109_1454-108insGGTTTTTTTTTTTTT (n.1454-109_1454-108insGGTTTTTTTTTTTTT) c.236-109_236-108insGGTTTTTTTTTTTTT (n.236-109_236-108insGGTTTTTTTTTTTTT) n.606-31_606-30insGGTTTTTTTTTTTTT | |
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 |
17 | g.63488543_63488544insTTTTTTTT | CA985411357 | ACE | c.2306-105_2306-104insTTTTTTTT (n.2306-105_2306-104insTTTTTTTT) c.584-105_584-104insTTTTTTTT (n.584-105_584-104insTTTTTTTT) c.*376-105_*376-104insTTTTTTTT (n.*376-105_*376-104insTTTTTTTT) c.487-27_487-26insTTTTTTTT (n.487-27_487-26insTTTTTTTT) c.584-27_584-26insTTTTTTTT (n.584-27_584-26insTTTTTTTT) c.*226-105_*226-104insTTTTTTTT (n.*226-105_*226-104insTTTTTTTT) c.74-105_74-104insTTTTTTTT (n.74-105_74-104insTTTTTTTT) n.252-105_252-104insTTTTTTTT c.1757-105_1757-104insTTTTTTTT (n.1757-105_1757-104insTTTTTTTT) c.644-105_644-104insTTTTTTTT (n.644-105_644-104insTTTTTTTT) c.1739-105_1739-104insTTTTTTTT (n.1739-105_1739-104insTTTTTTTT) c.1454-105_1454-104insTTTTTTTT (n.1454-105_1454-104insTTTTTTTT) c.236-105_236-104insTTTTTTTT (n.236-105_236-104insTTTTTTTT) n.606-27_606-26insTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTT | CA627148123 | ACE | c.2306-105_2306-104insTTTTTTTTT (n.2306-105_2306-104insTTTTTTTTT) c.584-105_584-104insTTTTTTTTT (n.584-105_584-104insTTTTTTTTT) c.*376-105_*376-104insTTTTTTTTT (n.*376-105_*376-104insTTTTTTTTT) c.487-27_487-26insTTTTTTTTT (n.487-27_487-26insTTTTTTTTT) c.584-27_584-26insTTTTTTTTT (n.584-27_584-26insTTTTTTTTT) c.*226-105_*226-104insTTTTTTTTT (n.*226-105_*226-104insTTTTTTTTT) c.74-105_74-104insTTTTTTTTT (n.74-105_74-104insTTTTTTTTT) n.252-105_252-104insTTTTTTTTT c.1757-105_1757-104insTTTTTTTTT (n.1757-105_1757-104insTTTTTTTTT) c.644-105_644-104insTTTTTTTTT (n.644-105_644-104insTTTTTTTTT) c.1739-105_1739-104insTTTTTTTTT (n.1739-105_1739-104insTTTTTTTTT) c.1454-105_1454-104insTTTTTTTTT (n.1454-105_1454-104insTTTTTTTTT) c.236-105_236-104insTTTTTTTTT (n.236-105_236-104insTTTTTTTTT) n.606-27_606-26insTTTTTTTTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTT | CA627148122 | ACE | c.2306-105_2306-104insTTTTTTTTTT (n.2306-105_2306-104insTTTTTTTTTT) c.584-105_584-104insTTTTTTTTTT (n.584-105_584-104insTTTTTTTTTT) c.*376-105_*376-104insTTTTTTTTTT (n.*376-105_*376-104insTTTTTTTTTT) c.487-27_487-26insTTTTTTTTTT (n.487-27_487-26insTTTTTTTTTT) c.584-27_584-26insTTTTTTTTTT (n.584-27_584-26insTTTTTTTTTT) c.*226-105_*226-104insTTTTTTTTTT (n.*226-105_*226-104insTTTTTTTTTT) c.74-105_74-104insTTTTTTTTTT (n.74-105_74-104insTTTTTTTTTT) n.252-105_252-104insTTTTTTTTTT c.1757-105_1757-104insTTTTTTTTTT (n.1757-105_1757-104insTTTTTTTTTT) c.644-105_644-104insTTTTTTTTTT (n.644-105_644-104insTTTTTTTTTT) c.1739-105_1739-104insTTTTTTTTTT (n.1739-105_1739-104insTTTTTTTTTT) c.1454-105_1454-104insTTTTTTTTTT (n.1454-105_1454-104insTTTTTTTTTT) c.236-105_236-104insTTTTTTTTTT (n.236-105_236-104insTTTTTTTTTT) n.606-27_606-26insTTTTTTTTTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTT | CA2639263628 | ACE | c.2306-105_2306-104insTTTTTTTTTTTT (n.2306-105_2306-104insTTTTTTTTTTTT) c.584-105_584-104insTTTTTTTTTTTT (n.584-105_584-104insTTTTTTTTTTTT) c.*376-105_*376-104insTTTTTTTTTTTT (n.*376-105_*376-104insTTTTTTTTTTTT) c.487-27_487-26insTTTTTTTTTTTT (n.487-27_487-26insTTTTTTTTTTTT) c.584-27_584-26insTTTTTTTTTTTT (n.584-27_584-26insTTTTTTTTTTTT) c.*226-105_*226-104insTTTTTTTTTTTT (n.*226-105_*226-104insTTTTTTTTTTTT) c.74-105_74-104insTTTTTTTTTTTT (n.74-105_74-104insTTTTTTTTTTTT) n.252-105_252-104insTTTTTTTTTTTT c.1757-105_1757-104insTTTTTTTTTTTT (n.1757-105_1757-104insTTTTTTTTTTTT) c.644-105_644-104insTTTTTTTTTTTT (n.644-105_644-104insTTTTTTTTTTTT) c.1739-105_1739-104insTTTTTTTTTTTT (n.1739-105_1739-104insTTTTTTTTTTTT) c.1454-105_1454-104insTTTTTTTTTTTT (n.1454-105_1454-104insTTTTTTTTTTTT) c.236-105_236-104insTTTTTTTTTTTT (n.236-105_236-104insTTTTTTTTTTTT) n.606-27_606-26insTTTTTTTTTTTT | gnomAD v4 |
17 | g.63488541T>G | CA2639263631 | ACE | c.2306-107T>G (n.2306-107T>G) c.584-107T>G (n.584-107T>G) c.*376-107T>G (n.*376-107T>G) c.487-29T>G (n.487-29T>G) c.584-29T>G (n.584-29T>G) c.*226-107T>G (n.*226-107T>G) c.74-107T>G (n.74-107T>G) n.252-107T>G c.1757-107T>G (n.1757-107T>G) c.644-107T>G (n.644-107T>G) c.1739-107T>G (n.1739-107T>G) c.1454-107T>G (n.1454-107T>G) c.236-107T>G (n.236-107T>G) n.606-29T>G | gnomAD v4 |
17 | g.63488542T>G | CA2639263632 | ACE | c.2306-106T>G (n.2306-106T>G) c.584-106T>G (n.584-106T>G) c.*376-106T>G (n.*376-106T>G) c.487-28T>G (n.487-28T>G) c.584-28T>G (n.584-28T>G) c.*226-106T>G (n.*226-106T>G) c.74-106T>G (n.74-106T>G) n.252-106T>G c.1757-106T>G (n.1757-106T>G) c.644-106T>G (n.644-106T>G) c.1739-106T>G (n.1739-106T>G) c.1454-106T>G (n.1454-106T>G) c.236-106T>G (n.236-106T>G) n.606-28T>G | gnomAD v4 |
17 | g.63488543T>A | CA2639263633 | ACE | c.2306-105T>A (n.2306-105T>A) c.584-105T>A (n.584-105T>A) c.*376-105T>A (n.*376-105T>A) c.487-27T>A (n.487-27T>A) c.584-27T>A (n.584-27T>A) c.*226-105T>A (n.*226-105T>A) c.74-105T>A (n.74-105T>A) n.252-105T>A c.1757-105T>A (n.1757-105T>A) c.644-105T>A (n.644-105T>A) c.1739-105T>A (n.1739-105T>A) c.1454-105T>A (n.1454-105T>A) c.236-105T>A (n.236-105T>A) n.606-27T>A | gnomAD v4 |
17 | g.63488543T= | CA2269945850 | ACE | c.2306-105T= (n.2306-105T=) c.584-105T= (n.584-105T=) c.*376-105T= (n.*376-105T=) c.487-27T= (n.487-27T=) c.584-27T= (n.584-27T=) c.*226-105T= (n.*226-105T=) c.74-105T= (n.74-105T=) n.252-105T= c.1757-105T= (n.1757-105T=) c.644-105T= (n.644-105T=) c.1739-105T= (n.1739-105T=) c.1454-105T= (n.1454-105T=) c.236-105T= (n.236-105T=) n.606-27T= | |
17 | g.63488543_63488544delinsTA | CA2269945849 | ACE | c.2306-105_2306-104delinsTA (n.2306-105_2306-104delinsTA) c.584-105_584-104delinsTA (n.584-105_584-104delinsTA) c.*376-105_*376-104delinsTA (n.*376-105_*376-104delinsTA) c.487-27_487-26delinsTA (n.487-27_487-26delinsTA) c.584-27_584-26delinsTA (n.584-27_584-26delinsTA) c.*226-105_*226-104delinsTA (n.*226-105_*226-104delinsTA) c.74-105_74-104delinsTA (n.74-105_74-104delinsTA) n.252-105_252-104delinsTA c.1757-105_1757-104delinsTA (n.1757-105_1757-104delinsTA) c.644-105_644-104delinsTA (n.644-105_644-104delinsTA) c.1739-105_1739-104delinsTA (n.1739-105_1739-104delinsTA) c.1454-105_1454-104delinsTA (n.1454-105_1454-104delinsTA) c.236-105_236-104delinsTA (n.236-105_236-104delinsTA) n.606-27_606-26delinsTA | |
17 | g.63488543_63488544insTTTTTTTTTG | CA2639263640 | ACE | c.2306-105_2306-104insTTTTTTTTTG (n.2306-105_2306-104insTTTTTTTTTG) c.584-105_584-104insTTTTTTTTTG (n.584-105_584-104insTTTTTTTTTG) c.*376-105_*376-104insTTTTTTTTTG (n.*376-105_*376-104insTTTTTTTTTG) c.487-27_487-26insTTTTTTTTTG (n.487-27_487-26insTTTTTTTTTG) c.584-27_584-26insTTTTTTTTTG (n.584-27_584-26insTTTTTTTTTG) c.*226-105_*226-104insTTTTTTTTTG (n.*226-105_*226-104insTTTTTTTTTG) c.74-105_74-104insTTTTTTTTTG (n.74-105_74-104insTTTTTTTTTG) n.252-105_252-104insTTTTTTTTTG c.1757-105_1757-104insTTTTTTTTTG (n.1757-105_1757-104insTTTTTTTTTG) c.644-105_644-104insTTTTTTTTTG (n.644-105_644-104insTTTTTTTTTG) c.1739-105_1739-104insTTTTTTTTTG (n.1739-105_1739-104insTTTTTTTTTG) c.1454-105_1454-104insTTTTTTTTTG (n.1454-105_1454-104insTTTTTTTTTG) c.236-105_236-104insTTTTTTTTTG (n.236-105_236-104insTTTTTTTTTG) n.606-27_606-26insTTTTTTTTTG | gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTG | CA985411416 | ACE | c.2306-105_2306-104insTTTTTTTTTTG (n.2306-105_2306-104insTTTTTTTTTTG) c.584-105_584-104insTTTTTTTTTTG (n.584-105_584-104insTTTTTTTTTTG) c.*376-105_*376-104insTTTTTTTTTTG (n.*376-105_*376-104insTTTTTTTTTTG) c.487-27_487-26insTTTTTTTTTTG (n.487-27_487-26insTTTTTTTTTTG) c.584-27_584-26insTTTTTTTTTTG (n.584-27_584-26insTTTTTTTTTTG) c.*226-105_*226-104insTTTTTTTTTTG (n.*226-105_*226-104insTTTTTTTTTTG) c.74-105_74-104insTTTTTTTTTTG (n.74-105_74-104insTTTTTTTTTTG) n.252-105_252-104insTTTTTTTTTTG c.1757-105_1757-104insTTTTTTTTTTG (n.1757-105_1757-104insTTTTTTTTTTG) c.644-105_644-104insTTTTTTTTTTG (n.644-105_644-104insTTTTTTTTTTG) c.1739-105_1739-104insTTTTTTTTTTG (n.1739-105_1739-104insTTTTTTTTTTG) c.1454-105_1454-104insTTTTTTTTTTG (n.1454-105_1454-104insTTTTTTTTTTG) c.236-105_236-104insTTTTTTTTTTG (n.236-105_236-104insTTTTTTTTTTG) n.606-27_606-26insTTTTTTTTTTG | gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTCTTTTTG | CA2810114461 | ACE | c.2306-105_2306-104insTTTTTCTTTTTG (n.2306-105_2306-104insTTTTTCTTTTTG) c.584-105_584-104insTTTTTCTTTTTG (n.584-105_584-104insTTTTTCTTTTTG) c.*376-105_*376-104insTTTTTCTTTTTG (n.*376-105_*376-104insTTTTTCTTTTTG) c.487-27_487-26insTTTTTCTTTTTG (n.487-27_487-26insTTTTTCTTTTTG) c.584-27_584-26insTTTTTCTTTTTG (n.584-27_584-26insTTTTTCTTTTTG) c.*226-105_*226-104insTTTTTCTTTTTG (n.*226-105_*226-104insTTTTTCTTTTTG) c.74-105_74-104insTTTTTCTTTTTG (n.74-105_74-104insTTTTTCTTTTTG) n.252-105_252-104insTTTTTCTTTTTG c.1757-105_1757-104insTTTTTCTTTTTG (n.1757-105_1757-104insTTTTTCTTTTTG) c.644-105_644-104insTTTTTCTTTTTG (n.644-105_644-104insTTTTTCTTTTTG) c.1739-105_1739-104insTTTTTCTTTTTG (n.1739-105_1739-104insTTTTTCTTTTTG) c.1454-105_1454-104insTTTTTCTTTTTG (n.1454-105_1454-104insTTTTTCTTTTTG) c.236-105_236-104insTTTTTCTTTTTG (n.236-105_236-104insTTTTTCTTTTTG) n.606-27_606-26insTTTTTCTTTTTG | |
17 | g.63488543_63488544insTTTTTTTTTGAG | CA2639263641 | ACE | c.2306-105_2306-104insTTTTTTTTTGAG (n.2306-105_2306-104insTTTTTTTTTGAG) c.584-105_584-104insTTTTTTTTTGAG (n.584-105_584-104insTTTTTTTTTGAG) c.*376-105_*376-104insTTTTTTTTTGAG (n.*376-105_*376-104insTTTTTTTTTGAG) c.487-27_487-26insTTTTTTTTTGAG (n.487-27_487-26insTTTTTTTTTGAG) c.584-27_584-26insTTTTTTTTTGAG (n.584-27_584-26insTTTTTTTTTGAG) c.*226-105_*226-104insTTTTTTTTTGAG (n.*226-105_*226-104insTTTTTTTTTGAG) c.74-105_74-104insTTTTTTTTTGAG (n.74-105_74-104insTTTTTTTTTGAG) n.252-105_252-104insTTTTTTTTTGAG c.1757-105_1757-104insTTTTTTTTTGAG (n.1757-105_1757-104insTTTTTTTTTGAG) c.644-105_644-104insTTTTTTTTTGAG (n.644-105_644-104insTTTTTTTTTGAG) c.1739-105_1739-104insTTTTTTTTTGAG (n.1739-105_1739-104insTTTTTTTTTGAG) c.1454-105_1454-104insTTTTTTTTTGAG (n.1454-105_1454-104insTTTTTTTTTGAG) c.236-105_236-104insTTTTTTTTTGAG (n.236-105_236-104insTTTTTTTTTGAG) n.606-27_606-26insTTTTTTTTTGAG | gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTG | CA627148129 | ACE | c.2306-105_2306-104insTTTTTTTTTTTG (n.2306-105_2306-104insTTTTTTTTTTTG) c.584-105_584-104insTTTTTTTTTTTG (n.584-105_584-104insTTTTTTTTTTTG) c.*376-105_*376-104insTTTTTTTTTTTG (n.*376-105_*376-104insTTTTTTTTTTTG) c.487-27_487-26insTTTTTTTTTTTG (n.487-27_487-26insTTTTTTTTTTTG) c.584-27_584-26insTTTTTTTTTTTG (n.584-27_584-26insTTTTTTTTTTTG) c.*226-105_*226-104insTTTTTTTTTTTG (n.*226-105_*226-104insTTTTTTTTTTTG) c.74-105_74-104insTTTTTTTTTTTG (n.74-105_74-104insTTTTTTTTTTTG) n.252-105_252-104insTTTTTTTTTTTG c.1757-105_1757-104insTTTTTTTTTTTG (n.1757-105_1757-104insTTTTTTTTTTTG) c.644-105_644-104insTTTTTTTTTTTG (n.644-105_644-104insTTTTTTTTTTTG) c.1739-105_1739-104insTTTTTTTTTTTG (n.1739-105_1739-104insTTTTTTTTTTTG) c.1454-105_1454-104insTTTTTTTTTTTG (n.1454-105_1454-104insTTTTTTTTTTTG) c.236-105_236-104insTTTTTTTTTTTG (n.236-105_236-104insTTTTTTTTTTTG) n.606-27_606-26insTTTTTTTTTTTG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTGAG | CA985411395 | ACE | c.2306-105_2306-104insTTTTTTTTTTGAG (n.2306-105_2306-104insTTTTTTTTTTGAG) c.584-105_584-104insTTTTTTTTTTGAG (n.584-105_584-104insTTTTTTTTTTGAG) c.*376-105_*376-104insTTTTTTTTTTGAG (n.*376-105_*376-104insTTTTTTTTTTGAG) c.487-27_487-26insTTTTTTTTTTGAG (n.487-27_487-26insTTTTTTTTTTGAG) c.584-27_584-26insTTTTTTTTTTGAG (n.584-27_584-26insTTTTTTTTTTGAG) c.*226-105_*226-104insTTTTTTTTTTGAG (n.*226-105_*226-104insTTTTTTTTTTGAG) c.74-105_74-104insTTTTTTTTTTGAG (n.74-105_74-104insTTTTTTTTTTGAG) n.252-105_252-104insTTTTTTTTTTGAG c.1757-105_1757-104insTTTTTTTTTTGAG (n.1757-105_1757-104insTTTTTTTTTTGAG) c.644-105_644-104insTTTTTTTTTTGAG (n.644-105_644-104insTTTTTTTTTTGAG) c.1739-105_1739-104insTTTTTTTTTTGAG (n.1739-105_1739-104insTTTTTTTTTTGAG) c.1454-105_1454-104insTTTTTTTTTTGAG (n.1454-105_1454-104insTTTTTTTTTTGAG) c.236-105_236-104insTTTTTTTTTTGAG (n.236-105_236-104insTTTTTTTTTTGAG) n.606-27_606-26insTTTTTTTTTTGAG | gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTAG | CA2639263643 | ACE | c.2306-105_2306-104insTTTTTTTTTTTAG (n.2306-105_2306-104insTTTTTTTTTTTAG) c.584-105_584-104insTTTTTTTTTTTAG (n.584-105_584-104insTTTTTTTTTTTAG) c.*376-105_*376-104insTTTTTTTTTTTAG (n.*376-105_*376-104insTTTTTTTTTTTAG) c.487-27_487-26insTTTTTTTTTTTAG (n.487-27_487-26insTTTTTTTTTTTAG) c.584-27_584-26insTTTTTTTTTTTAG (n.584-27_584-26insTTTTTTTTTTTAG) c.*226-105_*226-104insTTTTTTTTTTTAG (n.*226-105_*226-104insTTTTTTTTTTTAG) c.74-105_74-104insTTTTTTTTTTTAG (n.74-105_74-104insTTTTTTTTTTTAG) n.252-105_252-104insTTTTTTTTTTTAG c.1757-105_1757-104insTTTTTTTTTTTAG (n.1757-105_1757-104insTTTTTTTTTTTAG) c.644-105_644-104insTTTTTTTTTTTAG (n.644-105_644-104insTTTTTTTTTTTAG) c.1739-105_1739-104insTTTTTTTTTTTAG (n.1739-105_1739-104insTTTTTTTTTTTAG) c.1454-105_1454-104insTTTTTTTTTTTAG (n.1454-105_1454-104insTTTTTTTTTTTAG) c.236-105_236-104insTTTTTTTTTTTAG (n.236-105_236-104insTTTTTTTTTTTAG) n.606-27_606-26insTTTTTTTTTTTAG | gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTTG | CA627148128 | ACE | c.2306-105_2306-104insTTTTTTTTTTTTG (n.2306-105_2306-104insTTTTTTTTTTTTG) c.584-105_584-104insTTTTTTTTTTTTG (n.584-105_584-104insTTTTTTTTTTTTG) c.*376-105_*376-104insTTTTTTTTTTTTG (n.*376-105_*376-104insTTTTTTTTTTTTG) c.487-27_487-26insTTTTTTTTTTTTG (n.487-27_487-26insTTTTTTTTTTTTG) c.584-27_584-26insTTTTTTTTTTTTG (n.584-27_584-26insTTTTTTTTTTTTG) c.*226-105_*226-104insTTTTTTTTTTTTG (n.*226-105_*226-104insTTTTTTTTTTTTG) c.74-105_74-104insTTTTTTTTTTTTG (n.74-105_74-104insTTTTTTTTTTTTG) n.252-105_252-104insTTTTTTTTTTTTG c.1757-105_1757-104insTTTTTTTTTTTTG (n.1757-105_1757-104insTTTTTTTTTTTTG) c.644-105_644-104insTTTTTTTTTTTTG (n.644-105_644-104insTTTTTTTTTTTTG) c.1739-105_1739-104insTTTTTTTTTTTTG (n.1739-105_1739-104insTTTTTTTTTTTTG) c.1454-105_1454-104insTTTTTTTTTTTTG (n.1454-105_1454-104insTTTTTTTTTTTTG) c.236-105_236-104insTTTTTTTTTTTTG (n.236-105_236-104insTTTTTTTTTTTTG) n.606-27_606-26insTTTTTTTTTTTTG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTGAG | CA627148130 | ACE | c.2306-105_2306-104insTTTTTTTTTTTGAG (n.2306-105_2306-104insTTTTTTTTTTTGAG) c.584-105_584-104insTTTTTTTTTTTGAG (n.584-105_584-104insTTTTTTTTTTTGAG) c.*376-105_*376-104insTTTTTTTTTTTGAG (n.*376-105_*376-104insTTTTTTTTTTTGAG) c.487-27_487-26insTTTTTTTTTTTGAG (n.487-27_487-26insTTTTTTTTTTTGAG) c.584-27_584-26insTTTTTTTTTTTGAG (n.584-27_584-26insTTTTTTTTTTTGAG) c.*226-105_*226-104insTTTTTTTTTTTGAG (n.*226-105_*226-104insTTTTTTTTTTTGAG) c.74-105_74-104insTTTTTTTTTTTGAG (n.74-105_74-104insTTTTTTTTTTTGAG) n.252-105_252-104insTTTTTTTTTTTGAG c.1757-105_1757-104insTTTTTTTTTTTGAG (n.1757-105_1757-104insTTTTTTTTTTTGAG) c.644-105_644-104insTTTTTTTTTTTGAG (n.644-105_644-104insTTTTTTTTTTTGAG) c.1739-105_1739-104insTTTTTTTTTTTGAG (n.1739-105_1739-104insTTTTTTTTTTTGAG) c.1454-105_1454-104insTTTTTTTTTTTGAG (n.1454-105_1454-104insTTTTTTTTTTTGAG) c.236-105_236-104insTTTTTTTTTTTGAG (n.236-105_236-104insTTTTTTTTTTTGAG) n.606-27_606-26insTTTTTTTTTTTGAG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTTAG | CA2639263644 | ACE | c.2306-105_2306-104insTTTTTTTTTTTTAG (n.2306-105_2306-104insTTTTTTTTTTTTAG) c.584-105_584-104insTTTTTTTTTTTTAG (n.584-105_584-104insTTTTTTTTTTTTAG) c.*376-105_*376-104insTTTTTTTTTTTTAG (n.*376-105_*376-104insTTTTTTTTTTTTAG) c.487-27_487-26insTTTTTTTTTTTTAG (n.487-27_487-26insTTTTTTTTTTTTAG) c.584-27_584-26insTTTTTTTTTTTTAG (n.584-27_584-26insTTTTTTTTTTTTAG) c.*226-105_*226-104insTTTTTTTTTTTTAG (n.*226-105_*226-104insTTTTTTTTTTTTAG) c.74-105_74-104insTTTTTTTTTTTTAG (n.74-105_74-104insTTTTTTTTTTTTAG) n.252-105_252-104insTTTTTTTTTTTTAG c.1757-105_1757-104insTTTTTTTTTTTTAG (n.1757-105_1757-104insTTTTTTTTTTTTAG) c.644-105_644-104insTTTTTTTTTTTTAG (n.644-105_644-104insTTTTTTTTTTTTAG) c.1739-105_1739-104insTTTTTTTTTTTTAG (n.1739-105_1739-104insTTTTTTTTTTTTAG) c.1454-105_1454-104insTTTTTTTTTTTTAG (n.1454-105_1454-104insTTTTTTTTTTTTAG) c.236-105_236-104insTTTTTTTTTTTTAG (n.236-105_236-104insTTTTTTTTTTTTAG) n.606-27_606-26insTTTTTTTTTTTTAG | gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTTGA | CA2810114460 | ACE | c.2306-105_2306-104insTTTTTTTTTTTTGA (n.2306-105_2306-104insTTTTTTTTTTTTGA) c.584-105_584-104insTTTTTTTTTTTTGA (n.584-105_584-104insTTTTTTTTTTTTGA) c.*376-105_*376-104insTTTTTTTTTTTTGA (n.*376-105_*376-104insTTTTTTTTTTTTGA) c.487-27_487-26insTTTTTTTTTTTTGA (n.487-27_487-26insTTTTTTTTTTTTGA) c.584-27_584-26insTTTTTTTTTTTTGA (n.584-27_584-26insTTTTTTTTTTTTGA) c.*226-105_*226-104insTTTTTTTTTTTTGA (n.*226-105_*226-104insTTTTTTTTTTTTGA) c.74-105_74-104insTTTTTTTTTTTTGA (n.74-105_74-104insTTTTTTTTTTTTGA) n.252-105_252-104insTTTTTTTTTTTTGA c.1757-105_1757-104insTTTTTTTTTTTTGA (n.1757-105_1757-104insTTTTTTTTTTTTGA) c.644-105_644-104insTTTTTTTTTTTTGA (n.644-105_644-104insTTTTTTTTTTTTGA) c.1739-105_1739-104insTTTTTTTTTTTTGA (n.1739-105_1739-104insTTTTTTTTTTTTGA) c.1454-105_1454-104insTTTTTTTTTTTTGA (n.1454-105_1454-104insTTTTTTTTTTTTGA) c.236-105_236-104insTTTTTTTTTTTTGA (n.236-105_236-104insTTTTTTTTTTTTGA) n.606-27_606-26insTTTTTTTTTTTTGA | |
17 | g.63488543_63488544insTTTTTTTTTTTTTG | CA2639263638 | ACE | c.2306-105_2306-104insTTTTTTTTTTTTTG (n.2306-105_2306-104insTTTTTTTTTTTTTG) c.584-105_584-104insTTTTTTTTTTTTTG (n.584-105_584-104insTTTTTTTTTTTTTG) c.*376-105_*376-104insTTTTTTTTTTTTTG (n.*376-105_*376-104insTTTTTTTTTTTTTG) c.487-27_487-26insTTTTTTTTTTTTTG (n.487-27_487-26insTTTTTTTTTTTTTG) c.584-27_584-26insTTTTTTTTTTTTTG (n.584-27_584-26insTTTTTTTTTTTTTG) c.*226-105_*226-104insTTTTTTTTTTTTTG (n.*226-105_*226-104insTTTTTTTTTTTTTG) c.74-105_74-104insTTTTTTTTTTTTTG (n.74-105_74-104insTTTTTTTTTTTTTG) n.252-105_252-104insTTTTTTTTTTTTTG c.1757-105_1757-104insTTTTTTTTTTTTTG (n.1757-105_1757-104insTTTTTTTTTTTTTG) c.644-105_644-104insTTTTTTTTTTTTTG (n.644-105_644-104insTTTTTTTTTTTTTG) c.1739-105_1739-104insTTTTTTTTTTTTTG (n.1739-105_1739-104insTTTTTTTTTTTTTG) c.1454-105_1454-104insTTTTTTTTTTTTTG (n.1454-105_1454-104insTTTTTTTTTTTTTG) c.236-105_236-104insTTTTTTTTTTTTTG (n.236-105_236-104insTTTTTTTTTTTTTG) n.606-27_606-26insTTTTTTTTTTTTTG | gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTTGAG | CA985411400 | ACE | c.2306-105_2306-104insTTTTTTTTTTTTGAG (n.2306-105_2306-104insTTTTTTTTTTTTGAG) c.584-105_584-104insTTTTTTTTTTTTGAG (n.584-105_584-104insTTTTTTTTTTTTGAG) c.*376-105_*376-104insTTTTTTTTTTTTGAG (n.*376-105_*376-104insTTTTTTTTTTTTGAG) c.487-27_487-26insTTTTTTTTTTTTGAG (n.487-27_487-26insTTTTTTTTTTTTGAG) c.584-27_584-26insTTTTTTTTTTTTGAG (n.584-27_584-26insTTTTTTTTTTTTGAG) c.*226-105_*226-104insTTTTTTTTTTTTGAG (n.*226-105_*226-104insTTTTTTTTTTTTGAG) c.74-105_74-104insTTTTTTTTTTTTGAG (n.74-105_74-104insTTTTTTTTTTTTGAG) n.252-105_252-104insTTTTTTTTTTTTGAG c.1757-105_1757-104insTTTTTTTTTTTTGAG (n.1757-105_1757-104insTTTTTTTTTTTTGAG) c.644-105_644-104insTTTTTTTTTTTTGAG (n.644-105_644-104insTTTTTTTTTTTTGAG) c.1739-105_1739-104insTTTTTTTTTTTTGAG (n.1739-105_1739-104insTTTTTTTTTTTTGAG) c.1454-105_1454-104insTTTTTTTTTTTTGAG (n.1454-105_1454-104insTTTTTTTTTTTTGAG) c.236-105_236-104insTTTTTTTTTTTTGAG (n.236-105_236-104insTTTTTTTTTTTTGAG) n.606-27_606-26insTTTTTTTTTTTTGAG | gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTTTAG | CA2639263636 | ACE | c.2306-105_2306-104insTTTTTTTTTTTTTAG (n.2306-105_2306-104insTTTTTTTTTTTTTAG) c.584-105_584-104insTTTTTTTTTTTTTAG (n.584-105_584-104insTTTTTTTTTTTTTAG) c.*376-105_*376-104insTTTTTTTTTTTTTAG (n.*376-105_*376-104insTTTTTTTTTTTTTAG) c.487-27_487-26insTTTTTTTTTTTTTAG (n.487-27_487-26insTTTTTTTTTTTTTAG) c.584-27_584-26insTTTTTTTTTTTTTAG (n.584-27_584-26insTTTTTTTTTTTTTAG) c.*226-105_*226-104insTTTTTTTTTTTTTAG (n.*226-105_*226-104insTTTTTTTTTTTTTAG) c.74-105_74-104insTTTTTTTTTTTTTAG (n.74-105_74-104insTTTTTTTTTTTTTAG) n.252-105_252-104insTTTTTTTTTTTTTAG c.1757-105_1757-104insTTTTTTTTTTTTTAG (n.1757-105_1757-104insTTTTTTTTTTTTTAG) c.644-105_644-104insTTTTTTTTTTTTTAG (n.644-105_644-104insTTTTTTTTTTTTTAG) c.1739-105_1739-104insTTTTTTTTTTTTTAG (n.1739-105_1739-104insTTTTTTTTTTTTTAG) c.1454-105_1454-104insTTTTTTTTTTTTTAG (n.1454-105_1454-104insTTTTTTTTTTTTTAG) c.236-105_236-104insTTTTTTTTTTTTTAG (n.236-105_236-104insTTTTTTTTTTTTTAG) n.606-27_606-26insTTTTTTTTTTTTTAG | gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTTTGAG | CA2639263639 | ACE | c.2306-105_2306-104insTTTTTTTTTTTTTGAG (n.2306-105_2306-104insTTTTTTTTTTTTTGAG) c.584-105_584-104insTTTTTTTTTTTTTGAG (n.584-105_584-104insTTTTTTTTTTTTTGAG) c.*376-105_*376-104insTTTTTTTTTTTTTGAG (n.*376-105_*376-104insTTTTTTTTTTTTTGAG) c.487-27_487-26insTTTTTTTTTTTTTGAG (n.487-27_487-26insTTTTTTTTTTTTTGAG) c.584-27_584-26insTTTTTTTTTTTTTGAG (n.584-27_584-26insTTTTTTTTTTTTTGAG) c.*226-105_*226-104insTTTTTTTTTTTTTGAG (n.*226-105_*226-104insTTTTTTTTTTTTTGAG) c.74-105_74-104insTTTTTTTTTTTTTGAG (n.74-105_74-104insTTTTTTTTTTTTTGAG) n.252-105_252-104insTTTTTTTTTTTTTGAG c.1757-105_1757-104insTTTTTTTTTTTTTGAG (n.1757-105_1757-104insTTTTTTTTTTTTTGAG) c.644-105_644-104insTTTTTTTTTTTTTGAG (n.644-105_644-104insTTTTTTTTTTTTTGAG) c.1739-105_1739-104insTTTTTTTTTTTTTGAG (n.1739-105_1739-104insTTTTTTTTTTTTTGAG) c.1454-105_1454-104insTTTTTTTTTTTTTGAG (n.1454-105_1454-104insTTTTTTTTTTTTTGAG) c.236-105_236-104insTTTTTTTTTTTTTGAG (n.236-105_236-104insTTTTTTTTTTTTTGAG) n.606-27_606-26insTTTTTTTTTTTTTGAG | gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTGAGACGG | CA985411421 | ACE | c.2306-105_2306-104insTTTTTTTTTTGAGACGG (n.2306-105_2306-104insTTTTTTTTTTGAGACGG) c.584-105_584-104insTTTTTTTTTTGAGACGG (n.584-105_584-104insTTTTTTTTTTGAGACGG) c.*376-105_*376-104insTTTTTTTTTTGAGACGG (n.*376-105_*376-104insTTTTTTTTTTGAGACGG) c.487-27_487-26insTTTTTTTTTTGAGACGG (n.487-27_487-26insTTTTTTTTTTGAGACGG) c.584-27_584-26insTTTTTTTTTTGAGACGG (n.584-27_584-26insTTTTTTTTTTGAGACGG) c.*226-105_*226-104insTTTTTTTTTTGAGACGG (n.*226-105_*226-104insTTTTTTTTTTGAGACGG) c.74-105_74-104insTTTTTTTTTTGAGACGG (n.74-105_74-104insTTTTTTTTTTGAGACGG) n.252-105_252-104insTTTTTTTTTTGAGACGG c.1757-105_1757-104insTTTTTTTTTTGAGACGG (n.1757-105_1757-104insTTTTTTTTTTGAGACGG) c.644-105_644-104insTTTTTTTTTTGAGACGG (n.644-105_644-104insTTTTTTTTTTGAGACGG) c.1739-105_1739-104insTTTTTTTTTTGAGACGG (n.1739-105_1739-104insTTTTTTTTTTGAGACGG) c.1454-105_1454-104insTTTTTTTTTTGAGACGG (n.1454-105_1454-104insTTTTTTTTTTGAGACGG) c.236-105_236-104insTTTTTTTTTTGAGACGG (n.236-105_236-104insTTTTTTTTTTGAGACGG) n.606-27_606-26insTTTTTTTTTTGAGACGG | gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTAGACGG | CA2639263642 | ACE | c.2306-105_2306-104insTTTTTTTTTTTAGACGG (n.2306-105_2306-104insTTTTTTTTTTTAGACGG) c.584-105_584-104insTTTTTTTTTTTAGACGG (n.584-105_584-104insTTTTTTTTTTTAGACGG) c.*376-105_*376-104insTTTTTTTTTTTAGACGG (n.*376-105_*376-104insTTTTTTTTTTTAGACGG) c.487-27_487-26insTTTTTTTTTTTAGACGG (n.487-27_487-26insTTTTTTTTTTTAGACGG) c.584-27_584-26insTTTTTTTTTTTAGACGG (n.584-27_584-26insTTTTTTTTTTTAGACGG) c.*226-105_*226-104insTTTTTTTTTTTAGACGG (n.*226-105_*226-104insTTTTTTTTTTTAGACGG) c.74-105_74-104insTTTTTTTTTTTAGACGG (n.74-105_74-104insTTTTTTTTTTTAGACGG) n.252-105_252-104insTTTTTTTTTTTAGACGG c.1757-105_1757-104insTTTTTTTTTTTAGACGG (n.1757-105_1757-104insTTTTTTTTTTTAGACGG) c.644-105_644-104insTTTTTTTTTTTAGACGG (n.644-105_644-104insTTTTTTTTTTTAGACGG) c.1739-105_1739-104insTTTTTTTTTTTAGACGG (n.1739-105_1739-104insTTTTTTTTTTTAGACGG) c.1454-105_1454-104insTTTTTTTTTTTAGACGG (n.1454-105_1454-104insTTTTTTTTTTTAGACGG) c.236-105_236-104insTTTTTTTTTTTAGACGG (n.236-105_236-104insTTTTTTTTTTTAGACGG) n.606-27_606-26insTTTTTTTTTTTAGACGG | gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTGAGACGG | CA627148133 | ACE | c.2306-105_2306-104insTTTTTTTTTTTGAGACGG (n.2306-105_2306-104insTTTTTTTTTTTGAGACGG) c.584-105_584-104insTTTTTTTTTTTGAGACGG (n.584-105_584-104insTTTTTTTTTTTGAGACGG) c.*376-105_*376-104insTTTTTTTTTTTGAGACGG (n.*376-105_*376-104insTTTTTTTTTTTGAGACGG) c.487-27_487-26insTTTTTTTTTTTGAGACGG (n.487-27_487-26insTTTTTTTTTTTGAGACGG) c.584-27_584-26insTTTTTTTTTTTGAGACGG (n.584-27_584-26insTTTTTTTTTTTGAGACGG) c.*226-105_*226-104insTTTTTTTTTTTGAGACGG (n.*226-105_*226-104insTTTTTTTTTTTGAGACGG) c.74-105_74-104insTTTTTTTTTTTGAGACGG (n.74-105_74-104insTTTTTTTTTTTGAGACGG) n.252-105_252-104insTTTTTTTTTTTGAGACGG c.1757-105_1757-104insTTTTTTTTTTTGAGACGG (n.1757-105_1757-104insTTTTTTTTTTTGAGACGG) c.644-105_644-104insTTTTTTTTTTTGAGACGG (n.644-105_644-104insTTTTTTTTTTTGAGACGG) c.1739-105_1739-104insTTTTTTTTTTTGAGACGG (n.1739-105_1739-104insTTTTTTTTTTTGAGACGG) c.1454-105_1454-104insTTTTTTTTTTTGAGACGG (n.1454-105_1454-104insTTTTTTTTTTTGAGACGG) c.236-105_236-104insTTTTTTTTTTTGAGACGG (n.236-105_236-104insTTTTTTTTTTTGAGACGG) n.606-27_606-26insTTTTTTTTTTTGAGACGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTTAGACGG | CA2639263634 | ACE | c.2306-105_2306-104insTTTTTTTTTTTTAGACGG (n.2306-105_2306-104insTTTTTTTTTTTTAGACGG) c.584-105_584-104insTTTTTTTTTTTTAGACGG (n.584-105_584-104insTTTTTTTTTTTTAGACGG) c.*376-105_*376-104insTTTTTTTTTTTTAGACGG (n.*376-105_*376-104insTTTTTTTTTTTTAGACGG) c.487-27_487-26insTTTTTTTTTTTTAGACGG (n.487-27_487-26insTTTTTTTTTTTTAGACGG) c.584-27_584-26insTTTTTTTTTTTTAGACGG (n.584-27_584-26insTTTTTTTTTTTTAGACGG) c.*226-105_*226-104insTTTTTTTTTTTTAGACGG (n.*226-105_*226-104insTTTTTTTTTTTTAGACGG) c.74-105_74-104insTTTTTTTTTTTTAGACGG (n.74-105_74-104insTTTTTTTTTTTTAGACGG) n.252-105_252-104insTTTTTTTTTTTTAGACGG c.1757-105_1757-104insTTTTTTTTTTTTAGACGG (n.1757-105_1757-104insTTTTTTTTTTTTAGACGG) c.644-105_644-104insTTTTTTTTTTTTAGACGG (n.644-105_644-104insTTTTTTTTTTTTAGACGG) c.1739-105_1739-104insTTTTTTTTTTTTAGACGG (n.1739-105_1739-104insTTTTTTTTTTTTAGACGG) c.1454-105_1454-104insTTTTTTTTTTTTAGACGG (n.1454-105_1454-104insTTTTTTTTTTTTAGACGG) c.236-105_236-104insTTTTTTTTTTTTAGACGG (n.236-105_236-104insTTTTTTTTTTTTAGACGG) n.606-27_606-26insTTTTTTTTTTTTAGACGG | gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTTGAGACGG | CA985411399 | ACE | c.2306-105_2306-104insTTTTTTTTTTTTGAGACGG (n.2306-105_2306-104insTTTTTTTTTTTTGAGACGG) c.584-105_584-104insTTTTTTTTTTTTGAGACGG (n.584-105_584-104insTTTTTTTTTTTTGAGACGG) c.*376-105_*376-104insTTTTTTTTTTTTGAGACGG (n.*376-105_*376-104insTTTTTTTTTTTTGAGACGG) c.487-27_487-26insTTTTTTTTTTTTGAGACGG (n.487-27_487-26insTTTTTTTTTTTTGAGACGG) c.584-27_584-26insTTTTTTTTTTTTGAGACGG (n.584-27_584-26insTTTTTTTTTTTTGAGACGG) c.*226-105_*226-104insTTTTTTTTTTTTGAGACGG (n.*226-105_*226-104insTTTTTTTTTTTTGAGACGG) c.74-105_74-104insTTTTTTTTTTTTGAGACGG (n.74-105_74-104insTTTTTTTTTTTTGAGACGG) n.252-105_252-104insTTTTTTTTTTTTGAGACGG c.1757-105_1757-104insTTTTTTTTTTTTGAGACGG (n.1757-105_1757-104insTTTTTTTTTTTTGAGACGG) c.644-105_644-104insTTTTTTTTTTTTGAGACGG (n.644-105_644-104insTTTTTTTTTTTTGAGACGG) c.1739-105_1739-104insTTTTTTTTTTTTGAGACGG (n.1739-105_1739-104insTTTTTTTTTTTTGAGACGG) c.1454-105_1454-104insTTTTTTTTTTTTGAGACGG (n.1454-105_1454-104insTTTTTTTTTTTTGAGACGG) c.236-105_236-104insTTTTTTTTTTTTGAGACGG (n.236-105_236-104insTTTTTTTTTTTTGAGACGG) n.606-27_606-26insTTTTTTTTTTTTGAGACGG | gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTTTAGACGG | CA2639263637 | ACE | c.2306-105_2306-104insTTTTTTTTTTTTTAGACGG (n.2306-105_2306-104insTTTTTTTTTTTTTAGACGG) c.584-105_584-104insTTTTTTTTTTTTTAGACGG (n.584-105_584-104insTTTTTTTTTTTTTAGACGG) c.*376-105_*376-104insTTTTTTTTTTTTTAGACGG (n.*376-105_*376-104insTTTTTTTTTTTTTAGACGG) c.487-27_487-26insTTTTTTTTTTTTTAGACGG (n.487-27_487-26insTTTTTTTTTTTTTAGACGG) c.584-27_584-26insTTTTTTTTTTTTTAGACGG (n.584-27_584-26insTTTTTTTTTTTTTAGACGG) c.*226-105_*226-104insTTTTTTTTTTTTTAGACGG (n.*226-105_*226-104insTTTTTTTTTTTTTAGACGG) c.74-105_74-104insTTTTTTTTTTTTTAGACGG (n.74-105_74-104insTTTTTTTTTTTTTAGACGG) n.252-105_252-104insTTTTTTTTTTTTTAGACGG c.1757-105_1757-104insTTTTTTTTTTTTTAGACGG (n.1757-105_1757-104insTTTTTTTTTTTTTAGACGG) c.644-105_644-104insTTTTTTTTTTTTTAGACGG (n.644-105_644-104insTTTTTTTTTTTTTAGACGG) c.1739-105_1739-104insTTTTTTTTTTTTTAGACGG (n.1739-105_1739-104insTTTTTTTTTTTTTAGACGG) c.1454-105_1454-104insTTTTTTTTTTTTTAGACGG (n.1454-105_1454-104insTTTTTTTTTTTTTAGACGG) c.236-105_236-104insTTTTTTTTTTTTTAGACGG (n.236-105_236-104insTTTTTTTTTTTTTAGACGG) n.606-27_606-26insTTTTTTTTTTTTTAGACGG | gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG | CA985411423 | ACE | c.2306-105_2306-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.2306-105_2306-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.584-105_584-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.584-105_584-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.*376-105_*376-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.*376-105_*376-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.487-27_487-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.487-27_487-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.584-27_584-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.584-27_584-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.*226-105_*226-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.*226-105_*226-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.74-105_74-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.74-105_74-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) n.252-105_252-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG c.1757-105_1757-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.1757-105_1757-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.644-105_644-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.644-105_644-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.1739-105_1739-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.1739-105_1739-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.1454-105_1454-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.1454-105_1454-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.236-105_236-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.236-105_236-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) n.606-27_606-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG | CA985411411 | ACE | c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) n.252-105_252-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG c.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) n.606-27_606-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG | CA985411430 | ACE | c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG (n.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG) c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG (n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG) c.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG (n.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG) c.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG (n.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG) c.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG (n.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG) c.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG (n.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG) c.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG (n.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG) n.252-105_252-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG c.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG (n.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG) c.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG (n.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG) c.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG (n.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG) c.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG (n.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG) c.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG (n.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG) n.606-27_606-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG | gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG | CA2639263635 | ACE | c.2306-105_2306-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.2306-105_2306-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.584-105_584-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.584-105_584-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.*376-105_*376-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.*376-105_*376-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.487-27_487-26insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.487-27_487-26insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.584-27_584-26insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.584-27_584-26insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.*226-105_*226-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.*226-105_*226-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.74-105_74-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.74-105_74-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) n.252-105_252-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG c.1757-105_1757-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.1757-105_1757-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.644-105_644-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.644-105_644-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.1739-105_1739-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.1739-105_1739-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.1454-105_1454-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.1454-105_1454-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) c.236-105_236-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG (n.236-105_236-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG) n.606-27_606-26insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG | gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC | CA985411424 | ACE | c.2306-105_2306-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.2306-105_2306-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.584-105_584-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.584-105_584-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.*376-105_*376-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.*376-105_*376-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.487-27_487-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.487-27_487-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.584-27_584-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.584-27_584-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.*226-105_*226-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.*226-105_*226-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.74-105_74-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.74-105_74-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) n.252-105_252-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC c.1757-105_1757-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.1757-105_1757-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.644-105_644-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.644-105_644-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.1739-105_1739-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.1739-105_1739-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.1454-105_1454-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.1454-105_1454-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.236-105_236-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.236-105_236-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) n.606-27_606-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC | gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC | CA627148132 | ACE | c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) n.252-105_252-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC c.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) n.606-27_606-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC | CA2570486721 | ACE | c.2306-105_2306-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.2306-105_2306-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.584-105_584-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.584-105_584-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.*376-105_*376-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.*376-105_*376-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.487-27_487-26insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.487-27_487-26insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.584-27_584-26insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.584-27_584-26insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.*226-105_*226-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.*226-105_*226-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.74-105_74-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.74-105_74-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) n.252-105_252-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC c.1757-105_1757-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.1757-105_1757-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.644-105_644-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.644-105_644-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.1739-105_1739-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.1739-105_1739-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.1454-105_1454-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.1454-105_1454-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) c.236-105_236-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC (n.236-105_236-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC) n.606-27_606-26insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC | |
17 | g.63488543_63488544insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG | CA985411427 | ACE | c.2306-105_2306-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.2306-105_2306-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.584-105_584-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.584-105_584-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.*376-105_*376-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.*376-105_*376-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.487-27_487-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.487-27_487-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.584-27_584-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.584-27_584-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.*226-105_*226-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.*226-105_*226-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.74-105_74-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.74-105_74-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) n.252-105_252-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG c.1757-105_1757-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.1757-105_1757-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.644-105_644-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.644-105_644-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.1739-105_1739-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.1739-105_1739-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.1454-105_1454-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.1454-105_1454-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.236-105_236-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.236-105_236-104insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) n.606-27_606-26insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG | gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG | CA627148131 | ACE | c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) n.252-105_252-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG c.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) n.606-27_606-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG | CA985411398 | ACE | c.2306-105_2306-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.2306-105_2306-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.584-105_584-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.584-105_584-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.*376-105_*376-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.*376-105_*376-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.487-27_487-26insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.487-27_487-26insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.584-27_584-26insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.584-27_584-26insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.*226-105_*226-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.*226-105_*226-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.74-105_74-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.74-105_74-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) n.252-105_252-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG c.1757-105_1757-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.1757-105_1757-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.644-105_644-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.644-105_644-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.1739-105_1739-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.1739-105_1739-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.1454-105_1454-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.1454-105_1454-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) c.236-105_236-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG (n.236-105_236-104insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG) n.606-27_606-26insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG | gnomAD v3 gnomAD v4 |
17 | g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC | CA985411401 | ACE | c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC (n.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC) c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC (n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC) c.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC (n.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC) c.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC (n.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC) c.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC (n.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC) c.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC (n.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC) c.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC (n.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC) n.252-105_252-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC c.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC (n.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC) c.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC (n.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC) c.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC (n.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC) c.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC (n.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC) c.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC (n.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC) n.606-27_606-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC | gnomAD v3 gnomAD v4 |
17 | g.63488544del | CA8700023 | ACE | c.2306-104del (n.2306-104del) c.584-104del (n.584-104del) c.*376-104del (n.*376-104del) c.487-26del (n.487-26del) c.584-26del (n.584-26del) c.*226-104del (n.*226-104del) c.74-104del (n.74-104del) n.252-104del c.1757-104del (n.1757-104del) c.644-104del (n.644-104del) c.1739-104del (n.1739-104del) c.1454-104del (n.1454-104del) c.236-104del (n.236-104del) n.606-26del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488544A= | CA2269945851 | ACE | c.2306-104A= (n.2306-104A=) c.584-104A= (n.584-104A=) c.*376-104A= (n.*376-104A=) c.487-26A= (n.487-26A=) c.584-26A= (n.584-26A=) c.*226-104A= (n.*226-104A=) c.74-104A= (n.74-104A=) n.252-104A= c.1757-104A= (n.1757-104A=) c.644-104A= (n.644-104A=) c.1739-104A= (n.1739-104A=) c.1454-104A= (n.1454-104A=) c.236-104A= (n.236-104A=) n.606-26A= | |
17 | g.63488544A>C | CA2269945852 | ACE | c.2306-104A>C (n.2306-104A>C) c.584-104A>C (n.584-104A>C) c.*376-104A>C (n.*376-104A>C) c.487-26A>C (n.487-26A>C) c.584-26A>C (n.584-26A>C) c.*226-104A>C (n.*226-104A>C) c.74-104A>C (n.74-104A>C) n.252-104A>C c.1757-104A>C (n.1757-104A>C) c.644-104A>C (n.644-104A>C) c.1739-104A>C (n.1739-104A>C) c.1454-104A>C (n.1454-104A>C) c.236-104A>C (n.236-104A>C) n.606-26A>C | dbSNP |
17 | g.63488544A>G | CA627148127 | ACE | c.2306-104A>G (n.2306-104A>G) c.584-104A>G (n.584-104A>G) c.*376-104A>G (n.*376-104A>G) c.487-26A>G (n.487-26A>G) c.584-26A>G (n.584-26A>G) c.*226-104A>G (n.*226-104A>G) c.74-104A>G (n.74-104A>G) n.252-104A>G c.1757-104A>G (n.1757-104A>G) c.644-104A>G (n.644-104A>G) c.1739-104A>G (n.1739-104A>G) c.1454-104A>G (n.1454-104A>G) c.236-104A>G (n.236-104A>G) n.606-26A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488544A>T | CA627148126 | ACE | c.2306-104A>T (n.2306-104A>T) c.584-104A>T (n.584-104A>T) c.*376-104A>T (n.*376-104A>T) c.487-26A>T (n.487-26A>T) c.584-26A>T (n.584-26A>T) c.*226-104A>T (n.*226-104A>T) c.74-104A>T (n.74-104A>T) n.252-104A>T c.1757-104A>T (n.1757-104A>T) c.644-104A>T (n.644-104A>T) c.1739-104A>T (n.1739-104A>T) c.1454-104A>T (n.1454-104A>T) c.236-104A>T (n.236-104A>T) n.606-26A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488544_63488549del | CA627148125 | ACE | c.2306-104_2306-99del (n.2306-104_2306-99del) c.584-104_584-99del (n.584-104_584-99del) c.*376-104_*376-99del (n.*376-104_*376-99del) c.487-26_487-21del (n.487-26_487-21del) c.584-26_584-21del (n.584-26_584-21del) c.*226-104_*226-99del (n.*226-104_*226-99del) c.74-104_74-99del (n.74-104_74-99del) n.252-104_252-99del c.1757-104_1757-99del (n.1757-104_1757-99del) c.644-104_644-99del (n.644-104_644-99del) c.1739-104_1739-99del (n.1739-104_1739-99del) c.1454-104_1454-99del (n.1454-104_1454-99del) c.236-104_236-99del (n.236-104_236-99del) n.606-26_606-21del | gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488544_63488545insGACGGAGTCTCGCTC | CA627148134 | ACE | c.2306-104_2306-103insGACGGAGTCTCGCTC (n.2306-104_2306-103insGACGGAGTCTCGCTC) c.584-104_584-103insGACGGAGTCTCGCTC (n.584-104_584-103insGACGGAGTCTCGCTC) c.*376-104_*376-103insGACGGAGTCTCGCTC (n.*376-104_*376-103insGACGGAGTCTCGCTC) c.487-26_487-25insGACGGAGTCTCGCTC (n.487-26_487-25insGACGGAGTCTCGCTC) c.584-26_584-25insGACGGAGTCTCGCTC (n.584-26_584-25insGACGGAGTCTCGCTC) c.*226-104_*226-103insGACGGAGTCTCGCTC (n.*226-104_*226-103insGACGGAGTCTCGCTC) c.74-104_74-103insGACGGAGTCTCGCTC (n.74-104_74-103insGACGGAGTCTCGCTC) n.252-104_252-103insGACGGAGTCTCGCTC c.1757-104_1757-103insGACGGAGTCTCGCTC (n.1757-104_1757-103insGACGGAGTCTCGCTC) c.644-104_644-103insGACGGAGTCTCGCTC (n.644-104_644-103insGACGGAGTCTCGCTC) c.1739-104_1739-103insGACGGAGTCTCGCTC (n.1739-104_1739-103insGACGGAGTCTCGCTC) c.1454-104_1454-103insGACGGAGTCTCGCTC (n.1454-104_1454-103insGACGGAGTCTCGCTC) c.236-104_236-103insGACGGAGTCTCGCTC (n.236-104_236-103insGACGGAGTCTCGCTC) n.606-26_606-25insGACGGAGTCTCGCTC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488545T>A | CA2639263645 | ACE | c.2306-103T>A (n.2306-103T>A) c.584-103T>A (n.584-103T>A) c.*376-103T>A (n.*376-103T>A) c.487-25T>A (n.487-25T>A) c.584-25T>A (n.584-25T>A) c.*226-103T>A (n.*226-103T>A) c.74-103T>A (n.74-103T>A) n.252-103T>A c.1757-103T>A (n.1757-103T>A) c.644-103T>A (n.644-103T>A) c.1739-103T>A (n.1739-103T>A) c.1454-103T>A (n.1454-103T>A) c.236-103T>A (n.236-103T>A) n.606-25T>A | gnomAD v4 |
17 | g.63488545T>C | CA985411438 | ACE | c.2306-103T>C (n.2306-103T>C) c.584-103T>C (n.584-103T>C) c.*376-103T>C (n.*376-103T>C) c.487-25T>C (n.487-25T>C) c.584-25T>C (n.584-25T>C) c.*226-103T>C (n.*226-103T>C) c.74-103T>C (n.74-103T>C) n.252-103T>C c.1757-103T>C (n.1757-103T>C) c.644-103T>C (n.644-103T>C) c.1739-103T>C (n.1739-103T>C) c.1454-103T>C (n.1454-103T>C) c.236-103T>C (n.236-103T>C) n.606-25T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488545T>G | CA2639263646 | ACE | c.2306-103T>G (n.2306-103T>G) c.584-103T>G (n.584-103T>G) c.*376-103T>G (n.*376-103T>G) c.487-25T>G (n.487-25T>G) c.584-25T>G (n.584-25T>G) c.*226-103T>G (n.*226-103T>G) c.74-103T>G (n.74-103T>G) n.252-103T>G c.1757-103T>G (n.1757-103T>G) c.644-103T>G (n.644-103T>G) c.1739-103T>G (n.1739-103T>G) c.1454-103T>G (n.1454-103T>G) c.236-103T>G (n.236-103T>G) n.606-25T>G | gnomAD v4 |
17 | g.63488545T= | CA2269945854 | ACE | c.2306-103T= (n.2306-103T=) c.584-103T= (n.584-103T=) c.*376-103T= (n.*376-103T=) c.487-25T= (n.487-25T=) c.584-25T= (n.584-25T=) c.*226-103T= (n.*226-103T=) c.74-103T= (n.74-103T=) n.252-103T= c.1757-103T= (n.1757-103T=) c.644-103T= (n.644-103T=) c.1739-103T= (n.1739-103T=) c.1454-103T= (n.1454-103T=) c.236-103T= (n.236-103T=) n.606-25T= | |
17 | g.63488545_63488549delinsTGTGG | CA2269945853 | ACE | c.2306-103_2306-99delinsTGTGG (n.2306-103_2306-99delinsTGTGG) c.584-103_584-99delinsTGTGG (n.584-103_584-99delinsTGTGG) c.*376-103_*376-99delinsTGTGG (n.*376-103_*376-99delinsTGTGG) c.487-25_487-21delinsTGTGG (n.487-25_487-21delinsTGTGG) c.584-25_584-21delinsTGTGG (n.584-25_584-21delinsTGTGG) c.*226-103_*226-99delinsTGTGG (n.*226-103_*226-99delinsTGTGG) c.74-103_74-99delinsTGTGG (n.74-103_74-99delinsTGTGG) n.252-103_252-99delinsTGTGG c.1757-103_1757-99delinsTGTGG (n.1757-103_1757-99delinsTGTGG) c.644-103_644-99delinsTGTGG (n.644-103_644-99delinsTGTGG) c.1739-103_1739-99delinsTGTGG (n.1739-103_1739-99delinsTGTGG) c.1454-103_1454-99delinsTGTGG (n.1454-103_1454-99delinsTGTGG) c.236-103_236-99delinsTGTGG (n.236-103_236-99delinsTGTGG) n.606-25_606-21delinsTGTGG | |
17 | g.63488545_63488546insACGGA | CA2810114473 | ACE | c.2306-103_2306-102insACGGA (n.2306-103_2306-102insACGGA) c.584-103_584-102insACGGA (n.584-103_584-102insACGGA) c.*376-103_*376-102insACGGA (n.*376-103_*376-102insACGGA) c.487-25_487-24insACGGA (n.487-25_487-24insACGGA) c.584-25_584-24insACGGA (n.584-25_584-24insACGGA) c.*226-103_*226-102insACGGA (n.*226-103_*226-102insACGGA) c.74-103_74-102insACGGA (n.74-103_74-102insACGGA) n.252-103_252-102insACGGA c.1757-103_1757-102insACGGA (n.1757-103_1757-102insACGGA) c.644-103_644-102insACGGA (n.644-103_644-102insACGGA) c.1739-103_1739-102insACGGA (n.1739-103_1739-102insACGGA) c.1454-103_1454-102insACGGA (n.1454-103_1454-102insACGGA) c.236-103_236-102insACGGA (n.236-103_236-102insACGGA) n.606-25_606-24insACGGA | |
17 | g.63488545_63488546insTTTTTTTTGAGACGGA | CA985411448 | ACE | c.2306-103_2306-102insTTTTTTTTGAGACGGA (n.2306-103_2306-102insTTTTTTTTGAGACGGA) c.584-103_584-102insTTTTTTTTGAGACGGA (n.584-103_584-102insTTTTTTTTGAGACGGA) c.*376-103_*376-102insTTTTTTTTGAGACGGA (n.*376-103_*376-102insTTTTTTTTGAGACGGA) c.487-25_487-24insTTTTTTTTGAGACGGA (n.487-25_487-24insTTTTTTTTGAGACGGA) c.584-25_584-24insTTTTTTTTGAGACGGA (n.584-25_584-24insTTTTTTTTGAGACGGA) c.*226-103_*226-102insTTTTTTTTGAGACGGA (n.*226-103_*226-102insTTTTTTTTGAGACGGA) c.74-103_74-102insTTTTTTTTGAGACGGA (n.74-103_74-102insTTTTTTTTGAGACGGA) n.252-103_252-102insTTTTTTTTGAGACGGA c.1757-103_1757-102insTTTTTTTTGAGACGGA (n.1757-103_1757-102insTTTTTTTTGAGACGGA) c.644-103_644-102insTTTTTTTTGAGACGGA (n.644-103_644-102insTTTTTTTTGAGACGGA) c.1739-103_1739-102insTTTTTTTTGAGACGGA (n.1739-103_1739-102insTTTTTTTTGAGACGGA) c.1454-103_1454-102insTTTTTTTTGAGACGGA (n.1454-103_1454-102insTTTTTTTTGAGACGGA) c.236-103_236-102insTTTTTTTTGAGACGGA (n.236-103_236-102insTTTTTTTTGAGACGGA) n.606-25_606-24insTTTTTTTTGAGACGGA | gnomAD v3 gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTGTGACGGA | CA2639263652 | ACE | c.2306-103_2306-102insTTTTTTTTGTGACGGA (n.2306-103_2306-102insTTTTTTTTGTGACGGA) c.584-103_584-102insTTTTTTTTGTGACGGA (n.584-103_584-102insTTTTTTTTGTGACGGA) c.*376-103_*376-102insTTTTTTTTGTGACGGA (n.*376-103_*376-102insTTTTTTTTGTGACGGA) c.487-25_487-24insTTTTTTTTGTGACGGA (n.487-25_487-24insTTTTTTTTGTGACGGA) c.584-25_584-24insTTTTTTTTGTGACGGA (n.584-25_584-24insTTTTTTTTGTGACGGA) c.*226-103_*226-102insTTTTTTTTGTGACGGA (n.*226-103_*226-102insTTTTTTTTGTGACGGA) c.74-103_74-102insTTTTTTTTGTGACGGA (n.74-103_74-102insTTTTTTTTGTGACGGA) n.252-103_252-102insTTTTTTTTGTGACGGA c.1757-103_1757-102insTTTTTTTTGTGACGGA (n.1757-103_1757-102insTTTTTTTTGTGACGGA) c.644-103_644-102insTTTTTTTTGTGACGGA (n.644-103_644-102insTTTTTTTTGTGACGGA) c.1739-103_1739-102insTTTTTTTTGTGACGGA (n.1739-103_1739-102insTTTTTTTTGTGACGGA) c.1454-103_1454-102insTTTTTTTTGTGACGGA (n.1454-103_1454-102insTTTTTTTTGTGACGGA) c.236-103_236-102insTTTTTTTTGTGACGGA (n.236-103_236-102insTTTTTTTTGTGACGGA) n.606-25_606-24insTTTTTTTTGTGACGGA | gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTTTTAGACG | CA2639263647 | ACE | c.2306-103_2306-102insTTTTTTTTTTTAGACG (n.2306-103_2306-102insTTTTTTTTTTTAGACG) c.584-103_584-102insTTTTTTTTTTTAGACG (n.584-103_584-102insTTTTTTTTTTTAGACG) c.*376-103_*376-102insTTTTTTTTTTTAGACG (n.*376-103_*376-102insTTTTTTTTTTTAGACG) c.487-25_487-24insTTTTTTTTTTTAGACG (n.487-25_487-24insTTTTTTTTTTTAGACG) c.584-25_584-24insTTTTTTTTTTTAGACG (n.584-25_584-24insTTTTTTTTTTTAGACG) c.*226-103_*226-102insTTTTTTTTTTTAGACG (n.*226-103_*226-102insTTTTTTTTTTTAGACG) c.74-103_74-102insTTTTTTTTTTTAGACG (n.74-103_74-102insTTTTTTTTTTTAGACG) n.252-103_252-102insTTTTTTTTTTTAGACG c.1757-103_1757-102insTTTTTTTTTTTAGACG (n.1757-103_1757-102insTTTTTTTTTTTAGACG) c.644-103_644-102insTTTTTTTTTTTAGACG (n.644-103_644-102insTTTTTTTTTTTAGACG) c.1739-103_1739-102insTTTTTTTTTTTAGACG (n.1739-103_1739-102insTTTTTTTTTTTAGACG) c.1454-103_1454-102insTTTTTTTTTTTAGACG (n.1454-103_1454-102insTTTTTTTTTTTAGACG) c.236-103_236-102insTTTTTTTTTTTAGACG (n.236-103_236-102insTTTTTTTTTTTAGACG) n.606-25_606-24insTTTTTTTTTTTAGACG | gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTTTAGACGGA | CA2639263653 | ACE | c.2306-103_2306-102insTTTTTTTTTTAGACGGA (n.2306-103_2306-102insTTTTTTTTTTAGACGGA) c.584-103_584-102insTTTTTTTTTTAGACGGA (n.584-103_584-102insTTTTTTTTTTAGACGGA) c.*376-103_*376-102insTTTTTTTTTTAGACGGA (n.*376-103_*376-102insTTTTTTTTTTAGACGGA) c.487-25_487-24insTTTTTTTTTTAGACGGA (n.487-25_487-24insTTTTTTTTTTAGACGGA) c.584-25_584-24insTTTTTTTTTTAGACGGA (n.584-25_584-24insTTTTTTTTTTAGACGGA) c.*226-103_*226-102insTTTTTTTTTTAGACGGA (n.*226-103_*226-102insTTTTTTTTTTAGACGGA) c.74-103_74-102insTTTTTTTTTTAGACGGA (n.74-103_74-102insTTTTTTTTTTAGACGGA) n.252-103_252-102insTTTTTTTTTTAGACGGA c.1757-103_1757-102insTTTTTTTTTTAGACGGA (n.1757-103_1757-102insTTTTTTTTTTAGACGGA) c.644-103_644-102insTTTTTTTTTTAGACGGA (n.644-103_644-102insTTTTTTTTTTAGACGGA) c.1739-103_1739-102insTTTTTTTTTTAGACGGA (n.1739-103_1739-102insTTTTTTTTTTAGACGGA) c.1454-103_1454-102insTTTTTTTTTTAGACGGA (n.1454-103_1454-102insTTTTTTTTTTAGACGGA) c.236-103_236-102insTTTTTTTTTTAGACGGA (n.236-103_236-102insTTTTTTTTTTAGACGGA) n.606-25_606-24insTTTTTTTTTTAGACGGA | gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTTGAGACGGA | CA627148138 | ACE | c.2306-103_2306-102insTTTTTTTTTGAGACGGA (n.2306-103_2306-102insTTTTTTTTTGAGACGGA) c.584-103_584-102insTTTTTTTTTGAGACGGA (n.584-103_584-102insTTTTTTTTTGAGACGGA) c.*376-103_*376-102insTTTTTTTTTGAGACGGA (n.*376-103_*376-102insTTTTTTTTTGAGACGGA) c.487-25_487-24insTTTTTTTTTGAGACGGA (n.487-25_487-24insTTTTTTTTTGAGACGGA) c.584-25_584-24insTTTTTTTTTGAGACGGA (n.584-25_584-24insTTTTTTTTTGAGACGGA) c.*226-103_*226-102insTTTTTTTTTGAGACGGA (n.*226-103_*226-102insTTTTTTTTTGAGACGGA) c.74-103_74-102insTTTTTTTTTGAGACGGA (n.74-103_74-102insTTTTTTTTTGAGACGGA) n.252-103_252-102insTTTTTTTTTGAGACGGA c.1757-103_1757-102insTTTTTTTTTGAGACGGA (n.1757-103_1757-102insTTTTTTTTTGAGACGGA) c.644-103_644-102insTTTTTTTTTGAGACGGA (n.644-103_644-102insTTTTTTTTTGAGACGGA) c.1739-103_1739-102insTTTTTTTTTGAGACGGA (n.1739-103_1739-102insTTTTTTTTTGAGACGGA) c.1454-103_1454-102insTTTTTTTTTGAGACGGA (n.1454-103_1454-102insTTTTTTTTTGAGACGGA) c.236-103_236-102insTTTTTTTTTGAGACGGA (n.236-103_236-102insTTTTTTTTTGAGACGGA) n.606-25_606-24insTTTTTTTTTGAGACGGA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTTTTAGACGGA | CA2639263648 | ACE | c.2306-103_2306-102insTTTTTTTTTTTAGACGGA (n.2306-103_2306-102insTTTTTTTTTTTAGACGGA) c.584-103_584-102insTTTTTTTTTTTAGACGGA (n.584-103_584-102insTTTTTTTTTTTAGACGGA) c.*376-103_*376-102insTTTTTTTTTTTAGACGGA (n.*376-103_*376-102insTTTTTTTTTTTAGACGGA) c.487-25_487-24insTTTTTTTTTTTAGACGGA (n.487-25_487-24insTTTTTTTTTTTAGACGGA) c.584-25_584-24insTTTTTTTTTTTAGACGGA (n.584-25_584-24insTTTTTTTTTTTAGACGGA) c.*226-103_*226-102insTTTTTTTTTTTAGACGGA (n.*226-103_*226-102insTTTTTTTTTTTAGACGGA) c.74-103_74-102insTTTTTTTTTTTAGACGGA (n.74-103_74-102insTTTTTTTTTTTAGACGGA) n.252-103_252-102insTTTTTTTTTTTAGACGGA c.1757-103_1757-102insTTTTTTTTTTTAGACGGA (n.1757-103_1757-102insTTTTTTTTTTTAGACGGA) c.644-103_644-102insTTTTTTTTTTTAGACGGA (n.644-103_644-102insTTTTTTTTTTTAGACGGA) c.1739-103_1739-102insTTTTTTTTTTTAGACGGA (n.1739-103_1739-102insTTTTTTTTTTTAGACGGA) c.1454-103_1454-102insTTTTTTTTTTTAGACGGA (n.1454-103_1454-102insTTTTTTTTTTTAGACGGA) c.236-103_236-102insTTTTTTTTTTTAGACGGA (n.236-103_236-102insTTTTTTTTTTTAGACGGA) n.606-25_606-24insTTTTTTTTTTTAGACGGA | gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTTTGAGACGGA | CA627148137 | ACE | c.2306-103_2306-102insTTTTTTTTTTGAGACGGA (n.2306-103_2306-102insTTTTTTTTTTGAGACGGA) c.584-103_584-102insTTTTTTTTTTGAGACGGA (n.584-103_584-102insTTTTTTTTTTGAGACGGA) c.*376-103_*376-102insTTTTTTTTTTGAGACGGA (n.*376-103_*376-102insTTTTTTTTTTGAGACGGA) c.487-25_487-24insTTTTTTTTTTGAGACGGA (n.487-25_487-24insTTTTTTTTTTGAGACGGA) c.584-25_584-24insTTTTTTTTTTGAGACGGA (n.584-25_584-24insTTTTTTTTTTGAGACGGA) c.*226-103_*226-102insTTTTTTTTTTGAGACGGA (n.*226-103_*226-102insTTTTTTTTTTGAGACGGA) c.74-103_74-102insTTTTTTTTTTGAGACGGA (n.74-103_74-102insTTTTTTTTTTGAGACGGA) n.252-103_252-102insTTTTTTTTTTGAGACGGA c.1757-103_1757-102insTTTTTTTTTTGAGACGGA (n.1757-103_1757-102insTTTTTTTTTTGAGACGGA) c.644-103_644-102insTTTTTTTTTTGAGACGGA (n.644-103_644-102insTTTTTTTTTTGAGACGGA) c.1739-103_1739-102insTTTTTTTTTTGAGACGGA (n.1739-103_1739-102insTTTTTTTTTTGAGACGGA) c.1454-103_1454-102insTTTTTTTTTTGAGACGGA (n.1454-103_1454-102insTTTTTTTTTTGAGACGGA) c.236-103_236-102insTTTTTTTTTTGAGACGGA (n.236-103_236-102insTTTTTTTTTTGAGACGGA) n.606-25_606-24insTTTTTTTTTTGAGACGGA | gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTTTTGAGACGGA | CA2639263649 | ACE | c.2306-103_2306-102insTTTTTTTTTTTGAGACGGA (n.2306-103_2306-102insTTTTTTTTTTTGAGACGGA) c.584-103_584-102insTTTTTTTTTTTGAGACGGA (n.584-103_584-102insTTTTTTTTTTTGAGACGGA) c.*376-103_*376-102insTTTTTTTTTTTGAGACGGA (n.*376-103_*376-102insTTTTTTTTTTTGAGACGGA) c.487-25_487-24insTTTTTTTTTTTGAGACGGA (n.487-25_487-24insTTTTTTTTTTTGAGACGGA) c.584-25_584-24insTTTTTTTTTTTGAGACGGA (n.584-25_584-24insTTTTTTTTTTTGAGACGGA) c.*226-103_*226-102insTTTTTTTTTTTGAGACGGA (n.*226-103_*226-102insTTTTTTTTTTTGAGACGGA) c.74-103_74-102insTTTTTTTTTTTGAGACGGA (n.74-103_74-102insTTTTTTTTTTTGAGACGGA) n.252-103_252-102insTTTTTTTTTTTGAGACGGA c.1757-103_1757-102insTTTTTTTTTTTGAGACGGA (n.1757-103_1757-102insTTTTTTTTTTTGAGACGGA) c.644-103_644-102insTTTTTTTTTTTGAGACGGA (n.644-103_644-102insTTTTTTTTTTTGAGACGGA) c.1739-103_1739-102insTTTTTTTTTTTGAGACGGA (n.1739-103_1739-102insTTTTTTTTTTTGAGACGGA) c.1454-103_1454-102insTTTTTTTTTTTGAGACGGA (n.1454-103_1454-102insTTTTTTTTTTTGAGACGGA) c.236-103_236-102insTTTTTTTTTTTGAGACGGA (n.236-103_236-102insTTTTTTTTTTTGAGACGGA) n.606-25_606-24insTTTTTTTTTTTGAGACGGA | gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA | CA985411462 | ACE | c.2306-103_2306-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.2306-103_2306-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.584-103_584-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.584-103_584-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.*376-103_*376-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.*376-103_*376-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.487-25_487-24insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.487-25_487-24insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.584-25_584-24insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.584-25_584-24insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.*226-103_*226-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.*226-103_*226-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.74-103_74-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.74-103_74-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) n.252-103_252-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA c.1757-103_1757-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.1757-103_1757-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.644-103_644-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.644-103_644-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.1739-103_1739-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.1739-103_1739-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.1454-103_1454-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.1454-103_1454-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.236-103_236-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.236-103_236-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) n.606-25_606-24insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA | gnomAD v3 gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA | CA627148139 | ACE | c.2306-103_2306-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.2306-103_2306-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.584-103_584-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.584-103_584-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.*376-103_*376-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.*376-103_*376-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.487-25_487-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.487-25_487-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.584-25_584-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.584-25_584-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.*226-103_*226-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.*226-103_*226-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.74-103_74-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.74-103_74-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) n.252-103_252-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA c.1757-103_1757-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.1757-103_1757-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.644-103_644-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.644-103_644-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.1739-103_1739-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.1739-103_1739-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.1454-103_1454-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.1454-103_1454-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.236-103_236-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.236-103_236-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) n.606-25_606-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA | CA2639263650 | ACE | c.2306-103_2306-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.2306-103_2306-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.584-103_584-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.584-103_584-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.*376-103_*376-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.*376-103_*376-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.487-25_487-24insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.487-25_487-24insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.584-25_584-24insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.584-25_584-24insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.*226-103_*226-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.*226-103_*226-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.74-103_74-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.74-103_74-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) n.252-103_252-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA c.1757-103_1757-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.1757-103_1757-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.644-103_644-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.644-103_644-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.1739-103_1739-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.1739-103_1739-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.1454-103_1454-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.1454-103_1454-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.236-103_236-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.236-103_236-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) n.606-25_606-24insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA | gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA | CA985411457 | ACE | c.2306-103_2306-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.2306-103_2306-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.584-103_584-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.584-103_584-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.*376-103_*376-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.*376-103_*376-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.487-25_487-24insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.487-25_487-24insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.584-25_584-24insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.584-25_584-24insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.*226-103_*226-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.*226-103_*226-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.74-103_74-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.74-103_74-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) n.252-103_252-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA c.1757-103_1757-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.1757-103_1757-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.644-103_644-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.644-103_644-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.1739-103_1739-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.1739-103_1739-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.1454-103_1454-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.1454-103_1454-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) c.236-103_236-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA (n.236-103_236-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA) n.606-25_606-24insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA | gnomAD v3 gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA | CA985411466 | ACE | c.2306-103_2306-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.2306-103_2306-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.584-103_584-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.584-103_584-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.*376-103_*376-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.*376-103_*376-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.487-25_487-24insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.487-25_487-24insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.584-25_584-24insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.584-25_584-24insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.*226-103_*226-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.*226-103_*226-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.74-103_74-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.74-103_74-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) n.252-103_252-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA c.1757-103_1757-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.1757-103_1757-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.644-103_644-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.644-103_644-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.1739-103_1739-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.1739-103_1739-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.1454-103_1454-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.1454-103_1454-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.236-103_236-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.236-103_236-102insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) n.606-25_606-24insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA | CA985411468 | ACE | c.2306-103_2306-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA (n.2306-103_2306-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA) c.584-103_584-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA (n.584-103_584-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA) c.*376-103_*376-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA (n.*376-103_*376-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA) c.487-25_487-24insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA (n.487-25_487-24insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA) c.584-25_584-24insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA (n.584-25_584-24insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA) c.*226-103_*226-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA (n.*226-103_*226-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA) c.74-103_74-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA (n.74-103_74-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA) n.252-103_252-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA c.1757-103_1757-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA (n.1757-103_1757-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA) c.644-103_644-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA (n.644-103_644-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA) c.1739-103_1739-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA (n.1739-103_1739-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA) c.1454-103_1454-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA (n.1454-103_1454-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA) c.236-103_236-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA (n.236-103_236-102insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA) n.606-25_606-24insTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA | gnomAD v3 gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA | CA627148140 | ACE | c.2306-103_2306-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.2306-103_2306-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.584-103_584-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.584-103_584-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.*376-103_*376-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.*376-103_*376-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.487-25_487-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.487-25_487-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.584-25_584-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.584-25_584-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.*226-103_*226-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.*226-103_*226-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.74-103_74-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.74-103_74-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) n.252-103_252-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA c.1757-103_1757-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.1757-103_1757-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.644-103_644-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.644-103_644-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.1739-103_1739-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.1739-103_1739-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.1454-103_1454-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.1454-103_1454-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.236-103_236-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.236-103_236-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) n.606-25_606-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA | CA2639263651 | ACE | c.2306-103_2306-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.2306-103_2306-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.584-103_584-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.584-103_584-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.*376-103_*376-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.*376-103_*376-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.487-25_487-24insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.487-25_487-24insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.584-25_584-24insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.584-25_584-24insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.*226-103_*226-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.*226-103_*226-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.74-103_74-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.74-103_74-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) n.252-103_252-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA c.1757-103_1757-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.1757-103_1757-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.644-103_644-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.644-103_644-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.1739-103_1739-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.1739-103_1739-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.1454-103_1454-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.1454-103_1454-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.236-103_236-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.236-103_236-102insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) n.606-25_606-24insTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA | gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA | CA985411469 | ACE | c.2306-103_2306-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA (n.2306-103_2306-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA) c.584-103_584-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA (n.584-103_584-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA) c.*376-103_*376-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA (n.*376-103_*376-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA) c.487-25_487-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA (n.487-25_487-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA) c.584-25_584-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA (n.584-25_584-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA) c.*226-103_*226-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA (n.*226-103_*226-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA) c.74-103_74-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA (n.74-103_74-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA) n.252-103_252-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA c.1757-103_1757-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA (n.1757-103_1757-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA) c.644-103_644-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA (n.644-103_644-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA) c.1739-103_1739-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA (n.1739-103_1739-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA) c.1454-103_1454-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA (n.1454-103_1454-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA) c.236-103_236-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA (n.236-103_236-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA) n.606-25_606-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA | gnomAD v3 gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA | CA985411453 | ACE | c.2306-103_2306-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.2306-103_2306-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.584-103_584-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.584-103_584-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.*376-103_*376-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.*376-103_*376-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.487-25_487-24insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.487-25_487-24insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.584-25_584-24insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.584-25_584-24insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.*226-103_*226-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.*226-103_*226-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.74-103_74-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.74-103_74-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) n.252-103_252-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA c.1757-103_1757-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.1757-103_1757-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.644-103_644-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.644-103_644-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.1739-103_1739-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.1739-103_1739-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.1454-103_1454-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.1454-103_1454-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) c.236-103_236-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA (n.236-103_236-102insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA) n.606-25_606-24insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488545_63488546insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG | CA985411460 | ACE | c.2306-103_2306-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG (n.2306-103_2306-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG) c.584-103_584-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG (n.584-103_584-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG) c.*376-103_*376-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG (n.*376-103_*376-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG) c.487-25_487-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG (n.487-25_487-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG) c.584-25_584-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG (n.584-25_584-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG) c.*226-103_*226-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG (n.*226-103_*226-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG) c.74-103_74-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG (n.74-103_74-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG) n.252-103_252-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG c.1757-103_1757-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG (n.1757-103_1757-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG) c.644-103_644-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG (n.644-103_644-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG) c.1739-103_1739-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG (n.1739-103_1739-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG) c.1454-103_1454-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG (n.1454-103_1454-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG) c.236-103_236-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG (n.236-103_236-102insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG) n.606-25_606-24insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG | gnomAD v3 gnomAD v4 |
17 | g.63488546G>C | CA627148136 | ACE | c.2306-102G>C (n.2306-102G>C) c.584-102G>C (n.584-102G>C) c.*376-102G>C (n.*376-102G>C) c.487-24G>C (n.487-24G>C) c.584-24G>C (n.584-24G>C) c.*226-102G>C (n.*226-102G>C) c.74-102G>C (n.74-102G>C) n.252-102G>C c.1757-102G>C (n.1757-102G>C) c.644-102G>C (n.644-102G>C) c.1739-102G>C (n.1739-102G>C) c.1454-102G>C (n.1454-102G>C) c.236-102G>C (n.236-102G>C) n.606-24G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488546G= | CA2269945855 | ACE | c.2306-102G= (n.2306-102G=) c.584-102G= (n.584-102G=) c.*376-102G= (n.*376-102G=) c.487-24G= (n.487-24G=) c.584-24G= (n.584-24G=) c.*226-102G= (n.*226-102G=) c.74-102G= (n.74-102G=) n.252-102G= c.1757-102G= (n.1757-102G=) c.644-102G= (n.644-102G=) c.1739-102G= (n.1739-102G=) c.1454-102G= (n.1454-102G=) c.236-102G= (n.236-102G=) n.606-24G= | |
17 | g.63488546G>T | CA627148135 | ACE | c.2306-102G>T (n.2306-102G>T) c.584-102G>T (n.584-102G>T) c.*376-102G>T (n.*376-102G>T) c.487-24G>T (n.487-24G>T) c.584-24G>T (n.584-24G>T) c.*226-102G>T (n.*226-102G>T) c.74-102G>T (n.74-102G>T) n.252-102G>T c.1757-102G>T (n.1757-102G>T) c.644-102G>T (n.644-102G>T) c.1739-102G>T (n.1739-102G>T) c.1454-102G>T (n.1454-102G>T) c.236-102G>T (n.236-102G>T) n.606-24G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488546_63488549del | CA8700024 | ACE | c.2306-102_2306-99del (n.2306-102_2306-99del) c.584-102_584-99del (n.584-102_584-99del) c.*376-102_*376-99del (n.*376-102_*376-99del) c.487-24_487-21del (n.487-24_487-21del) c.584-24_584-21del (n.584-24_584-21del) c.*226-102_*226-99del (n.*226-102_*226-99del) c.74-102_74-99del (n.74-102_74-99del) n.252-102_252-99del c.1757-102_1757-99del (n.1757-102_1757-99del) c.644-102_644-99del (n.644-102_644-99del) c.1739-102_1739-99del (n.1739-102_1739-99del) c.1454-102_1454-99del (n.1454-102_1454-99del) c.236-102_236-99del (n.236-102_236-99del) n.606-24_606-21del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488547T>A | CA2639263654 | ACE | c.2306-101T>A (n.2306-101T>A) c.584-101T>A (n.584-101T>A) c.*376-101T>A (n.*376-101T>A) c.487-23T>A (n.487-23T>A) c.584-23T>A (n.584-23T>A) c.*226-101T>A (n.*226-101T>A) c.74-101T>A (n.74-101T>A) n.252-101T>A c.1757-101T>A (n.1757-101T>A) c.644-101T>A (n.644-101T>A) c.1739-101T>A (n.1739-101T>A) c.1454-101T>A (n.1454-101T>A) c.236-101T>A (n.236-101T>A) n.606-23T>A | gnomAD v4 |
17 | g.63488547T>G | CA985411477 | ACE | c.2306-101T>G (n.2306-101T>G) c.584-101T>G (n.584-101T>G) c.*376-101T>G (n.*376-101T>G) c.487-23T>G (n.487-23T>G) c.584-23T>G (n.584-23T>G) c.*226-101T>G (n.*226-101T>G) c.74-101T>G (n.74-101T>G) n.252-101T>G c.1757-101T>G (n.1757-101T>G) c.644-101T>G (n.644-101T>G) c.1739-101T>G (n.1739-101T>G) c.1454-101T>G (n.1454-101T>G) c.236-101T>G (n.236-101T>G) n.606-23T>G | gnomAD v3 gnomAD v4 |
17 | g.63488547T= | CA2269945857 | ACE | c.2306-101T= (n.2306-101T=) c.584-101T= (n.584-101T=) c.*376-101T= (n.*376-101T=) c.487-23T= (n.487-23T=) c.584-23T= (n.584-23T=) c.*226-101T= (n.*226-101T=) c.74-101T= (n.74-101T=) n.252-101T= c.1757-101T= (n.1757-101T=) c.644-101T= (n.644-101T=) c.1739-101T= (n.1739-101T=) c.1454-101T= (n.1454-101T=) c.236-101T= (n.236-101T=) n.606-23T= | |
17 | g.63488547_63488548insCACCCAGGCT | CA985411473 | ACE | c.2306-101_2306-100insCACCCAGGCT (n.2306-101_2306-100insCACCCAGGCT) c.584-101_584-100insCACCCAGGCT (n.584-101_584-100insCACCCAGGCT) c.*376-101_*376-100insCACCCAGGCT (n.*376-101_*376-100insCACCCAGGCT) c.487-23_487-22insCACCCAGGCT (n.487-23_487-22insCACCCAGGCT) c.584-23_584-22insCACCCAGGCT (n.584-23_584-22insCACCCAGGCT) c.*226-101_*226-100insCACCCAGGCT (n.*226-101_*226-100insCACCCAGGCT) c.74-101_74-100insCACCCAGGCT (n.74-101_74-100insCACCCAGGCT) n.252-101_252-100insCACCCAGGCT c.1757-101_1757-100insCACCCAGGCT (n.1757-101_1757-100insCACCCAGGCT) c.644-101_644-100insCACCCAGGCT (n.644-101_644-100insCACCCAGGCT) c.1739-101_1739-100insCACCCAGGCT (n.1739-101_1739-100insCACCCAGGCT) c.1454-101_1454-100insCACCCAGGCT (n.1454-101_1454-100insCACCCAGGCT) c.236-101_236-100insCACCCAGGCT (n.236-101_236-100insCACCCAGGCT) n.606-23_606-22insCACCCAGGCT | gnomAD v3 gnomAD v4 |
17 | g.63488547_63488548insCGCCCAGGCT | CA627148141 | ACE | c.2306-101_2306-100insCGCCCAGGCT (n.2306-101_2306-100insCGCCCAGGCT) c.584-101_584-100insCGCCCAGGCT (n.584-101_584-100insCGCCCAGGCT) c.*376-101_*376-100insCGCCCAGGCT (n.*376-101_*376-100insCGCCCAGGCT) c.487-23_487-22insCGCCCAGGCT (n.487-23_487-22insCGCCCAGGCT) c.584-23_584-22insCGCCCAGGCT (n.584-23_584-22insCGCCCAGGCT) c.*226-101_*226-100insCGCCCAGGCT (n.*226-101_*226-100insCGCCCAGGCT) c.74-101_74-100insCGCCCAGGCT (n.74-101_74-100insCGCCCAGGCT) n.252-101_252-100insCGCCCAGGCT c.1757-101_1757-100insCGCCCAGGCT (n.1757-101_1757-100insCGCCCAGGCT) c.644-101_644-100insCGCCCAGGCT (n.644-101_644-100insCGCCCAGGCT) c.1739-101_1739-100insCGCCCAGGCT (n.1739-101_1739-100insCGCCCAGGCT) c.1454-101_1454-100insCGCCCAGGCT (n.1454-101_1454-100insCGCCCAGGCT) c.236-101_236-100insCGCCCAGGCT (n.236-101_236-100insCGCCCAGGCT) n.606-23_606-22insCGCCCAGGCT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488547_63488549delinsTGG | CA2269945856 | ACE | c.2306-101_2306-99delinsTGG (n.2306-101_2306-99delinsTGG) c.584-101_584-99delinsTGG (n.584-101_584-99delinsTGG) c.*376-101_*376-99delinsTGG (n.*376-101_*376-99delinsTGG) c.487-23_487-21delinsTGG (n.487-23_487-21delinsTGG) c.584-23_584-21delinsTGG (n.584-23_584-21delinsTGG) c.*226-101_*226-99delinsTGG (n.*226-101_*226-99delinsTGG) c.74-101_74-99delinsTGG (n.74-101_74-99delinsTGG) n.252-101_252-99delinsTGG c.1757-101_1757-99delinsTGG (n.1757-101_1757-99delinsTGG) c.644-101_644-99delinsTGG (n.644-101_644-99delinsTGG) c.1739-101_1739-99delinsTGG (n.1739-101_1739-99delinsTGG) c.1454-101_1454-99delinsTGG (n.1454-101_1454-99delinsTGG) c.236-101_236-99delinsTGG (n.236-101_236-99delinsTGG) n.606-23_606-21delinsTGG | |
17 | g.63488547_63488548insCTC | CA985411481 | ACE | c.2306-101_2306-100insCTC (n.2306-101_2306-100insCTC) c.584-101_584-100insCTC (n.584-101_584-100insCTC) c.*376-101_*376-100insCTC (n.*376-101_*376-100insCTC) c.487-23_487-22insCTC (n.487-23_487-22insCTC) c.584-23_584-22insCTC (n.584-23_584-22insCTC) c.*226-101_*226-100insCTC (n.*226-101_*226-100insCTC) c.74-101_74-100insCTC (n.74-101_74-100insCTC) n.252-101_252-100insCTC c.1757-101_1757-100insCTC (n.1757-101_1757-100insCTC) c.644-101_644-100insCTC (n.644-101_644-100insCTC) c.1739-101_1739-100insCTC (n.1739-101_1739-100insCTC) c.1454-101_1454-100insCTC (n.1454-101_1454-100insCTC) c.236-101_236-100insCTC (n.236-101_236-100insCTC) n.606-23_606-22insCTC | gnomAD v3 gnomAD v4 |
17 | g.63488547_63488548insCGCCCA | CA627148149 | ACE | c.2306-101_2306-100insCGCCCA (n.2306-101_2306-100insCGCCCA) c.584-101_584-100insCGCCCA (n.584-101_584-100insCGCCCA) c.*376-101_*376-100insCGCCCA (n.*376-101_*376-100insCGCCCA) c.487-23_487-22insCGCCCA (n.487-23_487-22insCGCCCA) c.584-23_584-22insCGCCCA (n.584-23_584-22insCGCCCA) c.*226-101_*226-100insCGCCCA (n.*226-101_*226-100insCGCCCA) c.74-101_74-100insCGCCCA (n.74-101_74-100insCGCCCA) n.252-101_252-100insCGCCCA c.1757-101_1757-100insCGCCCA (n.1757-101_1757-100insCGCCCA) c.644-101_644-100insCGCCCA (n.644-101_644-100insCGCCCA) c.1739-101_1739-100insCGCCCA (n.1739-101_1739-100insCGCCCA) c.1454-101_1454-100insCGCCCA (n.1454-101_1454-100insCGCCCA) c.236-101_236-100insCGCCCA (n.236-101_236-100insCGCCCA) n.606-23_606-22insCGCCCA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488547_63488548insTTTTTTTTA | CA2639263660 | ACE | c.2306-101_2306-100insTTTTTTTTA (n.2306-101_2306-100insTTTTTTTTA) c.584-101_584-100insTTTTTTTTA (n.584-101_584-100insTTTTTTTTA) c.*376-101_*376-100insTTTTTTTTA (n.*376-101_*376-100insTTTTTTTTA) c.487-23_487-22insTTTTTTTTA (n.487-23_487-22insTTTTTTTTA) c.584-23_584-22insTTTTTTTTA (n.584-23_584-22insTTTTTTTTA) c.*226-101_*226-100insTTTTTTTTA (n.*226-101_*226-100insTTTTTTTTA) c.74-101_74-100insTTTTTTTTA (n.74-101_74-100insTTTTTTTTA) n.252-101_252-100insTTTTTTTTA c.1757-101_1757-100insTTTTTTTTA (n.1757-101_1757-100insTTTTTTTTA) c.644-101_644-100insTTTTTTTTA (n.644-101_644-100insTTTTTTTTA) c.1739-101_1739-100insTTTTTTTTA (n.1739-101_1739-100insTTTTTTTTA) c.1454-101_1454-100insTTTTTTTTA (n.1454-101_1454-100insTTTTTTTTA) c.236-101_236-100insTTTTTTTTA (n.236-101_236-100insTTTTTTTTA) n.606-23_606-22insTTTTTTTTA | gnomAD v4 |
17 | g.63488547_63488548insTTTTTTTTG | CA2639263658 | ACE | c.2306-101_2306-100insTTTTTTTTG (n.2306-101_2306-100insTTTTTTTTG) c.584-101_584-100insTTTTTTTTG (n.584-101_584-100insTTTTTTTTG) c.*376-101_*376-100insTTTTTTTTG (n.*376-101_*376-100insTTTTTTTTG) c.487-23_487-22insTTTTTTTTG (n.487-23_487-22insTTTTTTTTG) c.584-23_584-22insTTTTTTTTG (n.584-23_584-22insTTTTTTTTG) c.*226-101_*226-100insTTTTTTTTG (n.*226-101_*226-100insTTTTTTTTG) c.74-101_74-100insTTTTTTTTG (n.74-101_74-100insTTTTTTTTG) n.252-101_252-100insTTTTTTTTG c.1757-101_1757-100insTTTTTTTTG (n.1757-101_1757-100insTTTTTTTTG) c.644-101_644-100insTTTTTTTTG (n.644-101_644-100insTTTTTTTTG) c.1739-101_1739-100insTTTTTTTTG (n.1739-101_1739-100insTTTTTTTTG) c.1454-101_1454-100insTTTTTTTTG (n.1454-101_1454-100insTTTTTTTTG) c.236-101_236-100insTTTTTTTTG (n.236-101_236-100insTTTTTTTTG) n.606-23_606-22insTTTTTTTTG | gnomAD v4 |
17 | g.63488547_63488548insTTTTTTGAGAC | CA985411485 | ACE | c.2306-101_2306-100insTTTTTTGAGAC (n.2306-101_2306-100insTTTTTTGAGAC) c.584-101_584-100insTTTTTTGAGAC (n.584-101_584-100insTTTTTTGAGAC) c.*376-101_*376-100insTTTTTTGAGAC (n.*376-101_*376-100insTTTTTTGAGAC) c.487-23_487-22insTTTTTTGAGAC (n.487-23_487-22insTTTTTTGAGAC) c.584-23_584-22insTTTTTTGAGAC (n.584-23_584-22insTTTTTTGAGAC) c.*226-101_*226-100insTTTTTTGAGAC (n.*226-101_*226-100insTTTTTTGAGAC) c.74-101_74-100insTTTTTTGAGAC (n.74-101_74-100insTTTTTTGAGAC) n.252-101_252-100insTTTTTTGAGAC c.1757-101_1757-100insTTTTTTGAGAC (n.1757-101_1757-100insTTTTTTGAGAC) c.644-101_644-100insTTTTTTGAGAC (n.644-101_644-100insTTTTTTGAGAC) c.1739-101_1739-100insTTTTTTGAGAC (n.1739-101_1739-100insTTTTTTGAGAC) c.1454-101_1454-100insTTTTTTGAGAC (n.1454-101_1454-100insTTTTTTGAGAC) c.236-101_236-100insTTTTTTGAGAC (n.236-101_236-100insTTTTTTGAGAC) n.606-23_606-22insTTTTTTGAGAC | gnomAD v3 gnomAD v4 |
17 | g.63488547_63488548insTTTTTTTGAGAC | CA627148142 | ACE | c.2306-101_2306-100insTTTTTTTGAGAC (n.2306-101_2306-100insTTTTTTTGAGAC) c.584-101_584-100insTTTTTTTGAGAC (n.584-101_584-100insTTTTTTTGAGAC) c.*376-101_*376-100insTTTTTTTGAGAC (n.*376-101_*376-100insTTTTTTTGAGAC) c.487-23_487-22insTTTTTTTGAGAC (n.487-23_487-22insTTTTTTTGAGAC) c.584-23_584-22insTTTTTTTGAGAC (n.584-23_584-22insTTTTTTTGAGAC) c.*226-101_*226-100insTTTTTTTGAGAC (n.*226-101_*226-100insTTTTTTTGAGAC) c.74-101_74-100insTTTTTTTGAGAC (n.74-101_74-100insTTTTTTTGAGAC) n.252-101_252-100insTTTTTTTGAGAC c.1757-101_1757-100insTTTTTTTGAGAC (n.1757-101_1757-100insTTTTTTTGAGAC) c.644-101_644-100insTTTTTTTGAGAC (n.644-101_644-100insTTTTTTTGAGAC) c.1739-101_1739-100insTTTTTTTGAGAC (n.1739-101_1739-100insTTTTTTTGAGAC) c.1454-101_1454-100insTTTTTTTGAGAC (n.1454-101_1454-100insTTTTTTTGAGAC) c.236-101_236-100insTTTTTTTGAGAC (n.236-101_236-100insTTTTTTTGAGAC) n.606-23_606-22insTTTTTTTGAGAC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488547_63488548insTTTTTTTTAGAC | CA2639263659 | ACE | c.2306-101_2306-100insTTTTTTTTAGAC (n.2306-101_2306-100insTTTTTTTTAGAC) c.584-101_584-100insTTTTTTTTAGAC (n.584-101_584-100insTTTTTTTTAGAC) c.*376-101_*376-100insTTTTTTTTAGAC (n.*376-101_*376-100insTTTTTTTTAGAC) c.487-23_487-22insTTTTTTTTAGAC (n.487-23_487-22insTTTTTTTTAGAC) c.584-23_584-22insTTTTTTTTAGAC (n.584-23_584-22insTTTTTTTTAGAC) c.*226-101_*226-100insTTTTTTTTAGAC (n.*226-101_*226-100insTTTTTTTTAGAC) c.74-101_74-100insTTTTTTTTAGAC (n.74-101_74-100insTTTTTTTTAGAC) n.252-101_252-100insTTTTTTTTAGAC c.1757-101_1757-100insTTTTTTTTAGAC (n.1757-101_1757-100insTTTTTTTTAGAC) c.644-101_644-100insTTTTTTTTAGAC (n.644-101_644-100insTTTTTTTTAGAC) c.1739-101_1739-100insTTTTTTTTAGAC (n.1739-101_1739-100insTTTTTTTTAGAC) c.1454-101_1454-100insTTTTTTTTAGAC (n.1454-101_1454-100insTTTTTTTTAGAC) c.236-101_236-100insTTTTTTTTAGAC (n.236-101_236-100insTTTTTTTTAGAC) n.606-23_606-22insTTTTTTTTAGAC | gnomAD v4 |
17 | g.63488547_63488548insTTTTTTTTGAGAC | CA627148144 | ACE | c.2306-101_2306-100insTTTTTTTTGAGAC (n.2306-101_2306-100insTTTTTTTTGAGAC) c.584-101_584-100insTTTTTTTTGAGAC (n.584-101_584-100insTTTTTTTTGAGAC) c.*376-101_*376-100insTTTTTTTTGAGAC (n.*376-101_*376-100insTTTTTTTTGAGAC) c.487-23_487-22insTTTTTTTTGAGAC (n.487-23_487-22insTTTTTTTTGAGAC) c.584-23_584-22insTTTTTTTTGAGAC (n.584-23_584-22insTTTTTTTTGAGAC) c.*226-101_*226-100insTTTTTTTTGAGAC (n.*226-101_*226-100insTTTTTTTTGAGAC) c.74-101_74-100insTTTTTTTTGAGAC (n.74-101_74-100insTTTTTTTTGAGAC) n.252-101_252-100insTTTTTTTTGAGAC c.1757-101_1757-100insTTTTTTTTGAGAC (n.1757-101_1757-100insTTTTTTTTGAGAC) c.644-101_644-100insTTTTTTTTGAGAC (n.644-101_644-100insTTTTTTTTGAGAC) c.1739-101_1739-100insTTTTTTTTGAGAC (n.1739-101_1739-100insTTTTTTTTGAGAC) c.1454-101_1454-100insTTTTTTTTGAGAC (n.1454-101_1454-100insTTTTTTTTGAGAC) c.236-101_236-100insTTTTTTTTGAGAC (n.236-101_236-100insTTTTTTTTGAGAC) n.606-23_606-22insTTTTTTTTGAGAC | gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488547_63488548insTTTTTTTTTAGAC | CA2639263657 | ACE | c.2306-101_2306-100insTTTTTTTTTAGAC (n.2306-101_2306-100insTTTTTTTTTAGAC) c.584-101_584-100insTTTTTTTTTAGAC (n.584-101_584-100insTTTTTTTTTAGAC) c.*376-101_*376-100insTTTTTTTTTAGAC (n.*376-101_*376-100insTTTTTTTTTAGAC) c.487-23_487-22insTTTTTTTTTAGAC (n.487-23_487-22insTTTTTTTTTAGAC) c.584-23_584-22insTTTTTTTTTAGAC (n.584-23_584-22insTTTTTTTTTAGAC) c.*226-101_*226-100insTTTTTTTTTAGAC (n.*226-101_*226-100insTTTTTTTTTAGAC) c.74-101_74-100insTTTTTTTTTAGAC (n.74-101_74-100insTTTTTTTTTAGAC) n.252-101_252-100insTTTTTTTTTAGAC c.1757-101_1757-100insTTTTTTTTTAGAC (n.1757-101_1757-100insTTTTTTTTTAGAC) c.644-101_644-100insTTTTTTTTTAGAC (n.644-101_644-100insTTTTTTTTTAGAC) c.1739-101_1739-100insTTTTTTTTTAGAC (n.1739-101_1739-100insTTTTTTTTTAGAC) c.1454-101_1454-100insTTTTTTTTTAGAC (n.1454-101_1454-100insTTTTTTTTTAGAC) c.236-101_236-100insTTTTTTTTTAGAC (n.236-101_236-100insTTTTTTTTTAGAC) n.606-23_606-22insTTTTTTTTTAGAC | gnomAD v4 |
17 | g.63488547_63488548insTTTTTTTTTGAGAC | CA2639263656 | ACE | c.2306-101_2306-100insTTTTTTTTTGAGAC (n.2306-101_2306-100insTTTTTTTTTGAGAC) c.584-101_584-100insTTTTTTTTTGAGAC (n.584-101_584-100insTTTTTTTTTGAGAC) c.*376-101_*376-100insTTTTTTTTTGAGAC (n.*376-101_*376-100insTTTTTTTTTGAGAC) c.487-23_487-22insTTTTTTTTTGAGAC (n.487-23_487-22insTTTTTTTTTGAGAC) c.584-23_584-22insTTTTTTTTTGAGAC (n.584-23_584-22insTTTTTTTTTGAGAC) c.*226-101_*226-100insTTTTTTTTTGAGAC (n.*226-101_*226-100insTTTTTTTTTGAGAC) c.74-101_74-100insTTTTTTTTTGAGAC (n.74-101_74-100insTTTTTTTTTGAGAC) n.252-101_252-100insTTTTTTTTTGAGAC c.1757-101_1757-100insTTTTTTTTTGAGAC (n.1757-101_1757-100insTTTTTTTTTGAGAC) c.644-101_644-100insTTTTTTTTTGAGAC (n.644-101_644-100insTTTTTTTTTGAGAC) c.1739-101_1739-100insTTTTTTTTTGAGAC (n.1739-101_1739-100insTTTTTTTTTGAGAC) c.1454-101_1454-100insTTTTTTTTTGAGAC (n.1454-101_1454-100insTTTTTTTTTGAGAC) c.236-101_236-100insTTTTTTTTTGAGAC (n.236-101_236-100insTTTTTTTTTGAGAC) n.606-23_606-22insTTTTTTTTTGAGAC | gnomAD v4 |
17 | g.63488547_63488548insCGCCGAGGCTGGAGTGCAGTGGC | CA2639263655 | ACE | c.2306-101_2306-100insCGCCGAGGCTGGAGTGCAGTGGC (n.2306-101_2306-100insCGCCGAGGCTGGAGTGCAGTGGC) c.584-101_584-100insCGCCGAGGCTGGAGTGCAGTGGC (n.584-101_584-100insCGCCGAGGCTGGAGTGCAGTGGC) c.*376-101_*376-100insCGCCGAGGCTGGAGTGCAGTGGC (n.*376-101_*376-100insCGCCGAGGCTGGAGTGCAGTGGC) c.487-23_487-22insCGCCGAGGCTGGAGTGCAGTGGC (n.487-23_487-22insCGCCGAGGCTGGAGTGCAGTGGC) c.584-23_584-22insCGCCGAGGCTGGAGTGCAGTGGC (n.584-23_584-22insCGCCGAGGCTGGAGTGCAGTGGC) c.*226-101_*226-100insCGCCGAGGCTGGAGTGCAGTGGC (n.*226-101_*226-100insCGCCGAGGCTGGAGTGCAGTGGC) c.74-101_74-100insCGCCGAGGCTGGAGTGCAGTGGC (n.74-101_74-100insCGCCGAGGCTGGAGTGCAGTGGC) n.252-101_252-100insCGCCGAGGCTGGAGTGCAGTGGC c.1757-101_1757-100insCGCCGAGGCTGGAGTGCAGTGGC (n.1757-101_1757-100insCGCCGAGGCTGGAGTGCAGTGGC) c.644-101_644-100insCGCCGAGGCTGGAGTGCAGTGGC (n.644-101_644-100insCGCCGAGGCTGGAGTGCAGTGGC) c.1739-101_1739-100insCGCCGAGGCTGGAGTGCAGTGGC (n.1739-101_1739-100insCGCCGAGGCTGGAGTGCAGTGGC) c.1454-101_1454-100insCGCCGAGGCTGGAGTGCAGTGGC (n.1454-101_1454-100insCGCCGAGGCTGGAGTGCAGTGGC) c.236-101_236-100insCGCCGAGGCTGGAGTGCAGTGGC (n.236-101_236-100insCGCCGAGGCTGGAGTGCAGTGGC) n.606-23_606-22insCGCCGAGGCTGGAGTGCAGTGGC | gnomAD v4 |
17 | g.63488547_63488548insCGCCCAGGCTGGAGTGCAGTGGC | CA627148148 | ACE | c.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGC (n.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGC) c.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC (n.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC) c.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGC (n.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGC) c.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGC (n.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGC) c.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGC (n.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGC) c.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGC (n.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGC) c.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGC (n.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGC) n.252-101_252-100insCGCCCAGGCTGGAGTGCAGTGGC c.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGC (n.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGC) c.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGC (n.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGC) c.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGC (n.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGC) c.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGC (n.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGC) c.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGC (n.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGC) n.606-23_606-22insCGCCCAGGCTGGAGTGCAGTGGC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488547_63488548insCGCCCAGGCTGGAGTGCAGTGGCG | CA627148146 | ACE | c.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGCG) c.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGCG) c.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGCG) c.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGCG (n.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGCG) c.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGCG (n.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGCG) c.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGCG) c.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGCG) n.252-101_252-100insCGCCCAGGCTGGAGTGCAGTGGCG c.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGCG) c.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGCG) c.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGCG) c.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGCG) c.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGCG) n.606-23_606-22insCGCCCAGGCTGGAGTGCAGTGGCG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488547_63488548insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC | CA627148150 | ACE | c.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC) c.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC) c.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC) c.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC) c.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC) c.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC) c.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC) n.252-101_252-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC c.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC) c.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC) c.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC) c.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC) c.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC) n.606-23_606-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC | gnomAD v2 |
17 | g.63488547_63488548insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG | CA627148145 | ACE | c.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG) c.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG) c.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG) c.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG) c.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG) c.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG) c.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG) n.252-101_252-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG c.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG) c.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG) c.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG) c.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG) c.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG) n.606-23_606-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG | gnomAD v2 |
17 | g.63488548G>A | CA985411487 | ACE | c.2306-100G>A (n.2306-100G>A) c.584-100G>A (n.584-100G>A) c.*376-100G>A (n.*376-100G>A) c.487-22G>A (n.487-22G>A) c.584-22G>A (n.584-22G>A) c.*226-100G>A (n.*226-100G>A) c.74-100G>A (n.74-100G>A) n.252-100G>A c.1757-100G>A (n.1757-100G>A) c.644-100G>A (n.644-100G>A) c.1739-100G>A (n.1739-100G>A) c.1454-100G>A (n.1454-100G>A) c.236-100G>A (n.236-100G>A) n.606-22G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488548G= | CA2269945858 | ACE | c.2306-100G= (n.2306-100G=) c.584-100G= (n.584-100G=) c.*376-100G= (n.*376-100G=) c.487-22G= (n.487-22G=) c.584-22G= (n.584-22G=) c.*226-100G= (n.*226-100G=) c.74-100G= (n.74-100G=) n.252-100G= c.1757-100G= (n.1757-100G=) c.644-100G= (n.644-100G=) c.1739-100G= (n.1739-100G=) c.1454-100G= (n.1454-100G=) c.236-100G= (n.236-100G=) n.606-22G= | |
17 | g.63488548G>T | CA627148143 | ACE | c.2306-100G>T (n.2306-100G>T) c.584-100G>T (n.584-100G>T) c.*376-100G>T (n.*376-100G>T) c.487-22G>T (n.487-22G>T) c.584-22G>T (n.584-22G>T) c.*226-100G>T (n.*226-100G>T) c.74-100G>T (n.74-100G>T) n.252-100G>T c.1757-100G>T (n.1757-100G>T) c.644-100G>T (n.644-100G>T) c.1739-100G>T (n.1739-100G>T) c.1454-100G>T (n.1454-100G>T) c.236-100G>T (n.236-100G>T) n.606-22G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488548_63488549del | CA627148147 | ACE | c.2306-100_2306-99del (n.2306-100_2306-99del) c.584-100_584-99del (n.584-100_584-99del) c.*376-100_*376-99del (n.*376-100_*376-99del) c.487-22_487-21del (n.487-22_487-21del) c.584-22_584-21del (n.584-22_584-21del) c.*226-100_*226-99del (n.*226-100_*226-99del) c.74-100_74-99del (n.74-100_74-99del) n.252-100_252-99del c.1757-100_1757-99del (n.1757-100_1757-99del) c.644-100_644-99del (n.644-100_644-99del) c.1739-100_1739-99del (n.1739-100_1739-99del) c.1454-100_1454-99del (n.1454-100_1454-99del) c.236-100_236-99del (n.236-100_236-99del) n.606-22_606-21del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488548_63488549insCA | CA627148152 | ACE | c.2306-100_2306-99insCA (n.2306-100_2306-99insCA) c.584-100_584-99insCA (n.584-100_584-99insCA) c.*376-100_*376-99insCA (n.*376-100_*376-99insCA) c.487-22_487-21insCA (n.487-22_487-21insCA) c.584-22_584-21insCA (n.584-22_584-21insCA) c.*226-100_*226-99insCA (n.*226-100_*226-99insCA) c.74-100_74-99insCA (n.74-100_74-99insCA) n.252-100_252-99insCA c.1757-100_1757-99insCA (n.1757-100_1757-99insCA) c.644-100_644-99insCA (n.644-100_644-99insCA) c.1739-100_1739-99insCA (n.1739-100_1739-99insCA) c.1454-100_1454-99insCA (n.1454-100_1454-99insCA) c.236-100_236-99insCA (n.236-100_236-99insCA) n.606-22_606-21insCA | gnomAD v2 |
17 | g.63488548_63488549insACGGA | CA2639263661 | ACE | c.2306-100_2306-99insACGGA (n.2306-100_2306-99insACGGA) c.584-100_584-99insACGGA (n.584-100_584-99insACGGA) c.*376-100_*376-99insACGGA (n.*376-100_*376-99insACGGA) c.487-22_487-21insACGGA (n.487-22_487-21insACGGA) c.584-22_584-21insACGGA (n.584-22_584-21insACGGA) c.*226-100_*226-99insACGGA (n.*226-100_*226-99insACGGA) c.74-100_74-99insACGGA (n.74-100_74-99insACGGA) n.252-100_252-99insACGGA c.1757-100_1757-99insACGGA (n.1757-100_1757-99insACGGA) c.644-100_644-99insACGGA (n.644-100_644-99insACGGA) c.1739-100_1739-99insACGGA (n.1739-100_1739-99insACGGA) c.1454-100_1454-99insACGGA (n.1454-100_1454-99insACGGA) c.236-100_236-99insACGGA (n.236-100_236-99insACGGA) n.606-22_606-21insACGGA | gnomAD v4 |
17 | g.63488548_63488549insAGACGGA | CA627148151 | ACE | c.2306-100_2306-99insAGACGGA (n.2306-100_2306-99insAGACGGA) c.584-100_584-99insAGACGGA (n.584-100_584-99insAGACGGA) c.*376-100_*376-99insAGACGGA (n.*376-100_*376-99insAGACGGA) c.487-22_487-21insAGACGGA (n.487-22_487-21insAGACGGA) c.584-22_584-21insAGACGGA (n.584-22_584-21insAGACGGA) c.*226-100_*226-99insAGACGGA (n.*226-100_*226-99insAGACGGA) c.74-100_74-99insAGACGGA (n.74-100_74-99insAGACGGA) n.252-100_252-99insAGACGGA c.1757-100_1757-99insAGACGGA (n.1757-100_1757-99insAGACGGA) c.644-100_644-99insAGACGGA (n.644-100_644-99insAGACGGA) c.1739-100_1739-99insAGACGGA (n.1739-100_1739-99insAGACGGA) c.1454-100_1454-99insAGACGGA (n.1454-100_1454-99insAGACGGA) c.236-100_236-99insAGACGGA (n.236-100_236-99insAGACGGA) n.606-22_606-21insAGACGGA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488549G= | CA2269945859 | ACE | c.2306-99G= (n.2306-99G=) c.584-99G= (n.584-99G=) c.*376-99G= (n.*376-99G=) c.487-21G= (n.487-21G=) c.584-21G= (n.584-21G=) c.*226-99G= (n.*226-99G=) c.74-99G= (n.74-99G=) n.252-99G= c.1757-99G= (n.1757-99G=) c.644-99G= (n.644-99G=) c.1739-99G= (n.1739-99G=) c.1454-99G= (n.1454-99G=) c.236-99G= (n.236-99G=) n.606-21G= | |
17 | g.63488549G>T | CA627148153 | ACE | c.2306-99G>T (n.2306-99G>T) c.584-99G>T (n.584-99G>T) c.*376-99G>T (n.*376-99G>T) c.487-21G>T (n.487-21G>T) c.584-21G>T (n.584-21G>T) c.*226-99G>T (n.*226-99G>T) c.74-99G>T (n.74-99G>T) n.252-99G>T c.1757-99G>T (n.1757-99G>T) c.644-99G>T (n.644-99G>T) c.1739-99G>T (n.1739-99G>T) c.1454-99G>T (n.1454-99G>T) c.236-99G>T (n.236-99G>T) n.606-21G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488549_63488550insCGGGA | CA2810114478 | ACE | c.2306-99_2306-98insCGGGA (n.2306-99_2306-98insCGGGA) c.584-99_584-98insCGGGA (n.584-99_584-98insCGGGA) c.*376-99_*376-98insCGGGA (n.*376-99_*376-98insCGGGA) c.487-21_487-20insCGGGA (n.487-21_487-20insCGGGA) c.584-21_584-20insCGGGA (n.584-21_584-20insCGGGA) c.*226-99_*226-98insCGGGA (n.*226-99_*226-98insCGGGA) c.74-99_74-98insCGGGA (n.74-99_74-98insCGGGA) n.252-99_252-98insCGGGA c.1757-99_1757-98insCGGGA (n.1757-99_1757-98insCGGGA) c.644-99_644-98insCGGGA (n.644-99_644-98insCGGGA) c.1739-99_1739-98insCGGGA (n.1739-99_1739-98insCGGGA) c.1454-99_1454-98insCGGGA (n.1454-99_1454-98insCGGGA) c.236-99_236-98insCGGGA (n.236-99_236-98insCGGGA) n.606-21_606-20insCGGGA | |
17 | g.63488549_63488550insAGTCTCGCTC | CA627148154 | ACE | c.2306-99_2306-98insAGTCTCGCTC (n.2306-99_2306-98insAGTCTCGCTC) c.584-99_584-98insAGTCTCGCTC (n.584-99_584-98insAGTCTCGCTC) c.*376-99_*376-98insAGTCTCGCTC (n.*376-99_*376-98insAGTCTCGCTC) c.487-21_487-20insAGTCTCGCTC (n.487-21_487-20insAGTCTCGCTC) c.584-21_584-20insAGTCTCGCTC (n.584-21_584-20insAGTCTCGCTC) c.*226-99_*226-98insAGTCTCGCTC (n.*226-99_*226-98insAGTCTCGCTC) c.74-99_74-98insAGTCTCGCTC (n.74-99_74-98insAGTCTCGCTC) n.252-99_252-98insAGTCTCGCTC c.1757-99_1757-98insAGTCTCGCTC (n.1757-99_1757-98insAGTCTCGCTC) c.644-99_644-98insAGTCTCGCTC (n.644-99_644-98insAGTCTCGCTC) c.1739-99_1739-98insAGTCTCGCTC (n.1739-99_1739-98insAGTCTCGCTC) c.1454-99_1454-98insAGTCTCGCTC (n.1454-99_1454-98insAGTCTCGCTC) c.236-99_236-98insAGTCTCGCTC (n.236-99_236-98insAGTCTCGCTC) n.606-21_606-20insAGTCTCGCTC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488550T>C | CA2269945861 | ACE | c.2306-98T>C (n.2306-98T>C) c.584-98T>C (n.584-98T>C) c.*376-98T>C (n.*376-98T>C) c.487-20T>C (n.487-20T>C) c.584-20T>C (n.584-20T>C) c.*226-98T>C (n.*226-98T>C) c.74-98T>C (n.74-98T>C) n.252-98T>C c.1757-98T>C (n.1757-98T>C) c.644-98T>C (n.644-98T>C) c.1739-98T>C (n.1739-98T>C) c.1454-98T>C (n.1454-98T>C) c.236-98T>C (n.236-98T>C) n.606-20T>C | dbSNP |
17 | g.63488550T= | CA2269945860 | ACE | c.2306-98T= (n.2306-98T=) c.584-98T= (n.584-98T=) c.*376-98T= (n.*376-98T=) c.487-20T= (n.487-20T=) c.584-20T= (n.584-20T=) c.*226-98T= (n.*226-98T=) c.74-98T= (n.74-98T=) n.252-98T= c.1757-98T= (n.1757-98T=) c.644-98T= (n.644-98T=) c.1739-98T= (n.1739-98T=) c.1454-98T= (n.1454-98T=) c.236-98T= (n.236-98T=) n.606-20T= | |
17 | g.63488551_63488552del | CA2639263662 | ACE | c.2306-97_2306-96del (n.2306-97_2306-96del) c.584-97_584-96del (n.584-97_584-96del) c.*376-97_*376-96del (n.*376-97_*376-96del) c.487-19_487-18del (n.487-19_487-18del) c.584-19_584-18del (n.584-19_584-18del) c.*226-97_*226-96del (n.*226-97_*226-96del) c.74-97_74-96del (n.74-97_74-96del) n.252-97_252-96del c.1757-97_1757-96del (n.1757-97_1757-96del) c.644-97_644-96del (n.644-97_644-96del) c.1739-97_1739-96del (n.1739-97_1739-96del) c.1454-97_1454-96del (n.1454-97_1454-96del) c.236-97_236-96del (n.236-97_236-96del) n.606-19_606-18del | gnomAD v4 |
17 | g.63488550_63488551insGGG | CA985411494 | ACE | c.2306-98_2306-97insGGG (n.2306-98_2306-97insGGG) c.584-98_584-97insGGG (n.584-98_584-97insGGG) c.*376-98_*376-97insGGG (n.*376-98_*376-97insGGG) c.487-20_487-19insGGG (n.487-20_487-19insGGG) c.584-20_584-19insGGG (n.584-20_584-19insGGG) c.*226-98_*226-97insGGG (n.*226-98_*226-97insGGG) c.74-98_74-97insGGG (n.74-98_74-97insGGG) n.252-98_252-97insGGG c.1757-98_1757-97insGGG (n.1757-98_1757-97insGGG) c.644-98_644-97insGGG (n.644-98_644-97insGGG) c.1739-98_1739-97insGGG (n.1739-98_1739-97insGGG) c.1454-98_1454-97insGGG (n.1454-98_1454-97insGGG) c.236-98_236-97insGGG (n.236-98_236-97insGGG) n.606-20_606-19insGGG | gnomAD v3 gnomAD v4 |
17 | g.63488550_63488551insGGCGGGATCTCGGCTCACTGCAAGC | CA627148155 | ACE | c.2306-98_2306-97insGGCGGGATCTCGGCTCACTGCAAGC (n.2306-98_2306-97insGGCGGGATCTCGGCTCACTGCAAGC) c.584-98_584-97insGGCGGGATCTCGGCTCACTGCAAGC (n.584-98_584-97insGGCGGGATCTCGGCTCACTGCAAGC) c.*376-98_*376-97insGGCGGGATCTCGGCTCACTGCAAGC (n.*376-98_*376-97insGGCGGGATCTCGGCTCACTGCAAGC) c.487-20_487-19insGGCGGGATCTCGGCTCACTGCAAGC (n.487-20_487-19insGGCGGGATCTCGGCTCACTGCAAGC) c.584-20_584-19insGGCGGGATCTCGGCTCACTGCAAGC (n.584-20_584-19insGGCGGGATCTCGGCTCACTGCAAGC) c.*226-98_*226-97insGGCGGGATCTCGGCTCACTGCAAGC (n.*226-98_*226-97insGGCGGGATCTCGGCTCACTGCAAGC) c.74-98_74-97insGGCGGGATCTCGGCTCACTGCAAGC (n.74-98_74-97insGGCGGGATCTCGGCTCACTGCAAGC) n.252-98_252-97insGGCGGGATCTCGGCTCACTGCAAGC c.1757-98_1757-97insGGCGGGATCTCGGCTCACTGCAAGC (n.1757-98_1757-97insGGCGGGATCTCGGCTCACTGCAAGC) c.644-98_644-97insGGCGGGATCTCGGCTCACTGCAAGC (n.644-98_644-97insGGCGGGATCTCGGCTCACTGCAAGC) c.1739-98_1739-97insGGCGGGATCTCGGCTCACTGCAAGC (n.1739-98_1739-97insGGCGGGATCTCGGCTCACTGCAAGC) c.1454-98_1454-97insGGCGGGATCTCGGCTCACTGCAAGC (n.1454-98_1454-97insGGCGGGATCTCGGCTCACTGCAAGC) c.236-98_236-97insGGCGGGATCTCGGCTCACTGCAAGC (n.236-98_236-97insGGCGGGATCTCGGCTCACTGCAAGC) n.606-20_606-19insGGCGGGATCTCGGCTCACTGCAAGC | dbSNP gnomAD v2 |
17 | g.63488551T>A | CA985411497 | ACE | c.2306-97T>A (n.2306-97T>A) c.584-97T>A (n.584-97T>A) c.*376-97T>A (n.*376-97T>A) c.487-19T>A (n.487-19T>A) c.584-19T>A (n.584-19T>A) c.*226-97T>A (n.*226-97T>A) c.74-97T>A (n.74-97T>A) n.252-97T>A c.1757-97T>A (n.1757-97T>A) c.644-97T>A (n.644-97T>A) c.1739-97T>A (n.1739-97T>A) c.1454-97T>A (n.1454-97T>A) c.236-97T>A (n.236-97T>A) n.606-19T>A | gnomAD v3 gnomAD v4 |
17 | g.63488551T>C | CA627148157 | ACE | c.2306-97T>C (n.2306-97T>C) c.584-97T>C (n.584-97T>C) c.*376-97T>C (n.*376-97T>C) c.487-19T>C (n.487-19T>C) c.584-19T>C (n.584-19T>C) c.*226-97T>C (n.*226-97T>C) c.74-97T>C (n.74-97T>C) n.252-97T>C c.1757-97T>C (n.1757-97T>C) c.644-97T>C (n.644-97T>C) c.1739-97T>C (n.1739-97T>C) c.1454-97T>C (n.1454-97T>C) c.236-97T>C (n.236-97T>C) n.606-19T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488551T>G | CA627148156 | ACE | c.2306-97T>G (n.2306-97T>G) c.584-97T>G (n.584-97T>G) c.*376-97T>G (n.*376-97T>G) c.487-19T>G (n.487-19T>G) c.584-19T>G (n.584-19T>G) c.*226-97T>G (n.*226-97T>G) c.74-97T>G (n.74-97T>G) n.252-97T>G c.1757-97T>G (n.1757-97T>G) c.644-97T>G (n.644-97T>G) c.1739-97T>G (n.1739-97T>G) c.1454-97T>G (n.1454-97T>G) c.236-97T>G (n.236-97T>G) n.606-19T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488551T= | CA2269945862 | ACE | c.2306-97T= (n.2306-97T=) c.584-97T= (n.584-97T=) c.*376-97T= (n.*376-97T=) c.487-19T= (n.487-19T=) c.584-19T= (n.584-19T=) c.*226-97T= (n.*226-97T=) c.74-97T= (n.74-97T=) n.252-97T= c.1757-97T= (n.1757-97T=) c.644-97T= (n.644-97T=) c.1739-97T= (n.1739-97T=) c.1454-97T= (n.1454-97T=) c.236-97T= (n.236-97T=) n.606-19T= | |
17 | g.63488551_63488558delinsTTCGCCAA | CA2269945863 | ACE | c.2306-97_2306-90delinsTTCGCCAA (n.2306-97_2306-90delinsTTCGCCAA) c.584-97_584-90delinsTTCGCCAA (n.584-97_584-90delinsTTCGCCAA) c.*376-97_*376-90delinsTTCGCCAA (n.*376-97_*376-90delinsTTCGCCAA) c.487-19_487-12delinsTTCGCCAA (n.487-19_487-12delinsTTCGCCAA) c.584-19_584-12delinsTTCGCCAA (n.584-19_584-12delinsTTCGCCAA) c.*226-97_*226-90delinsTTCGCCAA (n.*226-97_*226-90delinsTTCGCCAA) c.74-97_74-90delinsTTCGCCAA (n.74-97_74-90delinsTTCGCCAA) n.252-97_252-90delinsTTCGCCAA c.1757-97_1757-90delinsTTCGCCAA (n.1757-97_1757-90delinsTTCGCCAA) c.644-97_644-90delinsTTCGCCAA (n.644-97_644-90delinsTTCGCCAA) c.1739-97_1739-90delinsTTCGCCAA (n.1739-97_1739-90delinsTTCGCCAA) c.1454-97_1454-90delinsTTCGCCAA (n.1454-97_1454-90delinsTTCGCCAA) c.236-97_236-90delinsTTCGCCAA (n.236-97_236-90delinsTTCGCCAA) n.606-19_606-12delinsTTCGCCAA | |
17 | g.63488551_63488552insC | CA2810114480 | ACE | c.2306-97_2306-96insC (n.2306-97_2306-96insC) c.584-97_584-96insC (n.584-97_584-96insC) c.*376-97_*376-96insC (n.*376-97_*376-96insC) c.487-19_487-18insC (n.487-19_487-18insC) c.584-19_584-18insC (n.584-19_584-18insC) c.*226-97_*226-96insC (n.*226-97_*226-96insC) c.74-97_74-96insC (n.74-97_74-96insC) n.252-97_252-96insC c.1757-97_1757-96insC (n.1757-97_1757-96insC) c.644-97_644-96insC (n.644-97_644-96insC) c.1739-97_1739-96insC (n.1739-97_1739-96insC) c.1454-97_1454-96insC (n.1454-97_1454-96insC) c.236-97_236-96insC (n.236-97_236-96insC) n.606-19_606-18insC | |
17 | g.63488552T>A | CA2810114479 | ACE | c.2306-96T>A (n.2306-96T>A) c.584-96T>A (n.584-96T>A) c.*376-96T>A (n.*376-96T>A) c.487-18T>A (n.487-18T>A) c.584-18T>A (n.584-18T>A) c.*226-96T>A (n.*226-96T>A) c.74-96T>A (n.74-96T>A) n.252-96T>A c.1757-96T>A (n.1757-96T>A) c.644-96T>A (n.644-96T>A) c.1739-96T>A (n.1739-96T>A) c.1454-96T>A (n.1454-96T>A) c.236-96T>A (n.236-96T>A) n.606-18T>A | |
17 | g.63488552T>C | CA2639263663 | ACE | c.2306-96T>C (n.2306-96T>C) c.584-96T>C (n.584-96T>C) c.*376-96T>C (n.*376-96T>C) c.487-18T>C (n.487-18T>C) c.584-18T>C (n.584-18T>C) c.*226-96T>C (n.*226-96T>C) c.74-96T>C (n.74-96T>C) n.252-96T>C c.1757-96T>C (n.1757-96T>C) c.644-96T>C (n.644-96T>C) c.1739-96T>C (n.1739-96T>C) c.1454-96T>C (n.1454-96T>C) c.236-96T>C (n.236-96T>C) n.606-18T>C | gnomAD v4 |
17 | g.63488552T= | CA2269945865 | ACE | c.2306-96T= (n.2306-96T=) c.584-96T= (n.584-96T=) c.*376-96T= (n.*376-96T=) c.487-18T= (n.487-18T=) c.584-18T= (n.584-18T=) c.*226-96T= (n.*226-96T=) c.74-96T= (n.74-96T=) n.252-96T= c.1757-96T= (n.1757-96T=) c.644-96T= (n.644-96T=) c.1739-96T= (n.1739-96T=) c.1454-96T= (n.1454-96T=) c.236-96T= (n.236-96T=) n.606-18T= | |
17 | g.63488552_63488553insTTGAGACGGAGT | CA2509640099 | ACE | c.2306-96_2306-95insTTGAGACGGAGT (n.2306-96_2306-95insTTGAGACGGAGT) c.584-96_584-95insTTGAGACGGAGT (n.584-96_584-95insTTGAGACGGAGT) c.*376-96_*376-95insTTGAGACGGAGT (n.*376-96_*376-95insTTGAGACGGAGT) c.487-18_487-17insTTGAGACGGAGT (n.487-18_487-17insTTGAGACGGAGT) c.584-18_584-17insTTGAGACGGAGT (n.584-18_584-17insTTGAGACGGAGT) c.*226-96_*226-95insTTGAGACGGAGT (n.*226-96_*226-95insTTGAGACGGAGT) c.74-96_74-95insTTGAGACGGAGT (n.74-96_74-95insTTGAGACGGAGT) n.252-96_252-95insTTGAGACGGAGT c.1757-96_1757-95insTTGAGACGGAGT (n.1757-96_1757-95insTTGAGACGGAGT) c.644-96_644-95insTTGAGACGGAGT (n.644-96_644-95insTTGAGACGGAGT) c.1739-96_1739-95insTTGAGACGGAGT (n.1739-96_1739-95insTTGAGACGGAGT) c.1454-96_1454-95insTTGAGACGGAGT (n.1454-96_1454-95insTTGAGACGGAGT) c.236-96_236-95insTTGAGACGGAGT (n.236-96_236-95insTTGAGACGGAGT) n.606-18_606-17insTTGAGACGGAGT | |
17 | g.63488552_63488553insTTTGAGACGGAGT | CA985411500 | ACE | c.2306-96_2306-95insTTTGAGACGGAGT (n.2306-96_2306-95insTTTGAGACGGAGT) c.584-96_584-95insTTTGAGACGGAGT (n.584-96_584-95insTTTGAGACGGAGT) c.*376-96_*376-95insTTTGAGACGGAGT (n.*376-96_*376-95insTTTGAGACGGAGT) c.487-18_487-17insTTTGAGACGGAGT (n.487-18_487-17insTTTGAGACGGAGT) c.584-18_584-17insTTTGAGACGGAGT (n.584-18_584-17insTTTGAGACGGAGT) c.*226-96_*226-95insTTTGAGACGGAGT (n.*226-96_*226-95insTTTGAGACGGAGT) c.74-96_74-95insTTTGAGACGGAGT (n.74-96_74-95insTTTGAGACGGAGT) n.252-96_252-95insTTTGAGACGGAGT c.1757-96_1757-95insTTTGAGACGGAGT (n.1757-96_1757-95insTTTGAGACGGAGT) c.644-96_644-95insTTTGAGACGGAGT (n.644-96_644-95insTTTGAGACGGAGT) c.1739-96_1739-95insTTTGAGACGGAGT (n.1739-96_1739-95insTTTGAGACGGAGT) c.1454-96_1454-95insTTTGAGACGGAGT (n.1454-96_1454-95insTTTGAGACGGAGT) c.236-96_236-95insTTTGAGACGGAGT (n.236-96_236-95insTTTGAGACGGAGT) n.606-18_606-17insTTTGAGACGGAGT | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488552_63488553insTTTTGAGACGGAGT | CA627148158 | ACE | c.2306-96_2306-95insTTTTGAGACGGAGT (n.2306-96_2306-95insTTTTGAGACGGAGT) c.584-96_584-95insTTTTGAGACGGAGT (n.584-96_584-95insTTTTGAGACGGAGT) c.*376-96_*376-95insTTTTGAGACGGAGT (n.*376-96_*376-95insTTTTGAGACGGAGT) c.487-18_487-17insTTTTGAGACGGAGT (n.487-18_487-17insTTTTGAGACGGAGT) c.584-18_584-17insTTTTGAGACGGAGT (n.584-18_584-17insTTTTGAGACGGAGT) c.*226-96_*226-95insTTTTGAGACGGAGT (n.*226-96_*226-95insTTTTGAGACGGAGT) c.74-96_74-95insTTTTGAGACGGAGT (n.74-96_74-95insTTTTGAGACGGAGT) n.252-96_252-95insTTTTGAGACGGAGT c.1757-96_1757-95insTTTTGAGACGGAGT (n.1757-96_1757-95insTTTTGAGACGGAGT) c.644-96_644-95insTTTTGAGACGGAGT (n.644-96_644-95insTTTTGAGACGGAGT) c.1739-96_1739-95insTTTTGAGACGGAGT (n.1739-96_1739-95insTTTTGAGACGGAGT) c.1454-96_1454-95insTTTTGAGACGGAGT (n.1454-96_1454-95insTTTTGAGACGGAGT) c.236-96_236-95insTTTTGAGACGGAGT (n.236-96_236-95insTTTTGAGACGGAGT) n.606-18_606-17insTTTTGAGACGGAGT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488552_63488553insTTTTTAGACGGAGT | CA2639263664 | ACE | c.2306-96_2306-95insTTTTTAGACGGAGT (n.2306-96_2306-95insTTTTTAGACGGAGT) c.584-96_584-95insTTTTTAGACGGAGT (n.584-96_584-95insTTTTTAGACGGAGT) c.*376-96_*376-95insTTTTTAGACGGAGT (n.*376-96_*376-95insTTTTTAGACGGAGT) c.487-18_487-17insTTTTTAGACGGAGT (n.487-18_487-17insTTTTTAGACGGAGT) c.584-18_584-17insTTTTTAGACGGAGT (n.584-18_584-17insTTTTTAGACGGAGT) c.*226-96_*226-95insTTTTTAGACGGAGT (n.*226-96_*226-95insTTTTTAGACGGAGT) c.74-96_74-95insTTTTTAGACGGAGT (n.74-96_74-95insTTTTTAGACGGAGT) n.252-96_252-95insTTTTTAGACGGAGT c.1757-96_1757-95insTTTTTAGACGGAGT (n.1757-96_1757-95insTTTTTAGACGGAGT) c.644-96_644-95insTTTTTAGACGGAGT (n.644-96_644-95insTTTTTAGACGGAGT) c.1739-96_1739-95insTTTTTAGACGGAGT (n.1739-96_1739-95insTTTTTAGACGGAGT) c.1454-96_1454-95insTTTTTAGACGGAGT (n.1454-96_1454-95insTTTTTAGACGGAGT) c.236-96_236-95insTTTTTAGACGGAGT (n.236-96_236-95insTTTTTAGACGGAGT) n.606-18_606-17insTTTTTAGACGGAGT | gnomAD v4 |
17 | g.63488552_63488553insTTTTTGAGACGGAGT | CA985411502 | ACE | c.2306-96_2306-95insTTTTTGAGACGGAGT (n.2306-96_2306-95insTTTTTGAGACGGAGT) c.584-96_584-95insTTTTTGAGACGGAGT (n.584-96_584-95insTTTTTGAGACGGAGT) c.*376-96_*376-95insTTTTTGAGACGGAGT (n.*376-96_*376-95insTTTTTGAGACGGAGT) c.487-18_487-17insTTTTTGAGACGGAGT (n.487-18_487-17insTTTTTGAGACGGAGT) c.584-18_584-17insTTTTTGAGACGGAGT (n.584-18_584-17insTTTTTGAGACGGAGT) c.*226-96_*226-95insTTTTTGAGACGGAGT (n.*226-96_*226-95insTTTTTGAGACGGAGT) c.74-96_74-95insTTTTTGAGACGGAGT (n.74-96_74-95insTTTTTGAGACGGAGT) n.252-96_252-95insTTTTTGAGACGGAGT c.1757-96_1757-95insTTTTTGAGACGGAGT (n.1757-96_1757-95insTTTTTGAGACGGAGT) c.644-96_644-95insTTTTTGAGACGGAGT (n.644-96_644-95insTTTTTGAGACGGAGT) c.1739-96_1739-95insTTTTTGAGACGGAGT (n.1739-96_1739-95insTTTTTGAGACGGAGT) c.1454-96_1454-95insTTTTTGAGACGGAGT (n.1454-96_1454-95insTTTTTGAGACGGAGT) c.236-96_236-95insTTTTTGAGACGGAGT (n.236-96_236-95insTTTTTGAGACGGAGT) n.606-18_606-17insTTTTTGAGACGGAGT | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488552_63488557delinsTCGCCA | CA2269945864 | ACE | c.2306-96_2306-91delinsTCGCCA (n.2306-96_2306-91delinsTCGCCA) c.584-96_584-91delinsTCGCCA (n.584-96_584-91delinsTCGCCA) c.*376-96_*376-91delinsTCGCCA (n.*376-96_*376-91delinsTCGCCA) c.487-18_487-13delinsTCGCCA (n.487-18_487-13delinsTCGCCA) c.584-18_584-13delinsTCGCCA (n.584-18_584-13delinsTCGCCA) c.*226-96_*226-91delinsTCGCCA (n.*226-96_*226-91delinsTCGCCA) c.74-96_74-91delinsTCGCCA (n.74-96_74-91delinsTCGCCA) n.252-96_252-91delinsTCGCCA c.1757-96_1757-91delinsTCGCCA (n.1757-96_1757-91delinsTCGCCA) c.644-96_644-91delinsTCGCCA (n.644-96_644-91delinsTCGCCA) c.1739-96_1739-91delinsTCGCCA (n.1739-96_1739-91delinsTCGCCA) c.1454-96_1454-91delinsTCGCCA (n.1454-96_1454-91delinsTCGCCA) c.236-96_236-91delinsTCGCCA (n.236-96_236-91delinsTCGCCA) n.606-18_606-13delinsTCGCCA | |
17 | g.63488552_63488558delinsTCGCCAA | CA2269945866 | ACE | c.2306-96_2306-90delinsTCGCCAA (n.2306-96_2306-90delinsTCGCCAA) c.584-96_584-90delinsTCGCCAA (n.584-96_584-90delinsTCGCCAA) c.*376-96_*376-90delinsTCGCCAA (n.*376-96_*376-90delinsTCGCCAA) c.487-18_487-12delinsTCGCCAA (n.487-18_487-12delinsTCGCCAA) c.584-18_584-12delinsTCGCCAA (n.584-18_584-12delinsTCGCCAA) c.*226-96_*226-90delinsTCGCCAA (n.*226-96_*226-90delinsTCGCCAA) c.74-96_74-90delinsTCGCCAA (n.74-96_74-90delinsTCGCCAA) n.252-96_252-90delinsTCGCCAA c.1757-96_1757-90delinsTCGCCAA (n.1757-96_1757-90delinsTCGCCAA) c.644-96_644-90delinsTCGCCAA (n.644-96_644-90delinsTCGCCAA) c.1739-96_1739-90delinsTCGCCAA (n.1739-96_1739-90delinsTCGCCAA) c.1454-96_1454-90delinsTCGCCAA (n.1454-96_1454-90delinsTCGCCAA) c.236-96_236-90delinsTCGCCAA (n.236-96_236-90delinsTCGCCAA) n.606-18_606-12delinsTCGCCAA | |
17 | g.63488553_63488559del | CA627148159 | ACE | c.2306-95_2306-89del (n.2306-95_2306-89del) c.584-95_584-89del (n.584-95_584-89del) c.*376-95_*376-89del (n.*376-95_*376-89del) c.487-17_487-11del (n.487-17_487-11del) c.584-17_584-11del (n.584-17_584-11del) c.*226-95_*226-89del (n.*226-95_*226-89del) c.74-95_74-89del (n.74-95_74-89del) n.252-95_252-89del c.1757-95_1757-89del (n.1757-95_1757-89del) c.644-95_644-89del (n.644-95_644-89del) c.1739-95_1739-89del (n.1739-95_1739-89del) c.1454-95_1454-89del (n.1454-95_1454-89del) c.236-95_236-89del (n.236-95_236-89del) n.606-17_606-11del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488552_63488553insTTGAGA | CA2639263670 | ACE | c.2306-96_2306-95insTTGAGA (n.2306-96_2306-95insTTGAGA) c.584-96_584-95insTTGAGA (n.584-96_584-95insTTGAGA) c.*376-96_*376-95insTTGAGA (n.*376-96_*376-95insTTGAGA) c.487-18_487-17insTTGAGA (n.487-18_487-17insTTGAGA) c.584-18_584-17insTTGAGA (n.584-18_584-17insTTGAGA) c.*226-96_*226-95insTTGAGA (n.*226-96_*226-95insTTGAGA) c.74-96_74-95insTTGAGA (n.74-96_74-95insTTGAGA) n.252-96_252-95insTTGAGA c.1757-96_1757-95insTTGAGA (n.1757-96_1757-95insTTGAGA) c.644-96_644-95insTTGAGA (n.644-96_644-95insTTGAGA) c.1739-96_1739-95insTTGAGA (n.1739-96_1739-95insTTGAGA) c.1454-96_1454-95insTTGAGA (n.1454-96_1454-95insTTGAGA) c.236-96_236-95insTTGAGA (n.236-96_236-95insTTGAGA) n.606-18_606-17insTTGAGA | gnomAD v4 |
17 | g.63488552_63488553insTTTGAGA | CA627148163 | ACE | c.2306-96_2306-95insTTTGAGA (n.2306-96_2306-95insTTTGAGA) c.584-96_584-95insTTTGAGA (n.584-96_584-95insTTTGAGA) c.*376-96_*376-95insTTTGAGA (n.*376-96_*376-95insTTTGAGA) c.487-18_487-17insTTTGAGA (n.487-18_487-17insTTTGAGA) c.584-18_584-17insTTTGAGA (n.584-18_584-17insTTTGAGA) c.*226-96_*226-95insTTTGAGA (n.*226-96_*226-95insTTTGAGA) c.74-96_74-95insTTTGAGA (n.74-96_74-95insTTTGAGA) n.252-96_252-95insTTTGAGA c.1757-96_1757-95insTTTGAGA (n.1757-96_1757-95insTTTGAGA) c.644-96_644-95insTTTGAGA (n.644-96_644-95insTTTGAGA) c.1739-96_1739-95insTTTGAGA (n.1739-96_1739-95insTTTGAGA) c.1454-96_1454-95insTTTGAGA (n.1454-96_1454-95insTTTGAGA) c.236-96_236-95insTTTGAGA (n.236-96_236-95insTTTGAGA) n.606-18_606-17insTTTGAGA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488552_63488553insTTTTAGA | CA2810114486 | ACE | c.2306-96_2306-95insTTTTAGA (n.2306-96_2306-95insTTTTAGA) c.584-96_584-95insTTTTAGA (n.584-96_584-95insTTTTAGA) c.*376-96_*376-95insTTTTAGA (n.*376-96_*376-95insTTTTAGA) c.487-18_487-17insTTTTAGA (n.487-18_487-17insTTTTAGA) c.584-18_584-17insTTTTAGA (n.584-18_584-17insTTTTAGA) c.*226-96_*226-95insTTTTAGA (n.*226-96_*226-95insTTTTAGA) c.74-96_74-95insTTTTAGA (n.74-96_74-95insTTTTAGA) n.252-96_252-95insTTTTAGA c.1757-96_1757-95insTTTTAGA (n.1757-96_1757-95insTTTTAGA) c.644-96_644-95insTTTTAGA (n.644-96_644-95insTTTTAGA) c.1739-96_1739-95insTTTTAGA (n.1739-96_1739-95insTTTTAGA) c.1454-96_1454-95insTTTTAGA (n.1454-96_1454-95insTTTTAGA) c.236-96_236-95insTTTTAGA (n.236-96_236-95insTTTTAGA) n.606-18_606-17insTTTTAGA | |
17 | g.63488552_63488553insTTTTGAGA | CA627148162 | ACE | c.2306-96_2306-95insTTTTGAGA (n.2306-96_2306-95insTTTTGAGA) c.584-96_584-95insTTTTGAGA (n.584-96_584-95insTTTTGAGA) c.*376-96_*376-95insTTTTGAGA (n.*376-96_*376-95insTTTTGAGA) c.487-18_487-17insTTTTGAGA (n.487-18_487-17insTTTTGAGA) c.584-18_584-17insTTTTGAGA (n.584-18_584-17insTTTTGAGA) c.*226-96_*226-95insTTTTGAGA (n.*226-96_*226-95insTTTTGAGA) c.74-96_74-95insTTTTGAGA (n.74-96_74-95insTTTTGAGA) n.252-96_252-95insTTTTGAGA c.1757-96_1757-95insTTTTGAGA (n.1757-96_1757-95insTTTTGAGA) c.644-96_644-95insTTTTGAGA (n.644-96_644-95insTTTTGAGA) c.1739-96_1739-95insTTTTGAGA (n.1739-96_1739-95insTTTTGAGA) c.1454-96_1454-95insTTTTGAGA (n.1454-96_1454-95insTTTTGAGA) c.236-96_236-95insTTTTGAGA (n.236-96_236-95insTTTTGAGA) n.606-18_606-17insTTTTGAGA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488552_63488553insTTTTTAAA | CA2810114482 | ACE | c.2306-96_2306-95insTTTTTAAA (n.2306-96_2306-95insTTTTTAAA) c.584-96_584-95insTTTTTAAA (n.584-96_584-95insTTTTTAAA) c.*376-96_*376-95insTTTTTAAA (n.*376-96_*376-95insTTTTTAAA) c.487-18_487-17insTTTTTAAA (n.487-18_487-17insTTTTTAAA) c.584-18_584-17insTTTTTAAA (n.584-18_584-17insTTTTTAAA) c.*226-96_*226-95insTTTTTAAA (n.*226-96_*226-95insTTTTTAAA) c.74-96_74-95insTTTTTAAA (n.74-96_74-95insTTTTTAAA) n.252-96_252-95insTTTTTAAA c.1757-96_1757-95insTTTTTAAA (n.1757-96_1757-95insTTTTTAAA) c.644-96_644-95insTTTTTAAA (n.644-96_644-95insTTTTTAAA) c.1739-96_1739-95insTTTTTAAA (n.1739-96_1739-95insTTTTTAAA) c.1454-96_1454-95insTTTTTAAA (n.1454-96_1454-95insTTTTTAAA) c.236-96_236-95insTTTTTAAA (n.236-96_236-95insTTTTTAAA) n.606-18_606-17insTTTTTAAA | |
17 | g.63488552_63488553insTTTTTAGA | CA2639263669 | ACE | c.2306-96_2306-95insTTTTTAGA (n.2306-96_2306-95insTTTTTAGA) c.584-96_584-95insTTTTTAGA (n.584-96_584-95insTTTTTAGA) c.*376-96_*376-95insTTTTTAGA (n.*376-96_*376-95insTTTTTAGA) c.487-18_487-17insTTTTTAGA (n.487-18_487-17insTTTTTAGA) c.584-18_584-17insTTTTTAGA (n.584-18_584-17insTTTTTAGA) c.*226-96_*226-95insTTTTTAGA (n.*226-96_*226-95insTTTTTAGA) c.74-96_74-95insTTTTTAGA (n.74-96_74-95insTTTTTAGA) n.252-96_252-95insTTTTTAGA c.1757-96_1757-95insTTTTTAGA (n.1757-96_1757-95insTTTTTAGA) c.644-96_644-95insTTTTTAGA (n.644-96_644-95insTTTTTAGA) c.1739-96_1739-95insTTTTTAGA (n.1739-96_1739-95insTTTTTAGA) c.1454-96_1454-95insTTTTTAGA (n.1454-96_1454-95insTTTTTAGA) c.236-96_236-95insTTTTTAGA (n.236-96_236-95insTTTTTAGA) n.606-18_606-17insTTTTTAGA | gnomAD v4 |
17 | g.63488552_63488553insTTTTTGAGA | CA627148160 | ACE | c.2306-96_2306-95insTTTTTGAGA (n.2306-96_2306-95insTTTTTGAGA) c.584-96_584-95insTTTTTGAGA (n.584-96_584-95insTTTTTGAGA) c.*376-96_*376-95insTTTTTGAGA (n.*376-96_*376-95insTTTTTGAGA) c.487-18_487-17insTTTTTGAGA (n.487-18_487-17insTTTTTGAGA) c.584-18_584-17insTTTTTGAGA (n.584-18_584-17insTTTTTGAGA) c.*226-96_*226-95insTTTTTGAGA (n.*226-96_*226-95insTTTTTGAGA) c.74-96_74-95insTTTTTGAGA (n.74-96_74-95insTTTTTGAGA) n.252-96_252-95insTTTTTGAGA c.1757-96_1757-95insTTTTTGAGA (n.1757-96_1757-95insTTTTTGAGA) c.644-96_644-95insTTTTTGAGA (n.644-96_644-95insTTTTTGAGA) c.1739-96_1739-95insTTTTTGAGA (n.1739-96_1739-95insTTTTTGAGA) c.1454-96_1454-95insTTTTTGAGA (n.1454-96_1454-95insTTTTTGAGA) c.236-96_236-95insTTTTTGAGA (n.236-96_236-95insTTTTTGAGA) n.606-18_606-17insTTTTTGAGA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488552_63488553insTTTTTTAGA | CA2639263667 | ACE | c.2306-96_2306-95insTTTTTTAGA (n.2306-96_2306-95insTTTTTTAGA) c.584-96_584-95insTTTTTTAGA (n.584-96_584-95insTTTTTTAGA) c.*376-96_*376-95insTTTTTTAGA (n.*376-96_*376-95insTTTTTTAGA) c.487-18_487-17insTTTTTTAGA (n.487-18_487-17insTTTTTTAGA) c.584-18_584-17insTTTTTTAGA (n.584-18_584-17insTTTTTTAGA) c.*226-96_*226-95insTTTTTTAGA (n.*226-96_*226-95insTTTTTTAGA) c.74-96_74-95insTTTTTTAGA (n.74-96_74-95insTTTTTTAGA) n.252-96_252-95insTTTTTTAGA c.1757-96_1757-95insTTTTTTAGA (n.1757-96_1757-95insTTTTTTAGA) c.644-96_644-95insTTTTTTAGA (n.644-96_644-95insTTTTTTAGA) c.1739-96_1739-95insTTTTTTAGA (n.1739-96_1739-95insTTTTTTAGA) c.1454-96_1454-95insTTTTTTAGA (n.1454-96_1454-95insTTTTTTAGA) c.236-96_236-95insTTTTTTAGA (n.236-96_236-95insTTTTTTAGA) n.606-18_606-17insTTTTTTAGA | gnomAD v4 |
17 | g.63488552_63488553insTTTTTTGAGA | CA2639263666 | ACE | c.2306-96_2306-95insTTTTTTGAGA (n.2306-96_2306-95insTTTTTTGAGA) c.584-96_584-95insTTTTTTGAGA (n.584-96_584-95insTTTTTTGAGA) c.*376-96_*376-95insTTTTTTGAGA (n.*376-96_*376-95insTTTTTTGAGA) c.487-18_487-17insTTTTTTGAGA (n.487-18_487-17insTTTTTTGAGA) c.584-18_584-17insTTTTTTGAGA (n.584-18_584-17insTTTTTTGAGA) c.*226-96_*226-95insTTTTTTGAGA (n.*226-96_*226-95insTTTTTTGAGA) c.74-96_74-95insTTTTTTGAGA (n.74-96_74-95insTTTTTTGAGA) n.252-96_252-95insTTTTTTGAGA c.1757-96_1757-95insTTTTTTGAGA (n.1757-96_1757-95insTTTTTTGAGA) c.644-96_644-95insTTTTTTGAGA (n.644-96_644-95insTTTTTTGAGA) c.1739-96_1739-95insTTTTTTGAGA (n.1739-96_1739-95insTTTTTTGAGA) c.1454-96_1454-95insTTTTTTGAGA (n.1454-96_1454-95insTTTTTTGAGA) c.236-96_236-95insTTTTTTGAGA (n.236-96_236-95insTTTTTTGAGA) n.606-18_606-17insTTTTTTGAGA | gnomAD v4 |
17 | g.63488552_63488553insTTTTGAGACGGAGTCTCA | CA2810114484 | ACE | c.2306-96_2306-95insTTTTGAGACGGAGTCTCA (n.2306-96_2306-95insTTTTGAGACGGAGTCTCA) c.584-96_584-95insTTTTGAGACGGAGTCTCA (n.584-96_584-95insTTTTGAGACGGAGTCTCA) c.*376-96_*376-95insTTTTGAGACGGAGTCTCA (n.*376-96_*376-95insTTTTGAGACGGAGTCTCA) c.487-18_487-17insTTTTGAGACGGAGTCTCA (n.487-18_487-17insTTTTGAGACGGAGTCTCA) c.584-18_584-17insTTTTGAGACGGAGTCTCA (n.584-18_584-17insTTTTGAGACGGAGTCTCA) c.*226-96_*226-95insTTTTGAGACGGAGTCTCA (n.*226-96_*226-95insTTTTGAGACGGAGTCTCA) c.74-96_74-95insTTTTGAGACGGAGTCTCA (n.74-96_74-95insTTTTGAGACGGAGTCTCA) n.252-96_252-95insTTTTGAGACGGAGTCTCA c.1757-96_1757-95insTTTTGAGACGGAGTCTCA (n.1757-96_1757-95insTTTTGAGACGGAGTCTCA) c.644-96_644-95insTTTTGAGACGGAGTCTCA (n.644-96_644-95insTTTTGAGACGGAGTCTCA) c.1739-96_1739-95insTTTTGAGACGGAGTCTCA (n.1739-96_1739-95insTTTTGAGACGGAGTCTCA) c.1454-96_1454-95insTTTTGAGACGGAGTCTCA (n.1454-96_1454-95insTTTTGAGACGGAGTCTCA) c.236-96_236-95insTTTTGAGACGGAGTCTCA (n.236-96_236-95insTTTTGAGACGGAGTCTCA) n.606-18_606-17insTTTTGAGACGGAGTCTCA | |
17 | g.63488552_63488553insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG | CA985411521 | ACE | c.2306-96_2306-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.2306-96_2306-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.584-96_584-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.584-96_584-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.*376-96_*376-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.*376-96_*376-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.487-18_487-17insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.487-18_487-17insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.584-18_584-17insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.584-18_584-17insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.*226-96_*226-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.*226-96_*226-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.74-96_74-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.74-96_74-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) n.252-96_252-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG c.1757-96_1757-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.1757-96_1757-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.644-96_644-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.644-96_644-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.1739-96_1739-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.1739-96_1739-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.1454-96_1454-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.1454-96_1454-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.236-96_236-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.236-96_236-95insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) n.606-18_606-17insTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG | gnomAD v3 gnomAD v4 |
17 | g.63488552_63488553insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG | CA627148161 | ACE | c.2306-96_2306-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.2306-96_2306-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.584-96_584-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.584-96_584-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.*376-96_*376-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.*376-96_*376-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.487-18_487-17insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.487-18_487-17insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.584-18_584-17insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.584-18_584-17insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.*226-96_*226-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.*226-96_*226-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.74-96_74-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.74-96_74-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) n.252-96_252-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG c.1757-96_1757-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.1757-96_1757-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.644-96_644-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.644-96_644-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.1739-96_1739-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.1739-96_1739-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.1454-96_1454-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.1454-96_1454-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.236-96_236-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.236-96_236-95insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) n.606-18_606-17insTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488552_63488553insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG | CA2639263668 | ACE | c.2306-96_2306-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG (n.2306-96_2306-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG) c.584-96_584-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG (n.584-96_584-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG) c.*376-96_*376-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG (n.*376-96_*376-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG) c.487-18_487-17insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG (n.487-18_487-17insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG) c.584-18_584-17insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG (n.584-18_584-17insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG) c.*226-96_*226-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG (n.*226-96_*226-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG) c.74-96_74-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG (n.74-96_74-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG) n.252-96_252-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG c.1757-96_1757-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG (n.1757-96_1757-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG) c.644-96_644-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG (n.644-96_644-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG) c.1739-96_1739-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG (n.1739-96_1739-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG) c.1454-96_1454-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG (n.1454-96_1454-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG) c.236-96_236-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG (n.236-96_236-95insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG) n.606-18_606-17insTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGG | gnomAD v4 |
17 | g.63488552_63488553insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG | CA985411516 | ACE | c.2306-96_2306-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.2306-96_2306-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.584-96_584-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.584-96_584-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.*376-96_*376-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.*376-96_*376-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.487-18_487-17insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.487-18_487-17insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.584-18_584-17insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.584-18_584-17insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.*226-96_*226-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.*226-96_*226-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.74-96_74-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.74-96_74-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) n.252-96_252-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG c.1757-96_1757-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.1757-96_1757-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.644-96_644-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.644-96_644-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.1739-96_1739-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.1739-96_1739-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.1454-96_1454-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.1454-96_1454-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) c.236-96_236-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG (n.236-96_236-95insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG) n.606-18_606-17insTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488553C>A | CA2639263665 | ACE | c.2306-95C>A (n.2306-95C>A) c.584-95C>A (n.584-95C>A) c.*376-95C>A (n.*376-95C>A) c.487-17C>A (n.487-17C>A) c.584-17C>A (n.584-17C>A) c.*226-95C>A (n.*226-95C>A) c.74-95C>A (n.74-95C>A) n.252-95C>A c.1757-95C>A (n.1757-95C>A) c.644-95C>A (n.644-95C>A) c.1739-95C>A (n.1739-95C>A) c.1454-95C>A (n.1454-95C>A) c.236-95C>A (n.236-95C>A) n.606-17C>A | dbSNP gnomAD v4 |
17 | g.63488553C= | CA2269945867 | ACE | c.2306-95C= (n.2306-95C=) c.584-95C= (n.584-95C=) c.*376-95C= (n.*376-95C=) c.487-17C= (n.487-17C=) c.584-17C= (n.584-17C=) c.*226-95C= (n.*226-95C=) c.74-95C= (n.74-95C=) n.252-95C= c.1757-95C= (n.1757-95C=) c.644-95C= (n.644-95C=) c.1739-95C= (n.1739-95C=) c.1454-95C= (n.1454-95C=) c.236-95C= (n.236-95C=) n.606-17C= | |
17 | g.63488553C>G | CA8700027 | ACE | c.2306-95C>G (n.2306-95C>G) c.584-95C>G (n.584-95C>G) c.*376-95C>G (n.*376-95C>G) c.487-17C>G (n.487-17C>G) c.584-17C>G (n.584-17C>G) c.*226-95C>G (n.*226-95C>G) c.74-95C>G (n.74-95C>G) n.252-95C>G c.1757-95C>G (n.1757-95C>G) c.644-95C>G (n.644-95C>G) c.1739-95C>G (n.1739-95C>G) c.1454-95C>G (n.1454-95C>G) c.236-95C>G (n.236-95C>G) n.606-17C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63488553C>T | CA8700026 | ACE | c.2306-95C>T (n.2306-95C>T) c.584-95C>T (n.584-95C>T) c.*376-95C>T (n.*376-95C>T) c.487-17C>T (n.487-17C>T) c.584-17C>T (n.584-17C>T) c.*226-95C>T (n.*226-95C>T) c.74-95C>T (n.74-95C>T) n.252-95C>T c.1757-95C>T (n.1757-95C>T) c.644-95C>T (n.644-95C>T) c.1739-95C>T (n.1739-95C>T) c.1454-95C>T (n.1454-95C>T) c.236-95C>T (n.236-95C>T) n.606-17C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63488554_63488555insGCTCACTGCAAGCTCCGCCTCCCG | CA2810114488 | ACE | c.2306-94_2306-93insGCTCACTGCAAGCTCCGCCTCCCG (n.2306-94_2306-93insGCTCACTGCAAGCTCCGCCTCCCG) c.584-94_584-93insGCTCACTGCAAGCTCCGCCTCCCG (n.584-94_584-93insGCTCACTGCAAGCTCCGCCTCCCG) c.*376-94_*376-93insGCTCACTGCAAGCTCCGCCTCCCG (n.*376-94_*376-93insGCTCACTGCAAGCTCCGCCTCCCG) c.487-16_487-15insGCTCACTGCAAGCTCCGCCTCCCG (n.487-16_487-15insGCTCACTGCAAGCTCCGCCTCCCG) c.584-16_584-15insGCTCACTGCAAGCTCCGCCTCCCG (n.584-16_584-15insGCTCACTGCAAGCTCCGCCTCCCG) c.*226-94_*226-93insGCTCACTGCAAGCTCCGCCTCCCG (n.*226-94_*226-93insGCTCACTGCAAGCTCCGCCTCCCG) c.74-94_74-93insGCTCACTGCAAGCTCCGCCTCCCG (n.74-94_74-93insGCTCACTGCAAGCTCCGCCTCCCG) n.252-94_252-93insGCTCACTGCAAGCTCCGCCTCCCG c.1757-94_1757-93insGCTCACTGCAAGCTCCGCCTCCCG (n.1757-94_1757-93insGCTCACTGCAAGCTCCGCCTCCCG) c.644-94_644-93insGCTCACTGCAAGCTCCGCCTCCCG (n.644-94_644-93insGCTCACTGCAAGCTCCGCCTCCCG) c.1739-94_1739-93insGCTCACTGCAAGCTCCGCCTCCCG (n.1739-94_1739-93insGCTCACTGCAAGCTCCGCCTCCCG) c.1454-94_1454-93insGCTCACTGCAAGCTCCGCCTCCCG (n.1454-94_1454-93insGCTCACTGCAAGCTCCGCCTCCCG) c.236-94_236-93insGCTCACTGCAAGCTCCGCCTCCCG (n.236-94_236-93insGCTCACTGCAAGCTCCGCCTCCCG) n.606-16_606-15insGCTCACTGCAAGCTCCGCCTCCCG | |
17 | g.63488553_63488557del | CA627148164 | ACE | c.2306-95_2306-91del (n.2306-95_2306-91del) c.584-95_584-91del (n.584-95_584-91del) c.*376-95_*376-91del (n.*376-95_*376-91del) c.487-17_487-13del (n.487-17_487-13del) c.584-17_584-13del (n.584-17_584-13del) c.*226-95_*226-91del (n.*226-95_*226-91del) c.74-95_74-91del (n.74-95_74-91del) n.252-95_252-91del c.1757-95_1757-91del (n.1757-95_1757-91del) c.644-95_644-91del (n.644-95_644-91del) c.1739-95_1739-91del (n.1739-95_1739-91del) c.1454-95_1454-91del (n.1454-95_1454-91del) c.236-95_236-91del (n.236-95_236-91del) n.606-17_606-13del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488553_63488558del | CA8700025 | ACE | c.2306-95_2306-90del (n.2306-95_2306-90del) c.584-95_584-90del (n.584-95_584-90del) c.*376-95_*376-90del (n.*376-95_*376-90del) c.487-17_487-12del (n.487-17_487-12del) c.584-17_584-12del (n.584-17_584-12del) c.*226-95_*226-90del (n.*226-95_*226-90del) c.74-95_74-90del (n.74-95_74-90del) n.252-95_252-90del c.1757-95_1757-90del (n.1757-95_1757-90del) c.644-95_644-90del (n.644-95_644-90del) c.1739-95_1739-90del (n.1739-95_1739-90del) c.1454-95_1454-90del (n.1454-95_1454-90del) c.236-95_236-90del (n.236-95_236-90del) n.606-17_606-12del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488554G>A | CA8700028 | ACE | c.2306-94G>A (n.2306-94G>A) c.584-94G>A (n.584-94G>A) c.*376-94G>A (n.*376-94G>A) c.487-16G>A (n.487-16G>A) c.584-16G>A (n.584-16G>A) c.*226-94G>A (n.*226-94G>A) c.74-94G>A (n.74-94G>A) n.252-94G>A c.1757-94G>A (n.1757-94G>A) c.644-94G>A (n.644-94G>A) c.1739-94G>A (n.1739-94G>A) c.1454-94G>A (n.1454-94G>A) c.236-94G>A (n.236-94G>A) n.606-16G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63488554G>C | CA985411530 | ACE | c.2306-94G>C (n.2306-94G>C) c.584-94G>C (n.584-94G>C) c.*376-94G>C (n.*376-94G>C) c.487-16G>C (n.487-16G>C) c.584-16G>C (n.584-16G>C) c.*226-94G>C (n.*226-94G>C) c.74-94G>C (n.74-94G>C) n.252-94G>C c.1757-94G>C (n.1757-94G>C) c.644-94G>C (n.644-94G>C) c.1739-94G>C (n.1739-94G>C) c.1454-94G>C (n.1454-94G>C) c.236-94G>C (n.236-94G>C) n.606-16G>C | gnomAD v3 gnomAD v4 |
17 | g.63488554G= | CA2269945868 | ACE | c.2306-94G= (n.2306-94G=) c.584-94G= (n.584-94G=) c.*376-94G= (n.*376-94G=) c.487-16G= (n.487-16G=) c.584-16G= (n.584-16G=) c.*226-94G= (n.*226-94G=) c.74-94G= (n.74-94G=) n.252-94G= c.1757-94G= (n.1757-94G=) c.644-94G= (n.644-94G=) c.1739-94G= (n.1739-94G=) c.1454-94G= (n.1454-94G=) c.236-94G= (n.236-94G=) n.606-16G= | |
17 | g.63488554G>T | CA2639263671 | ACE | c.2306-94G>T (n.2306-94G>T) c.584-94G>T (n.584-94G>T) c.*376-94G>T (n.*376-94G>T) c.487-16G>T (n.487-16G>T) c.584-16G>T (n.584-16G>T) c.*226-94G>T (n.*226-94G>T) c.74-94G>T (n.74-94G>T) n.252-94G>T c.1757-94G>T (n.1757-94G>T) c.644-94G>T (n.644-94G>T) c.1739-94G>T (n.1739-94G>T) c.1454-94G>T (n.1454-94G>T) c.236-94G>T (n.236-94G>T) n.606-16G>T | gnomAD v4 |
17 | g.63488555_63488556insTCTGTCGCCCAGGC | CA985411527 | ACE | c.2306-93_2306-92insTCTGTCGCCCAGGC (n.2306-93_2306-92insTCTGTCGCCCAGGC) c.584-93_584-92insTCTGTCGCCCAGGC (n.584-93_584-92insTCTGTCGCCCAGGC) c.*376-93_*376-92insTCTGTCGCCCAGGC (n.*376-93_*376-92insTCTGTCGCCCAGGC) c.487-15_487-14insTCTGTCGCCCAGGC (n.487-15_487-14insTCTGTCGCCCAGGC) c.584-15_584-14insTCTGTCGCCCAGGC (n.584-15_584-14insTCTGTCGCCCAGGC) c.*226-93_*226-92insTCTGTCGCCCAGGC (n.*226-93_*226-92insTCTGTCGCCCAGGC) c.74-93_74-92insTCTGTCGCCCAGGC (n.74-93_74-92insTCTGTCGCCCAGGC) n.252-93_252-92insTCTGTCGCCCAGGC c.1757-93_1757-92insTCTGTCGCCCAGGC (n.1757-93_1757-92insTCTGTCGCCCAGGC) c.644-93_644-92insTCTGTCGCCCAGGC (n.644-93_644-92insTCTGTCGCCCAGGC) c.1739-93_1739-92insTCTGTCGCCCAGGC (n.1739-93_1739-92insTCTGTCGCCCAGGC) c.1454-93_1454-92insTCTGTCGCCCAGGC (n.1454-93_1454-92insTCTGTCGCCCAGGC) c.236-93_236-92insTCTGTCGCCCAGGC (n.236-93_236-92insTCTGTCGCCCAGGC) n.606-15_606-14insTCTGTCGCCCAGGC | gnomAD v3 gnomAD v4 |
17 | g.63488555C>A | CA2639263672 | ACE | c.2306-93C>A (n.2306-93C>A) c.584-93C>A (n.584-93C>A) c.*376-93C>A (n.*376-93C>A) c.487-15C>A (n.487-15C>A) c.584-15C>A (n.584-15C>A) c.*226-93C>A (n.*226-93C>A) c.74-93C>A (n.74-93C>A) n.252-93C>A c.1757-93C>A (n.1757-93C>A) c.644-93C>A (n.644-93C>A) c.1739-93C>A (n.1739-93C>A) c.1454-93C>A (n.1454-93C>A) c.236-93C>A (n.236-93C>A) n.606-15C>A | gnomAD v4 |
17 | g.63488555_63488556insTCTGTCCCC | CA2810114490 | ACE | c.2306-93_2306-92insTCTGTCCCC (n.2306-93_2306-92insTCTGTCCCC) c.584-93_584-92insTCTGTCCCC (n.584-93_584-92insTCTGTCCCC) c.*376-93_*376-92insTCTGTCCCC (n.*376-93_*376-92insTCTGTCCCC) c.487-15_487-14insTCTGTCCCC (n.487-15_487-14insTCTGTCCCC) c.584-15_584-14insTCTGTCCCC (n.584-15_584-14insTCTGTCCCC) c.*226-93_*226-92insTCTGTCCCC (n.*226-93_*226-92insTCTGTCCCC) c.74-93_74-92insTCTGTCCCC (n.74-93_74-92insTCTGTCCCC) n.252-93_252-92insTCTGTCCCC c.1757-93_1757-92insTCTGTCCCC (n.1757-93_1757-92insTCTGTCCCC) c.644-93_644-92insTCTGTCCCC (n.644-93_644-92insTCTGTCCCC) c.1739-93_1739-92insTCTGTCCCC (n.1739-93_1739-92insTCTGTCCCC) c.1454-93_1454-92insTCTGTCCCC (n.1454-93_1454-92insTCTGTCCCC) c.236-93_236-92insTCTGTCCCC (n.236-93_236-92insTCTGTCCCC) n.606-15_606-14insTCTGTCCCC | |
17 | g.63488555_63488556insTCTGTCGCCC | CA2596708450 | ACE | c.2306-93_2306-92insTCTGTCGCCC (n.2306-93_2306-92insTCTGTCGCCC) c.584-93_584-92insTCTGTCGCCC (n.584-93_584-92insTCTGTCGCCC) c.*376-93_*376-92insTCTGTCGCCC (n.*376-93_*376-92insTCTGTCGCCC) c.487-15_487-14insTCTGTCGCCC (n.487-15_487-14insTCTGTCGCCC) c.584-15_584-14insTCTGTCGCCC (n.584-15_584-14insTCTGTCGCCC) c.*226-93_*226-92insTCTGTCGCCC (n.*226-93_*226-92insTCTGTCGCCC) c.74-93_74-92insTCTGTCGCCC (n.74-93_74-92insTCTGTCGCCC) n.252-93_252-92insTCTGTCGCCC c.1757-93_1757-92insTCTGTCGCCC (n.1757-93_1757-92insTCTGTCGCCC) c.644-93_644-92insTCTGTCGCCC (n.644-93_644-92insTCTGTCGCCC) c.1739-93_1739-92insTCTGTCGCCC (n.1739-93_1739-92insTCTGTCGCCC) c.1454-93_1454-92insTCTGTCGCCC (n.1454-93_1454-92insTCTGTCGCCC) c.236-93_236-92insTCTGTCGCCC (n.236-93_236-92insTCTGTCGCCC) n.606-15_606-14insTCTGTCGCCC | gnomAD v3 gnomAD v4 |
17 | g.63488556C>A | CA2576350611 | ACE | c.2306-92C>A (n.2306-92C>A) c.584-92C>A (n.584-92C>A) c.*376-92C>A (n.*376-92C>A) c.487-14C>A (n.487-14C>A) c.584-14C>A (n.584-14C>A) c.*226-92C>A (n.*226-92C>A) c.74-92C>A (n.74-92C>A) n.252-92C>A c.1757-92C>A (n.1757-92C>A) c.644-92C>A (n.644-92C>A) c.1739-92C>A (n.1739-92C>A) c.1454-92C>A (n.1454-92C>A) c.236-92C>A (n.236-92C>A) n.606-14C>A | gnomAD v4 |
17 | g.63488556C= | CA2269945869 | ACE | c.2306-92C= (n.2306-92C=) c.584-92C= (n.584-92C=) c.*376-92C= (n.*376-92C=) c.487-14C= (n.487-14C=) c.584-14C= (n.584-14C=) c.*226-92C= (n.*226-92C=) c.74-92C= (n.74-92C=) n.252-92C= c.1757-92C= (n.1757-92C=) c.644-92C= (n.644-92C=) c.1739-92C= (n.1739-92C=) c.1454-92C= (n.1454-92C=) c.236-92C= (n.236-92C=) n.606-14C= | |
17 | g.63488556C>T | CA627148165 | ACE | c.2306-92C>T (n.2306-92C>T) c.584-92C>T (n.584-92C>T) c.*376-92C>T (n.*376-92C>T) c.487-14C>T (n.487-14C>T) c.584-14C>T (n.584-14C>T) c.*226-92C>T (n.*226-92C>T) c.74-92C>T (n.74-92C>T) n.252-92C>T c.1757-92C>T (n.1757-92C>T) c.644-92C>T (n.644-92C>T) c.1739-92C>T (n.1739-92C>T) c.1454-92C>T (n.1454-92C>T) c.236-92C>T (n.236-92C>T) n.606-14C>T | dbSNP gnomAD v2 |
17 | g.63488557A= | CA2269945870 | ACE | c.2306-91A= (n.2306-91A=) c.584-91A= (n.584-91A=) c.*376-91A= (n.*376-91A=) c.487-13A= (n.487-13A=) c.584-13A= (n.584-13A=) c.*226-91A= (n.*226-91A=) c.74-91A= (n.74-91A=) n.252-91A= c.1757-91A= (n.1757-91A=) c.644-91A= (n.644-91A=) c.1739-91A= (n.1739-91A=) c.1454-91A= (n.1454-91A=) c.236-91A= (n.236-91A=) n.606-13A= | |
17 | g.63488557A>C | CA627148166 | ACE | c.2306-91A>C (n.2306-91A>C) c.584-91A>C (n.584-91A>C) c.*376-91A>C (n.*376-91A>C) c.487-13A>C (n.487-13A>C) c.584-13A>C (n.584-13A>C) c.*226-91A>C (n.*226-91A>C) c.74-91A>C (n.74-91A>C) n.252-91A>C c.1757-91A>C (n.1757-91A>C) c.644-91A>C (n.644-91A>C) c.1739-91A>C (n.1739-91A>C) c.1454-91A>C (n.1454-91A>C) c.236-91A>C (n.236-91A>C) n.606-13A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488558A= | CA2269945871 | ACE | c.2306-90A= (n.2306-90A=) c.584-90A= (n.584-90A=) c.*376-90A= (n.*376-90A=) c.487-12A= (n.487-12A=) c.584-12A= (n.584-12A=) c.*226-90A= (n.*226-90A=) c.74-90A= (n.74-90A=) n.252-90A= c.1757-90A= (n.1757-90A=) c.644-90A= (n.644-90A=) c.1739-90A= (n.1739-90A=) c.1454-90A= (n.1454-90A=) c.236-90A= (n.236-90A=) n.606-12A= | |
17 | g.63488558A>G | CA8700029 | ACE | c.2306-90A>G (n.2306-90A>G) c.584-90A>G (n.584-90A>G) c.*376-90A>G (n.*376-90A>G) c.487-12A>G (n.487-12A>G) c.584-12A>G (n.584-12A>G) c.*226-90A>G (n.*226-90A>G) c.74-90A>G (n.74-90A>G) n.252-90A>G c.1757-90A>G (n.1757-90A>G) c.644-90A>G (n.644-90A>G) c.1739-90A>G (n.1739-90A>G) c.1454-90A>G (n.1454-90A>G) c.236-90A>G (n.236-90A>G) n.606-12A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488558A>T | CA627148167 | ACE | c.2306-90A>T (n.2306-90A>T) c.584-90A>T (n.584-90A>T) c.*376-90A>T (n.*376-90A>T) c.487-12A>T (n.487-12A>T) c.584-12A>T (n.584-12A>T) c.*226-90A>T (n.*226-90A>T) c.74-90A>T (n.74-90A>T) n.252-90A>T c.1757-90A>T (n.1757-90A>T) c.644-90A>T (n.644-90A>T) c.1739-90A>T (n.1739-90A>T) c.1454-90A>T (n.1454-90A>T) c.236-90A>T (n.236-90A>T) n.606-12A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488559T>C | CA2576350612 | ACE | c.2306-89T>C (n.2306-89T>C) c.584-89T>C (n.584-89T>C) c.*376-89T>C (n.*376-89T>C) c.487-11T>C (n.487-11T>C) c.584-11T>C (n.584-11T>C) c.*226-89T>C (n.*226-89T>C) c.74-89T>C (n.74-89T>C) n.252-89T>C c.1757-89T>C (n.1757-89T>C) c.644-89T>C (n.644-89T>C) c.1739-89T>C (n.1739-89T>C) c.1454-89T>C (n.1454-89T>C) c.236-89T>C (n.236-89T>C) n.606-11T>C | gnomAD v4 |
17 | g.63488561T>G | CA773966968 | ACE | c.2306-87T>G (n.2306-87T>G) c.584-87T>G (n.584-87T>G) c.*376-87T>G (n.*376-87T>G) c.487-9T>G (n.487-9T>G) c.584-9T>G (n.584-9T>G) c.*226-87T>G (n.*226-87T>G) c.74-87T>G (n.74-87T>G) n.252-87T>G c.1757-87T>G (n.1757-87T>G) c.644-87T>G (n.644-87T>G) c.1739-87T>G (n.1739-87T>G) c.1454-87T>G (n.1454-87T>G) c.236-87T>G (n.236-87T>G) n.606-9T>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488561T= | CA2269945872 | ACE | c.2306-87T= (n.2306-87T=) c.584-87T= (n.584-87T=) c.*376-87T= (n.*376-87T=) c.487-9T= (n.487-9T=) c.584-9T= (n.584-9T=) c.*226-87T= (n.*226-87T=) c.74-87T= (n.74-87T=) n.252-87T= c.1757-87T= (n.1757-87T=) c.644-87T= (n.644-87T=) c.1739-87T= (n.1739-87T=) c.1454-87T= (n.1454-87T=) c.236-87T= (n.236-87T=) n.606-9T= | |
17 | g.63488562_63488563delinsTA | CA2269945873 | ACE | c.2306-86_2306-85delinsTA (n.2306-86_2306-85delinsTA) c.584-86_584-85delinsTA (n.584-86_584-85delinsTA) c.*376-86_*376-85delinsTA (n.*376-86_*376-85delinsTA) c.487-8_487-7delinsTA (n.487-8_487-7delinsTA) c.584-8_584-7delinsTA (n.584-8_584-7delinsTA) c.*226-86_*226-85delinsTA (n.*226-86_*226-85delinsTA) c.74-86_74-85delinsTA (n.74-86_74-85delinsTA) n.252-86_252-85delinsTA c.1757-86_1757-85delinsTA (n.1757-86_1757-85delinsTA) c.644-86_644-85delinsTA (n.644-86_644-85delinsTA) c.1739-86_1739-85delinsTA (n.1739-86_1739-85delinsTA) c.1454-86_1454-85delinsTA (n.1454-86_1454-85delinsTA) c.236-86_236-85delinsTA (n.236-86_236-85delinsTA) n.606-8_606-7delinsTA | |
17 | g.63488563del | CA627148168 | ACE | c.2306-85del (n.2306-85del) c.584-85del (n.584-85del) c.*376-85del (n.*376-85del) c.487-7del (n.487-7del) c.584-7del (n.584-7del) c.*226-85del (n.*226-85del) c.74-85del (n.74-85del) n.252-85del c.1757-85del (n.1757-85del) c.644-85del (n.644-85del) c.1739-85del (n.1739-85del) c.1454-85del (n.1454-85del) c.236-85del (n.236-85del) n.606-7del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488563A= | CA2269945874 | ACE | c.2306-85A= (n.2306-85A=) c.584-85A= (n.584-85A=) c.*376-85A= (n.*376-85A=) c.487-7A= (n.487-7A=) c.584-7A= (n.584-7A=) c.*226-85A= (n.*226-85A=) c.74-85A= (n.74-85A=) n.252-85A= c.1757-85A= (n.1757-85A=) c.644-85A= (n.644-85A=) c.1739-85A= (n.1739-85A=) c.1454-85A= (n.1454-85A=) c.236-85A= (n.236-85A=) n.606-7A= | |
17 | g.63488563A>G | CA2810114492 | ACE | c.2306-85A>G (n.2306-85A>G) c.584-85A>G (n.584-85A>G) c.*376-85A>G (n.*376-85A>G) c.487-7A>G (n.487-7A>G) c.584-7A>G (n.584-7A>G) c.*226-85A>G (n.*226-85A>G) c.74-85A>G (n.74-85A>G) n.252-85A>G c.1757-85A>G (n.1757-85A>G) c.644-85A>G (n.644-85A>G) c.1739-85A>G (n.1739-85A>G) c.1454-85A>G (n.1454-85A>G) c.236-85A>G (n.236-85A>G) n.606-7A>G | |
17 | g.63488563A>T | CA8700030 | ACE | c.2306-85A>T (n.2306-85A>T) c.584-85A>T (n.584-85A>T) c.*376-85A>T (n.*376-85A>T) c.487-7A>T (n.487-7A>T) c.584-7A>T (n.584-7A>T) c.*226-85A>T (n.*226-85A>T) c.74-85A>T (n.74-85A>T) n.252-85A>T c.1757-85A>T (n.1757-85A>T) c.644-85A>T (n.644-85A>T) c.1739-85A>T (n.1739-85A>T) c.1454-85A>T (n.1454-85A>T) c.236-85A>T (n.236-85A>T) n.606-7A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488564T>G | CA2639263673 | ACE | c.2306-84T>G (n.2306-84T>G) c.584-84T>G (n.584-84T>G) c.*376-84T>G (n.*376-84T>G) c.487-6T>G (n.487-6T>G) c.584-6T>G (n.584-6T>G) c.*226-84T>G (n.*226-84T>G) c.74-84T>G (n.74-84T>G) n.252-84T>G c.1757-84T>G (n.1757-84T>G) c.644-84T>G (n.644-84T>G) c.1739-84T>G (n.1739-84T>G) c.1454-84T>G (n.1454-84T>G) c.236-84T>G (n.236-84T>G) n.606-6T>G | gnomAD v4 |
17 | g.63488565_63488572delinsTCCAGCTC | CA2269945875 | ACE | c.2306-83_2306-76delinsTCCAGCTC (n.2306-83_2306-76delinsTCCAGCTC) c.584-83_584-76delinsTCCAGCTC (n.584-83_584-76delinsTCCAGCTC) c.*376-83_*376-76delinsTCCAGCTC (n.*376-83_*376-76delinsTCCAGCTC) c.487-5_489delinsTCCAGCTC c.584-5_586delinsTCCAGCTC c.*226-83_*226-76delinsTCCAGCTC (n.*226-83_*226-76delinsTCCAGCTC) c.74-83_74-76delinsTCCAGCTC (n.74-83_74-76delinsTCCAGCTC) n.252-83_252-76delinsTCCAGCTC c.1757-83_1757-76delinsTCCAGCTC (n.1757-83_1757-76delinsTCCAGCTC) c.644-83_644-76delinsTCCAGCTC (n.644-83_644-76delinsTCCAGCTC) c.1739-83_1739-76delinsTCCAGCTC (n.1739-83_1739-76delinsTCCAGCTC) c.1454-83_1454-76delinsTCCAGCTC (n.1454-83_1454-76delinsTCCAGCTC) c.236-83_236-76delinsTCCAGCTC (n.236-83_236-76delinsTCCAGCTC) n.606-5_608delinsTCCAGCTC | |
17 | g.63488565_63488566insTAGA | CA2639263674 | ACE | c.2306-83_2306-82insTAGA (n.2306-83_2306-82insTAGA) c.584-83_584-82insTAGA (n.584-83_584-82insTAGA) c.*376-83_*376-82insTAGA (n.*376-83_*376-82insTAGA) c.487-5_487-4insTAGA (n.487-5_487-4insTAGA) c.584-5_584-4insTAGA (n.584-5_584-4insTAGA) c.*226-83_*226-82insTAGA (n.*226-83_*226-82insTAGA) c.74-83_74-82insTAGA (n.74-83_74-82insTAGA) n.252-83_252-82insTAGA c.1757-83_1757-82insTAGA (n.1757-83_1757-82insTAGA) c.644-83_644-82insTAGA (n.644-83_644-82insTAGA) c.1739-83_1739-82insTAGA (n.1739-83_1739-82insTAGA) c.1454-83_1454-82insTAGA (n.1454-83_1454-82insTAGA) c.236-83_236-82insTAGA (n.236-83_236-82insTAGA) n.606-5_606-4insTAGA | gnomAD v4 |
17 | g.63488566C>A | CA2639263675 | ACE | c.2306-82C>A (n.2306-82C>A) c.584-82C>A (n.584-82C>A) c.*376-82C>A (n.*376-82C>A) c.487-4C>A (n.487-4C>A) c.584-4C>A (n.584-4C>A) c.*226-82C>A (n.*226-82C>A) c.74-82C>A (n.74-82C>A) n.252-82C>A c.1757-82C>A (n.1757-82C>A) c.644-82C>A (n.644-82C>A) c.1739-82C>A (n.1739-82C>A) c.1454-82C>A (n.1454-82C>A) c.236-82C>A (n.236-82C>A) n.606-4C>A | gnomAD v4 |
17 | g.63488566C= | CA2269945876 | ACE | c.2306-82C= (n.2306-82C=) c.584-82C= (n.584-82C=) c.*376-82C= (n.*376-82C=) c.487-4C= (n.487-4C=) c.584-4C= (n.584-4C=) c.*226-82C= (n.*226-82C=) c.74-82C= (n.74-82C=) n.252-82C= c.1757-82C= (n.1757-82C=) c.644-82C= (n.644-82C=) c.1739-82C= (n.1739-82C=) c.1454-82C= (n.1454-82C=) c.236-82C= (n.236-82C=) n.606-4C= | |
17 | g.63488566C>T | CA627148170 | ACE | c.2306-82C>T (n.2306-82C>T) c.584-82C>T (n.584-82C>T) c.*376-82C>T (n.*376-82C>T) c.487-4C>T (n.487-4C>T) c.584-4C>T (n.584-4C>T) c.*226-82C>T (n.*226-82C>T) c.74-82C>T (n.74-82C>T) n.252-82C>T c.1757-82C>T (n.1757-82C>T) c.644-82C>T (n.644-82C>T) c.1739-82C>T (n.1739-82C>T) c.1454-82C>T (n.1454-82C>T) c.236-82C>T (n.236-82C>T) n.606-4C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488566_63488570del | CA2639263676 | ACE | c.2306-82_2306-78del (n.2306-82_2306-78del) c.584-82_584-78del (n.584-82_584-78del) c.*376-82_*376-78del (n.*376-82_*376-78del) c.487-4_487del c.584-4_584del c.*226-82_*226-78del (n.*226-82_*226-78del) c.74-82_74-78del (n.74-82_74-78del) n.252-82_252-78del c.1757-82_1757-78del (n.1757-82_1757-78del) c.644-82_644-78del (n.644-82_644-78del) c.1739-82_1739-78del (n.1739-82_1739-78del) c.1454-82_1454-78del (n.1454-82_1454-78del) c.236-82_236-78del (n.236-82_236-78del) n.606-4_606del | gnomAD v4 |
17 | g.63488566_63488572del | CA627148169 | ACE | c.2306-82_2306-76del (n.2306-82_2306-76del) c.584-82_584-76del (n.584-82_584-76del) c.*376-82_*376-76del (n.*376-82_*376-76del) c.487-4_489del c.584-4_586del c.*226-82_*226-76del (n.*226-82_*226-76del) c.74-82_74-76del (n.74-82_74-76del) n.252-82_252-76del c.1757-82_1757-76del (n.1757-82_1757-76del) c.644-82_644-76del (n.644-82_644-76del) c.1739-82_1739-76del (n.1739-82_1739-76del) c.1454-82_1454-76del (n.1454-82_1454-76del) c.236-82_236-76del (n.236-82_236-76del) n.606-4_608del | dbSNP gnomAD v2 |
17 | g.63488566_63488582del | CA985411539 | ACE | c.2306-82_2306-66del (n.2306-82_2306-66del) c.584-82_584-66del (n.584-82_584-66del) c.*376-82_*376-66del (n.*376-82_*376-66del) c.487-4_499del c.584-4_596del c.*226-82_*226-66del (n.*226-82_*226-66del) c.74-82_74-66del (n.74-82_74-66del) n.252-82_252-66del c.1757-82_1757-66del (n.1757-82_1757-66del) c.644-82_644-66del (n.644-82_644-66del) c.1739-82_1739-66del (n.1739-82_1739-66del) c.1454-82_1454-66del (n.1454-82_1454-66del) c.236-82_236-66del (n.236-82_236-66del) n.606-4_618del | gnomAD v3 gnomAD v4 |
17 | g.63488567C>A | CA2639263677 | ACE | c.2306-81C>A (n.2306-81C>A) c.584-81C>A (n.584-81C>A) c.*376-81C>A (n.*376-81C>A) c.487-3C>A (n.487-3C>A) c.584-3C>A (n.584-3C>A) c.*226-81C>A (n.*226-81C>A) c.74-81C>A (n.74-81C>A) n.252-81C>A c.1757-81C>A (n.1757-81C>A) c.644-81C>A (n.644-81C>A) c.1739-81C>A (n.1739-81C>A) c.1454-81C>A (n.1454-81C>A) c.236-81C>A (n.236-81C>A) n.606-3C>A | gnomAD v4 |
17 | g.63488567C= | CA2269945877 | ACE | c.2306-81C= (n.2306-81C=) c.584-81C= (n.584-81C=) c.*376-81C= (n.*376-81C=) c.487-3C= (n.487-3C=) c.584-3C= (n.584-3C=) c.*226-81C= (n.*226-81C=) c.74-81C= (n.74-81C=) n.252-81C= c.1757-81C= (n.1757-81C=) c.644-81C= (n.644-81C=) c.1739-81C= (n.1739-81C=) c.1454-81C= (n.1454-81C=) c.236-81C= (n.236-81C=) n.606-3C= | |
17 | g.63488567C>G | CA627148171 | ACE | c.2306-81C>G (n.2306-81C>G) c.584-81C>G (n.584-81C>G) c.*376-81C>G (n.*376-81C>G) c.487-3C>G (n.487-3C>G) c.584-3C>G (n.584-3C>G) c.*226-81C>G (n.*226-81C>G) c.74-81C>G (n.74-81C>G) n.252-81C>G c.1757-81C>G (n.1757-81C>G) c.644-81C>G (n.644-81C>G) c.1739-81C>G (n.1739-81C>G) c.1454-81C>G (n.1454-81C>G) c.236-81C>G (n.236-81C>G) n.606-3C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488567C>T | CA773966981 | ACE | c.2306-81C>T (n.2306-81C>T) c.584-81C>T (n.584-81C>T) c.*376-81C>T (n.*376-81C>T) c.487-3C>T (n.487-3C>T) c.584-3C>T (n.584-3C>T) c.*226-81C>T (n.*226-81C>T) c.74-81C>T (n.74-81C>T) n.252-81C>T c.1757-81C>T (n.1757-81C>T) c.644-81C>T (n.644-81C>T) c.1739-81C>T (n.1739-81C>T) c.1454-81C>T (n.1454-81C>T) c.236-81C>T (n.236-81C>T) n.606-3C>T | dbSNP gnomAD v4 |
17 | g.63488568A>C | CA2639263678 | ACE | c.2306-80A>C (n.2306-80A>C) c.584-80A>C (n.584-80A>C) c.*376-80A>C (n.*376-80A>C) c.487-2A>C (n.487-2A>C) c.584-2A>C (n.584-2A>C) c.*226-80A>C (n.*226-80A>C) c.74-80A>C (n.74-80A>C) n.252-80A>C c.1757-80A>C (n.1757-80A>C) c.644-80A>C (n.644-80A>C) c.1739-80A>C (n.1739-80A>C) c.1454-80A>C (n.1454-80A>C) c.236-80A>C (n.236-80A>C) n.606-2A>C | gnomAD v4 |
17 | g.63488569G>A | CA2639263679 | ACE | c.2306-79G>A (n.2306-79G>A) c.584-79G>A (n.584-79G>A) c.*376-79G>A (n.*376-79G>A) c.487-1G>A (n.487-1G>A) c.584-1G>A (n.584-1G>A) c.*226-79G>A (n.*226-79G>A) c.74-79G>A (n.74-79G>A) n.252-79G>A c.1757-79G>A (n.1757-79G>A) c.644-79G>A (n.644-79G>A) c.1739-79G>A (n.1739-79G>A) c.1454-79G>A (n.1454-79G>A) c.236-79G>A (n.236-79G>A) n.606-1G>A | gnomAD v4 |
17 | g.63488569G>T | CA2639263680 | ACE | c.2306-79G>T (n.2306-79G>T) c.584-79G>T (n.584-79G>T) c.*376-79G>T (n.*376-79G>T) c.487-1G>T (n.487-1G>T) c.584-1G>T (n.584-1G>T) c.*226-79G>T (n.*226-79G>T) c.74-79G>T (n.74-79G>T) n.252-79G>T c.1757-79G>T (n.1757-79G>T) c.644-79G>T (n.644-79G>T) c.1739-79G>T (n.1739-79G>T) c.1454-79G>T (n.1454-79G>T) c.236-79G>T (n.236-79G>T) n.606-1G>T | gnomAD v4 |
17 | g.63488570C>A | CA2639263681 | ACE | c.2306-78C>A (n.2306-78C>A) c.584-78C>A (n.584-78C>A) c.*376-78C>A (n.*376-78C>A) c.487C>A (n.487C>A) c.584C>A (p.Ala195Asp) c.*226-78C>A (n.*226-78C>A) c.74-78C>A (n.74-78C>A) n.252-78C>A c.1757-78C>A (n.1757-78C>A) c.644-78C>A (n.644-78C>A) c.1739-78C>A (n.1739-78C>A) c.1454-78C>A (n.1454-78C>A) c.236-78C>A (n.236-78C>A) n.606C>A | gnomAD v4 |
17 | g.63488570C= | CA2269945878 | ACE | c.2306-78C= (n.2306-78C=) c.584-78C= (n.584-78C=) c.*376-78C= (n.*376-78C=) c.487C= (n.487C=) c.584C= (p.Ala195=) c.*226-78C= (n.*226-78C=) c.74-78C= (n.74-78C=) n.252-78C= c.1757-78C= (n.1757-78C=) c.644-78C= (n.644-78C=) c.1739-78C= (n.1739-78C=) c.1454-78C= (n.1454-78C=) c.236-78C= (n.236-78C=) n.606C= | |
17 | g.63488570C>G | CA627148172 | ACE | c.2306-78C>G (n.2306-78C>G) c.584-78C>G (n.584-78C>G) c.*376-78C>G (n.*376-78C>G) c.487C>G (n.487C>G) c.584C>G (p.Ala195Gly) c.*226-78C>G (n.*226-78C>G) c.74-78C>G (n.74-78C>G) n.252-78C>G c.1757-78C>G (n.1757-78C>G) c.644-78C>G (n.644-78C>G) c.1739-78C>G (n.1739-78C>G) c.1454-78C>G (n.1454-78C>G) c.236-78C>G (n.236-78C>G) n.606C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488571T>A | CA8700031 | ACE | c.2306-77T>A (n.2306-77T>A) c.584-77T>A (n.584-77T>A) c.*376-77T>A (n.*376-77T>A) c.488T>A (n.488T>A) c.585T>A (p.Ala195=) c.*226-77T>A (n.*226-77T>A) c.74-77T>A (n.74-77T>A) n.252-77T>A c.1757-77T>A (n.1757-77T>A) c.644-77T>A (n.644-77T>A) c.1739-77T>A (n.1739-77T>A) c.1454-77T>A (n.1454-77T>A) c.236-77T>A (n.236-77T>A) n.607T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488571T>C | CA8700032 | ACE | c.2306-77T>C (n.2306-77T>C) c.584-77T>C (n.584-77T>C) c.*376-77T>C (n.*376-77T>C) c.488T>C (n.488T>C) c.585T>C (p.Ala195=) c.*226-77T>C (n.*226-77T>C) c.74-77T>C (n.74-77T>C) n.252-77T>C c.1757-77T>C (n.1757-77T>C) c.644-77T>C (n.644-77T>C) c.1739-77T>C (n.1739-77T>C) c.1454-77T>C (n.1454-77T>C) c.236-77T>C (n.236-77T>C) n.607T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488571T>G | CA2536840734 | ACE | c.2306-77T>G (n.2306-77T>G) c.584-77T>G (n.584-77T>G) c.*376-77T>G (n.*376-77T>G) c.488T>G (n.488T>G) c.585T>G (p.Ala195=) c.*226-77T>G (n.*226-77T>G) c.74-77T>G (n.74-77T>G) n.252-77T>G c.1757-77T>G (n.1757-77T>G) c.644-77T>G (n.644-77T>G) c.1739-77T>G (n.1739-77T>G) c.1454-77T>G (n.1454-77T>G) c.236-77T>G (n.236-77T>G) n.607T>G | |
17 | g.63488571T= | CA2269945879 | ACE | c.2306-77T= (n.2306-77T=) c.584-77T= (n.584-77T=) c.*376-77T= (n.*376-77T=) c.488T= (n.488T=) c.585T= (p.Ala195=) c.*226-77T= (n.*226-77T=) c.74-77T= (n.74-77T=) n.252-77T= c.1757-77T= (n.1757-77T=) c.644-77T= (n.644-77T=) c.1739-77T= (n.1739-77T=) c.1454-77T= (n.1454-77T=) c.236-77T= (n.236-77T=) n.607T= | |
17 | g.63488572C= | CA2269945880 | ACE | c.2306-76C= (n.2306-76C=) c.584-76C= (n.584-76C=) c.*376-76C= (n.*376-76C=) c.489C= (n.489C=) c.586C= (p.Leu196=) c.*226-76C= (n.*226-76C=) c.74-76C= (n.74-76C=) n.252-76C= c.1757-76C= (n.1757-76C=) c.644-76C= (n.644-76C=) c.1739-76C= (n.1739-76C=) c.1454-76C= (n.1454-76C=) c.236-76C= (n.236-76C=) n.608C= | |
17 | g.63488572C>T | CA8700033 | ACE | c.2306-76C>T (n.2306-76C>T) c.584-76C>T (n.584-76C>T) c.*376-76C>T (n.*376-76C>T) c.489C>T (n.489C>T) c.586C>T (p.Leu196=) c.*226-76C>T (n.*226-76C>T) c.74-76C>T (n.74-76C>T) n.252-76C>T c.1757-76C>T (n.1757-76C>T) c.644-76C>T (n.644-76C>T) c.1739-76C>T (n.1739-76C>T) c.1454-76C>T (n.1454-76C>T) c.236-76C>T (n.236-76C>T) n.608C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488575A= | CA2269945881 | ACE | c.2306-73A= (n.2306-73A=) c.584-73A= (n.584-73A=) c.*376-73A= (n.*376-73A=) c.492A= (n.492A=) c.589A= (p.Lys197=) c.*226-73A= (n.*226-73A=) c.74-73A= (n.74-73A=) n.252-73A= c.1757-73A= (n.1757-73A=) c.644-73A= (n.644-73A=) c.1739-73A= (n.1739-73A=) c.1454-73A= (n.1454-73A=) c.236-73A= (n.236-73A=) n.611A= | |
17 | g.63488575_63488576insG | CA627148173 | ACE | c.2306-73_2306-72insG (n.2306-73_2306-72insG) c.584-73_584-72insG (n.584-73_584-72insG) c.*376-73_*376-72insG (n.*376-73_*376-72insG) c.492_493insG (n.492_493insG) c.589_590insG (p.Lys197ArgfsTer4) c.*226-73_*226-72insG (n.*226-73_*226-72insG) c.74-73_74-72insG (n.74-73_74-72insG) n.252-73_252-72insG c.1757-73_1757-72insG (n.1757-73_1757-72insG) c.644-73_644-72insG (n.644-73_644-72insG) c.1739-73_1739-72insG (n.1739-73_1739-72insG) c.1454-73_1454-72insG (n.1454-73_1454-72insG) c.236-73_236-72insG (n.236-73_236-72insG) n.611_612insG | dbSNP gnomAD v2 |
17 | g.63488575_63488576insGACGG | CA2639263682 | ACE | c.2306-73_2306-72insGACGG (n.2306-73_2306-72insGACGG) c.584-73_584-72insGACGG (n.584-73_584-72insGACGG) c.*376-73_*376-72insGACGG (n.*376-73_*376-72insGACGG) c.492_493insGACGG (n.492_493insGACGG) c.589_590insGACGG (p.Lys197ArgfsTer13) c.*226-73_*226-72insGACGG (n.*226-73_*226-72insGACGG) c.74-73_74-72insGACGG (n.74-73_74-72insGACGG) n.252-73_252-72insGACGG c.1757-73_1757-72insGACGG (n.1757-73_1757-72insGACGG) c.644-73_644-72insGACGG (n.644-73_644-72insGACGG) c.1739-73_1739-72insGACGG (n.1739-73_1739-72insGACGG) c.1454-73_1454-72insGACGG (n.1454-73_1454-72insGACGG) c.236-73_236-72insGACGG (n.236-73_236-72insGACGG) n.611_612insGACGG | gnomAD v4 |
17 | g.63488576A= | CA2269945882 | ACE | c.2306-72A= (n.2306-72A=) c.584-72A= (n.584-72A=) c.*376-72A= (n.*376-72A=) c.493A= (n.493A=) c.590A= (p.Lys197=) c.*226-72A= (n.*226-72A=) c.74-72A= (n.74-72A=) n.252-72A= c.1757-72A= (n.1757-72A=) c.644-72A= (n.644-72A=) c.1739-72A= (n.1739-72A=) c.1454-72A= (n.1454-72A=) c.236-72A= (n.236-72A=) n.612A= | |
17 | g.63488576_63488577insCGG | CA627148174 | ACE | c.2306-72_2306-71insCGG (n.2306-72_2306-71insCGG) c.584-72_584-71insCGG (n.584-72_584-71insCGG) c.*376-72_*376-71insCGG (n.*376-72_*376-71insCGG) c.493_494insCGG (n.493_494insCGG) c.590_591insCGG (p.Lys197delinsAsnGly) c.*226-72_*226-71insCGG (n.*226-72_*226-71insCGG) c.74-72_74-71insCGG (n.74-72_74-71insCGG) n.252-72_252-71insCGG c.1757-72_1757-71insCGG (n.1757-72_1757-71insCGG) c.644-72_644-71insCGG (n.644-72_644-71insCGG) c.1739-72_1739-71insCGG (n.1739-72_1739-71insCGG) c.1454-72_1454-71insCGG (n.1454-72_1454-71insCGG) c.236-72_236-71insCGG (n.236-72_236-71insCGG) n.612_613insCGG | dbSNP gnomAD v2 |
17 | g.63488577A= | CA2269945883 | ACE | c.2306-71A= (n.2306-71A=) c.584-71A= (n.584-71A=) c.*376-71A= (n.*376-71A=) c.494A= (n.494A=) c.591A= (p.Lys197=) c.*226-71A= (n.*226-71A=) c.74-71A= (n.74-71A=) n.252-71A= c.1757-71A= (n.1757-71A=) c.644-71A= (n.644-71A=) c.1739-71A= (n.1739-71A=) c.1454-71A= (n.1454-71A=) c.236-71A= (n.236-71A=) n.613A= | |
17 | g.63488577A>C | CA2639263683 | ACE | c.2306-71A>C (n.2306-71A>C) c.584-71A>C (n.584-71A>C) c.*376-71A>C (n.*376-71A>C) c.494A>C (n.494A>C) c.591A>C (p.Lys197Asn) c.*226-71A>C (n.*226-71A>C) c.74-71A>C (n.74-71A>C) n.252-71A>C c.1757-71A>C (n.1757-71A>C) c.644-71A>C (n.644-71A>C) c.1739-71A>C (n.1739-71A>C) c.1454-71A>C (n.1454-71A>C) c.236-71A>C (n.236-71A>C) n.613A>C | gnomAD v4 |
17 | g.63488577A>G | CA8700034 | ACE | c.2306-71A>G (n.2306-71A>G) c.584-71A>G (n.584-71A>G) c.*376-71A>G (n.*376-71A>G) c.494A>G (n.494A>G) c.591A>G (p.Lys197=) c.*226-71A>G (n.*226-71A>G) c.74-71A>G (n.74-71A>G) n.252-71A>G c.1757-71A>G (n.1757-71A>G) c.644-71A>G (n.644-71A>G) c.1739-71A>G (n.1739-71A>G) c.1454-71A>G (n.1454-71A>G) c.236-71A>G (n.236-71A>G) n.613A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488578T>G | CA627148175 | ACE | c.2306-70T>G (n.2306-70T>G) c.584-70T>G (n.584-70T>G) c.*376-70T>G (n.*376-70T>G) c.495T>G (n.495T>G) c.592T>G (p.Phe198Val) c.*226-70T>G (n.*226-70T>G) c.74-70T>G (n.74-70T>G) n.252-70T>G c.1757-70T>G (n.1757-70T>G) c.644-70T>G (n.644-70T>G) c.1739-70T>G (n.1739-70T>G) c.1454-70T>G (n.1454-70T>G) c.236-70T>G (n.236-70T>G) n.614T>G | dbSNP gnomAD v2 |
17 | g.63488578T= | CA2269945884 | ACE | c.2306-70T= (n.2306-70T=) c.584-70T= (n.584-70T=) c.*376-70T= (n.*376-70T=) c.495T= (n.495T=) c.592T= (p.Phe198=) c.*226-70T= (n.*226-70T=) c.74-70T= (n.74-70T=) n.252-70T= c.1757-70T= (n.1757-70T=) c.644-70T= (n.644-70T=) c.1739-70T= (n.1739-70T=) c.1454-70T= (n.1454-70T=) c.236-70T= (n.236-70T=) n.614T= | |
17 | g.63488579T>C | CA2576350613 | ACE | c.2306-69T>C (n.2306-69T>C) c.584-69T>C (n.584-69T>C) c.*376-69T>C (n.*376-69T>C) c.496T>C (n.496T>C) c.593T>C (p.Phe198Ser) c.*226-69T>C (n.*226-69T>C) c.74-69T>C (n.74-69T>C) n.252-69T>C c.1757-69T>C (n.1757-69T>C) c.644-69T>C (n.644-69T>C) c.1739-69T>C (n.1739-69T>C) c.1454-69T>C (n.1454-69T>C) c.236-69T>C (n.236-69T>C) n.615T>C | |
17 | g.63488580C>A | CA2576350614 | ACE | c.2306-68C>A (n.2306-68C>A) c.584-68C>A (n.584-68C>A) c.*376-68C>A (n.*376-68C>A) c.497C>A (n.497C>A) c.594C>A (p.Phe198Leu) c.*226-68C>A (n.*226-68C>A) c.74-68C>A (n.74-68C>A) n.252-68C>A c.1757-68C>A (n.1757-68C>A) c.644-68C>A (n.644-68C>A) c.1739-68C>A (n.1739-68C>A) c.1454-68C>A (n.1454-68C>A) c.236-68C>A (n.236-68C>A) n.616C>A | gnomAD v4 |
17 | g.63488580C= | CA2269945885 | ACE | c.2306-68C= (n.2306-68C=) c.584-68C= (n.584-68C=) c.*376-68C= (n.*376-68C=) c.497C= (n.497C=) c.594C= (p.Phe198=) c.*226-68C= (n.*226-68C=) c.74-68C= (n.74-68C=) n.252-68C= c.1757-68C= (n.1757-68C=) c.644-68C= (n.644-68C=) c.1739-68C= (n.1739-68C=) c.1454-68C= (n.1454-68C=) c.236-68C= (n.236-68C=) n.616C= | |
17 | g.63488580C>G | CA8700036 | ACE | c.2306-68C>G (n.2306-68C>G) c.584-68C>G (n.584-68C>G) c.*376-68C>G (n.*376-68C>G) c.497C>G (n.497C>G) c.594C>G (p.Phe198Leu) c.*226-68C>G (n.*226-68C>G) c.74-68C>G (n.74-68C>G) n.252-68C>G c.1757-68C>G (n.1757-68C>G) c.644-68C>G (n.644-68C>G) c.1739-68C>G (n.1739-68C>G) c.1454-68C>G (n.1454-68C>G) c.236-68C>G (n.236-68C>G) n.616C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63488580C>T | CA8700035 | ACE | c.2306-68C>T (n.2306-68C>T) c.584-68C>T (n.584-68C>T) c.*376-68C>T (n.*376-68C>T) c.497C>T (n.497C>T) c.594C>T (p.Phe198=) c.*226-68C>T (n.*226-68C>T) c.74-68C>T (n.74-68C>T) n.252-68C>T c.1757-68C>T (n.1757-68C>T) c.644-68C>T (n.644-68C>T) c.1739-68C>T (n.1739-68C>T) c.1454-68C>T (n.1454-68C>T) c.236-68C>T (n.236-68C>T) n.616C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63488581T>C | CA2810114495 | ACE | c.2306-67T>C (n.2306-67T>C) c.584-67T>C (n.584-67T>C) c.*376-67T>C (n.*376-67T>C) c.498T>C (n.498T>C) c.595T>C (p.Ser199Pro) c.*226-67T>C (n.*226-67T>C) c.74-67T>C (n.74-67T>C) n.252-67T>C c.1757-67T>C (n.1757-67T>C) c.644-67T>C (n.644-67T>C) c.1739-67T>C (n.1739-67T>C) c.1454-67T>C (n.1454-67T>C) c.236-67T>C (n.236-67T>C) n.617T>C | |
17 | g.63488582C>A | CA2639263684 | ACE | c.2306-66C>A (n.2306-66C>A) c.584-66C>A (n.584-66C>A) c.*376-66C>A (n.*376-66C>A) c.499C>A (n.499C>A) c.596C>A (p.Ser199Tyr) c.*226-66C>A (n.*226-66C>A) c.74-66C>A (n.74-66C>A) n.252-66C>A c.1757-66C>A (n.1757-66C>A) c.644-66C>A (n.644-66C>A) c.1739-66C>A (n.1739-66C>A) c.1454-66C>A (n.1454-66C>A) c.236-66C>A (n.236-66C>A) n.618C>A | gnomAD v4 |
17 | g.63488582C= | CA2269945886 | ACE | c.2306-66C= (n.2306-66C=) c.584-66C= (n.584-66C=) c.*376-66C= (n.*376-66C=) c.499C= (n.499C=) c.596C= (p.Ser199=) c.*226-66C= (n.*226-66C=) c.74-66C= (n.74-66C=) n.252-66C= c.1757-66C= (n.1757-66C=) c.644-66C= (n.644-66C=) c.1739-66C= (n.1739-66C=) c.1454-66C= (n.1454-66C=) c.236-66C= (n.236-66C=) n.618C= | |
17 | g.63488582C>G | CA627148177 | ACE | c.2306-66C>G (n.2306-66C>G) c.584-66C>G (n.584-66C>G) c.*376-66C>G (n.*376-66C>G) c.499C>G (n.499C>G) c.596C>G (p.Ser199Cys) c.*226-66C>G (n.*226-66C>G) c.74-66C>G (n.74-66C>G) n.252-66C>G c.1757-66C>G (n.1757-66C>G) c.644-66C>G (n.644-66C>G) c.1739-66C>G (n.1739-66C>G) c.1454-66C>G (n.1454-66C>G) c.236-66C>G (n.236-66C>G) n.618C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488582C>T | CA627148176 | ACE | c.2306-66C>T (n.2306-66C>T) c.584-66C>T (n.584-66C>T) c.*376-66C>T (n.*376-66C>T) c.499C>T (n.499C>T) c.596C>T (p.Ser199Phe) c.*226-66C>T (n.*226-66C>T) c.74-66C>T (n.74-66C>T) n.252-66C>T c.1757-66C>T (n.1757-66C>T) c.644-66C>T (n.644-66C>T) c.1739-66C>T (n.1739-66C>T) c.1454-66C>T (n.1454-66C>T) c.236-66C>T (n.236-66C>T) n.618C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488583_63488585del | CA627148178 | ACE | c.2306-65_2306-63del (n.2306-65_2306-63del) c.584-65_584-63del (n.584-65_584-63del) c.*376-65_*376-63del (n.*376-65_*376-63del) c.500_502del (n.500_502del) c.597_599del (p.Glu200del) c.*226-65_*226-63del (n.*226-65_*226-63del) c.74-65_74-63del (n.74-65_74-63del) n.252-65_252-63del c.1757-65_1757-63del (n.1757-65_1757-63del) c.644-65_644-63del (n.644-65_644-63del) c.1739-65_1739-63del (n.1739-65_1739-63del) c.1454-65_1454-63del (n.1454-65_1454-63del) c.236-65_236-63del (n.236-65_236-63del) n.619_621del | gnomAD v2 |
17 | g.63488584G>T | CA2546072125 | ACE | c.2306-64G>T (n.2306-64G>T) c.584-64G>T (n.584-64G>T) c.*376-64G>T (n.*376-64G>T) c.501G>T (n.501G>T) c.598G>T (p.Glu200Ter) c.*226-64G>T (n.*226-64G>T) c.74-64G>T (n.74-64G>T) n.252-64G>T c.1757-64G>T (n.1757-64G>T) c.644-64G>T (n.644-64G>T) c.1739-64G>T (n.1739-64G>T) c.1454-64G>T (n.1454-64G>T) c.236-64G>T (n.236-64G>T) n.620G>T | |
17 | g.63488585A>G | CA985411547 | ACE | c.2306-63A>G (n.2306-63A>G) c.584-63A>G (n.584-63A>G) c.*376-63A>G (n.*376-63A>G) c.502A>G (n.502A>G) c.599A>G (p.Glu200Gly) c.*226-63A>G (n.*226-63A>G) c.74-63A>G (n.74-63A>G) n.252-63A>G c.1757-63A>G (n.1757-63A>G) c.644-63A>G (n.644-63A>G) c.1739-63A>G (n.1739-63A>G) c.1454-63A>G (n.1454-63A>G) c.236-63A>G (n.236-63A>G) n.621A>G | gnomAD v3 gnomAD v4 |
17 | g.63488586G>A | CA292883191 | ACE | c.2306-62G>A (n.2306-62G>A) c.584-62G>A (n.584-62G>A) c.*376-62G>A (n.*376-62G>A) c.503G>A (n.503G>A) c.600G>A (p.Glu200=) c.*226-62G>A (n.*226-62G>A) c.74-62G>A (n.74-62G>A) n.252-62G>A c.1757-62G>A (n.1757-62G>A) c.644-62G>A (n.644-62G>A) c.1739-62G>A (n.1739-62G>A) c.1454-62G>A (n.1454-62G>A) c.236-62G>A (n.236-62G>A) n.622G>A | dbSNP gnomAD v4 |
17 | g.63488586G= | CA2269945887 | ACE | c.2306-62G= (n.2306-62G=) c.584-62G= (n.584-62G=) c.*376-62G= (n.*376-62G=) c.503G= (n.503G=) c.600G= (p.Glu200=) c.*226-62G= (n.*226-62G=) c.74-62G= (n.74-62G=) n.252-62G= c.1757-62G= (n.1757-62G=) c.644-62G= (n.644-62G=) c.1739-62G= (n.1739-62G=) c.1454-62G= (n.1454-62G=) c.236-62G= (n.236-62G=) n.622G= | |
17 | g.63488587C>A | CA2639263685 | ACE | c.2306-61C>A (n.2306-61C>A) c.584-61C>A (n.584-61C>A) c.*376-61C>A (n.*376-61C>A) c.504C>A (n.504C>A) c.601C>A (p.Leu201Ile) c.*226-61C>A (n.*226-61C>A) c.74-61C>A (n.74-61C>A) n.252-61C>A c.1757-61C>A (n.1757-61C>A) c.644-61C>A (n.644-61C>A) c.1739-61C>A (n.1739-61C>A) c.1454-61C>A (n.1454-61C>A) c.236-61C>A (n.236-61C>A) n.623C>A | gnomAD v4 |
17 | g.63488587C= | CA2269945888 | ACE | c.2306-61C= (n.2306-61C=) c.584-61C= (n.584-61C=) c.*376-61C= (n.*376-61C=) c.504C= (n.504C=) c.601C= (p.Leu201=) c.*226-61C= (n.*226-61C=) c.74-61C= (n.74-61C=) n.252-61C= c.1757-61C= (n.1757-61C=) c.644-61C= (n.644-61C=) c.1739-61C= (n.1739-61C=) c.1454-61C= (n.1454-61C=) c.236-61C= (n.236-61C=) n.623C= | |
17 | g.63488587C>G | CA2639263686 | ACE | c.2306-61C>G (n.2306-61C>G) c.584-61C>G (n.584-61C>G) c.*376-61C>G (n.*376-61C>G) c.504C>G (n.504C>G) c.601C>G (p.Leu201Val) c.*226-61C>G (n.*226-61C>G) c.74-61C>G (n.74-61C>G) n.252-61C>G c.1757-61C>G (n.1757-61C>G) c.644-61C>G (n.644-61C>G) c.1739-61C>G (n.1739-61C>G) c.1454-61C>G (n.1454-61C>G) c.236-61C>G (n.236-61C>G) n.623C>G | gnomAD v4 |
17 | g.63488587C>T | CA8700037 | ACE | c.2306-61C>T (n.2306-61C>T) c.584-61C>T (n.584-61C>T) c.*376-61C>T (n.*376-61C>T) c.504C>T (n.504C>T) c.601C>T (p.Leu201Phe) c.*226-61C>T (n.*226-61C>T) c.74-61C>T (n.74-61C>T) n.252-61C>T c.1757-61C>T (n.1757-61C>T) c.644-61C>T (n.644-61C>T) c.1739-61C>T (n.1739-61C>T) c.1454-61C>T (n.1454-61C>T) c.236-61C>T (n.236-61C>T) n.623C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63488587_63488594del | CA985411555 | ACE | c.2306-61_2306-54del (n.2306-61_2306-54del) c.584-61_584-54del (n.584-61_584-54del) c.*376-61_*376-54del (n.*376-61_*376-54del) c.504_511del (n.504_511del) c.601_608del (p.Leu201ThrfsTer30) c.*226-61_*226-54del (n.*226-61_*226-54del) c.74-61_74-54del (n.74-61_74-54del) n.252-61_252-54del c.1757-61_1757-54del (n.1757-61_1757-54del) c.644-61_644-54del (n.644-61_644-54del) c.1739-61_1739-54del (n.1739-61_1739-54del) c.1454-61_1454-54del (n.1454-61_1454-54del) c.236-61_236-54del (n.236-61_236-54del) n.623_630del | gnomAD v3 gnomAD v4 |
17 | g.63488588T>G | CA2810114496 | ACE | c.2306-60T>G (n.2306-60T>G) c.584-60T>G (n.584-60T>G) c.*376-60T>G (n.*376-60T>G) c.505T>G (n.505T>G) c.602T>G (p.Leu201Arg) c.*226-60T>G (n.*226-60T>G) c.74-60T>G (n.74-60T>G) n.252-60T>G c.1757-60T>G (n.1757-60T>G) c.644-60T>G (n.644-60T>G) c.1739-60T>G (n.1739-60T>G) c.1454-60T>G (n.1454-60T>G) c.236-60T>G (n.236-60T>G) n.624T>G | |
17 | g.63488589C= | CA2269945889 | ACE | c.2306-59C= (n.2306-59C=) c.584-59C= (n.584-59C=) c.*376-59C= (n.*376-59C=) c.506C= (n.506C=) c.603C= (p.Leu201=) c.*226-59C= (n.*226-59C=) c.74-59C= (n.74-59C=) n.252-59C= c.1757-59C= (n.1757-59C=) c.644-59C= (n.644-59C=) c.1739-59C= (n.1739-59C=) c.1454-59C= (n.1454-59C=) c.236-59C= (n.236-59C=) n.625C= | |
17 | g.63488589C>T | CA8700038 | ACE | c.2306-59C>T (n.2306-59C>T) c.584-59C>T (n.584-59C>T) c.*376-59C>T (n.*376-59C>T) c.506C>T (n.506C>T) c.603C>T (p.Leu201=) c.*226-59C>T (n.*226-59C>T) c.74-59C>T (n.74-59C>T) n.252-59C>T c.1757-59C>T (n.1757-59C>T) c.644-59C>T (n.644-59C>T) c.1739-59C>T (n.1739-59C>T) c.1454-59C>T (n.1454-59C>T) c.236-59C>T (n.236-59C>T) n.625C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488589_63488590insTGTCG | CA627148179 | ACE | c.2306-59_2306-58insTGTCG (n.2306-59_2306-58insTGTCG) c.584-59_584-58insTGTCG (n.584-59_584-58insTGTCG) c.*376-59_*376-58insTGTCG (n.*376-59_*376-58insTGTCG) c.506_507insTGTCG (n.506_507insTGTCG) c.603_604insTGTCG (p.Pro202CysfsTer8) c.*226-59_*226-58insTGTCG (n.*226-59_*226-58insTGTCG) c.74-59_74-58insTGTCG (n.74-59_74-58insTGTCG) n.252-59_252-58insTGTCG c.1757-59_1757-58insTGTCG (n.1757-59_1757-58insTGTCG) c.644-59_644-58insTGTCG (n.644-59_644-58insTGTCG) c.1739-59_1739-58insTGTCG (n.1739-59_1739-58insTGTCG) c.1454-59_1454-58insTGTCG (n.1454-59_1454-58insTGTCG) c.236-59_236-58insTGTCG (n.236-59_236-58insTGTCG) n.625_626insTGTCG | gnomAD v2 |
17 | g.63488590C>A | CA2639263687 | ACE | c.2306-58C>A (n.2306-58C>A) c.584-58C>A (n.584-58C>A) c.*376-58C>A (n.*376-58C>A) c.507C>A (n.507C>A) c.604C>A (p.Pro202Thr) c.*226-58C>A (n.*226-58C>A) c.74-58C>A (n.74-58C>A) n.252-58C>A c.1757-58C>A (n.1757-58C>A) c.644-58C>A (n.644-58C>A) c.1739-58C>A (n.1739-58C>A) c.1454-58C>A (n.1454-58C>A) c.236-58C>A (n.236-58C>A) n.626C>A | gnomAD v4 |
17 | g.63488590C= | CA2269945890 | ACE | c.2306-58C= (n.2306-58C=) c.584-58C= (n.584-58C=) c.*376-58C= (n.*376-58C=) c.507C= (n.507C=) c.604C= (p.Pro202=) c.*226-58C= (n.*226-58C=) c.74-58C= (n.74-58C=) n.252-58C= c.1757-58C= (n.1757-58C=) c.644-58C= (n.644-58C=) c.1739-58C= (n.1739-58C=) c.1454-58C= (n.1454-58C=) c.236-58C= (n.236-58C=) n.626C= | |
17 | g.63488590C>T | CA627148180 | ACE | c.2306-58C>T (n.2306-58C>T) c.584-58C>T (n.584-58C>T) c.*376-58C>T (n.*376-58C>T) c.507C>T (n.507C>T) c.604C>T (p.Pro202Ser) c.*226-58C>T (n.*226-58C>T) c.74-58C>T (n.74-58C>T) n.252-58C>T c.1757-58C>T (n.1757-58C>T) c.644-58C>T (n.644-58C>T) c.1739-58C>T (n.1739-58C>T) c.1454-58C>T (n.1454-58C>T) c.236-58C>T (n.236-58C>T) n.626C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488591C>T | CA627148181 | ACE | c.2306-57C>T (n.2306-57C>T) c.584-57C>T (n.584-57C>T) c.*376-57C>T (n.*376-57C>T) c.508C>T (n.508C>T) c.605C>T (p.Pro202Leu) c.*226-57C>T (n.*226-57C>T) c.74-57C>T (n.74-57C>T) n.252-57C>T c.1757-57C>T (n.1757-57C>T) c.644-57C>T (n.644-57C>T) c.1739-57C>T (n.1739-57C>T) c.1454-57C>T (n.1454-57C>T) c.236-57C>T (n.236-57C>T) n.627C>T | gnomAD v2 |
17 | g.63488592C>G | CA2639263688 | ACE | c.2306-56C>G (n.2306-56C>G) c.584-56C>G (n.584-56C>G) c.*376-56C>G (n.*376-56C>G) c.509C>G (n.509C>G) c.606C>G (p.Pro202=) c.*226-56C>G (n.*226-56C>G) c.74-56C>G (n.74-56C>G) n.252-56C>G c.1757-56C>G (n.1757-56C>G) c.644-56C>G (n.644-56C>G) c.1739-56C>G (n.1739-56C>G) c.1454-56C>G (n.1454-56C>G) c.236-56C>G (n.236-56C>G) n.628C>G | gnomAD v4 |
17 | g.63488592C>T | CA2576350615 | ACE | c.2306-56C>T (n.2306-56C>T) c.584-56C>T (n.584-56C>T) c.*376-56C>T (n.*376-56C>T) c.509C>T (n.509C>T) c.606C>T (p.Pro202=) c.*226-56C>T (n.*226-56C>T) c.74-56C>T (n.74-56C>T) n.252-56C>T c.1757-56C>T (n.1757-56C>T) c.644-56C>T (n.644-56C>T) c.1739-56C>T (n.1739-56C>T) c.1454-56C>T (n.1454-56C>T) c.236-56C>T (n.236-56C>T) n.628C>T | gnomAD v4 |
17 | g.63488593_63488596del | CA627148182 | ACE | c.2306-55_2306-52del (n.2306-55_2306-52del) c.584-55_584-52del (n.584-55_584-52del) c.*376-55_*376-52del (n.*376-55_*376-52del) c.510_513del (n.510_513del) c.607_610del (p.Leu203LysfsTer4) c.*226-55_*226-52del (n.*226-55_*226-52del) c.74-55_74-52del (n.74-55_74-52del) n.252-55_252-52del c.1757-55_1757-52del (n.1757-55_1757-52del) c.644-55_644-52del (n.644-55_644-52del) c.1739-55_1739-52del (n.1739-55_1739-52del) c.1454-55_1454-52del (n.1454-55_1454-52del) c.236-55_236-52del (n.236-55_236-52del) n.629_632del | gnomAD v2 |
17 | g.63488593T>C | CA8700039 | ACE | c.2306-55T>C (n.2306-55T>C) c.584-55T>C (n.584-55T>C) c.*376-55T>C (n.*376-55T>C) c.510T>C (n.510T>C) c.607T>C (p.Leu203=) c.*226-55T>C (n.*226-55T>C) c.74-55T>C (n.74-55T>C) n.252-55T>C c.1757-55T>C (n.1757-55T>C) c.644-55T>C (n.644-55T>C) c.1739-55T>C (n.1739-55T>C) c.1454-55T>C (n.1454-55T>C) c.236-55T>C (n.236-55T>C) n.629T>C | dbSNP ExAC gnomAD v4 |
17 | g.63488593T>G | CA627148183 | ACE | c.2306-55T>G (n.2306-55T>G) c.584-55T>G (n.584-55T>G) c.*376-55T>G (n.*376-55T>G) c.510T>G (n.510T>G) c.607T>G (p.Leu203Val) c.*226-55T>G (n.*226-55T>G) c.74-55T>G (n.74-55T>G) n.252-55T>G c.1757-55T>G (n.1757-55T>G) c.644-55T>G (n.644-55T>G) c.1739-55T>G (n.1739-55T>G) c.1454-55T>G (n.1454-55T>G) c.236-55T>G (n.236-55T>G) n.629T>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488593T= | CA2269945891 | ACE | c.2306-55T= (n.2306-55T=) c.584-55T= (n.584-55T=) c.*376-55T= (n.*376-55T=) c.510T= (n.510T=) c.607T= (p.Leu203=) c.*226-55T= (n.*226-55T=) c.74-55T= (n.74-55T=) n.252-55T= c.1757-55T= (n.1757-55T=) c.644-55T= (n.644-55T=) c.1739-55T= (n.1739-55T=) c.1454-55T= (n.1454-55T=) c.236-55T= (n.236-55T=) n.629T= | |
17 | g.63488595_63488599delinsACAAG | CA2269945892 | ACE | c.2306-53_2306-49delinsACAAG (n.2306-53_2306-49delinsACAAG) c.584-53_584-49delinsACAAG (n.584-53_584-49delinsACAAG) c.*376-53_*376-49delinsACAAG (n.*376-53_*376-49delinsACAAG) c.512_516delinsACAAG (n.512_516delinsACAAG) c.609_613delinsACAAG (p.Leu203=) c.*226-53_*226-49delinsACAAG (n.*226-53_*226-49delinsACAAG) c.74-53_74-49delinsACAAG (n.74-53_74-49delinsACAAG) n.252-53_252-49delinsACAAG c.1757-53_1757-49delinsACAAG (n.1757-53_1757-49delinsACAAG) c.644-53_644-49delinsACAAG (n.644-53_644-49delinsACAAG) c.1739-53_1739-49delinsACAAG (n.1739-53_1739-49delinsACAAG) c.1454-53_1454-49delinsACAAG (n.1454-53_1454-49delinsACAAG) c.236-53_236-49delinsACAAG (n.236-53_236-49delinsACAAG) n.631_635delinsACAAG | |
17 | g.63488596C>A | CA2639263689 | ACE | c.2306-52C>A (n.2306-52C>A) c.584-52C>A (n.584-52C>A) c.*376-52C>A (n.*376-52C>A) c.513C>A (n.513C>A) c.610C>A (p.Gln204Lys) c.*226-52C>A (n.*226-52C>A) c.74-52C>A (n.74-52C>A) n.252-52C>A c.1757-52C>A (n.1757-52C>A) c.644-52C>A (n.644-52C>A) c.1739-52C>A (n.1739-52C>A) c.1454-52C>A (n.1454-52C>A) c.236-52C>A (n.236-52C>A) n.632C>A | gnomAD v4 |
17 | g.63488596C= | CA2269945893 | ACE | c.2306-52C= (n.2306-52C=) c.584-52C= (n.584-52C=) c.*376-52C= (n.*376-52C=) c.513C= (n.513C=) c.610C= (p.Gln204=) c.*226-52C= (n.*226-52C=) c.74-52C= (n.74-52C=) n.252-52C= c.1757-52C= (n.1757-52C=) c.644-52C= (n.644-52C=) c.1739-52C= (n.1739-52C=) c.1454-52C= (n.1454-52C=) c.236-52C= (n.236-52C=) n.632C= | |
17 | g.63488596C>T | CA2269945894 | ACE | c.2306-52C>T (n.2306-52C>T) c.584-52C>T (n.584-52C>T) c.*376-52C>T (n.*376-52C>T) c.513C>T (n.513C>T) c.610C>T (p.Gln204Ter) c.*226-52C>T (n.*226-52C>T) c.74-52C>T (n.74-52C>T) n.252-52C>T c.1757-52C>T (n.1757-52C>T) c.644-52C>T (n.644-52C>T) c.1739-52C>T (n.1739-52C>T) c.1454-52C>T (n.1454-52C>T) c.236-52C>T (n.236-52C>T) n.632C>T | dbSNP gnomAD v4 |
17 | g.63488598_63488601del | CA8700040 | ACE | c.2306-50_2306-47del (n.2306-50_2306-47del) c.584-50_584-47del (n.584-50_584-47del) c.*376-50_*376-47del (n.*376-50_*376-47del) c.515_518del (n.515_518del) c.612_615del (p.Ala205ArgfsTer2) c.*226-50_*226-47del (n.*226-50_*226-47del) c.74-50_74-47del (n.74-50_74-47del) n.252-50_252-47del c.1757-50_1757-47del (n.1757-50_1757-47del) c.644-50_644-47del (n.644-50_644-47del) c.1739-50_1739-47del (n.1739-50_1739-47del) c.1454-50_1454-47del (n.1454-50_1454-47del) c.236-50_236-47del (n.236-50_236-47del) n.634_637del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488597_63488618del | CA985411557 | ACE | c.2306-51_2306-30del (n.2306-51_2306-30del) c.584-51_584-30del (n.584-51_584-30del) c.*376-51_*376-30del (n.*376-51_*376-30del) c.514_535del (n.514_535del) c.611_*5del (n.[c.611_*5del;Gln204ArgfsTer12]) c.*226-51_*226-30del (n.*226-51_*226-30del) c.74-51_74-30del (n.74-51_74-30del) n.252-51_252-30del c.1757-51_1757-30del (n.1757-51_1757-30del) c.644-51_644-30del (n.644-51_644-30del) c.1739-51_1739-30del (n.1739-51_1739-30del) c.1454-51_1454-30del (n.1454-51_1454-30del) c.236-51_236-30del (n.236-51_236-30del) n.633_654del | gnomAD v3 gnomAD v4 |
17 | g.63488598A= | CA2269945895 | ACE | c.2306-50A= (n.2306-50A=) c.584-50A= (n.584-50A=) c.*376-50A= (n.*376-50A=) c.515A= (n.515A=) c.612A= (p.Gln204=) c.*226-50A= (n.*226-50A=) c.74-50A= (n.74-50A=) n.252-50A= c.1757-50A= (n.1757-50A=) c.644-50A= (n.644-50A=) c.1739-50A= (n.1739-50A=) c.1454-50A= (n.1454-50A=) c.236-50A= (n.236-50A=) n.634A= | |
17 | g.63488598A>G | CA8700041 | ACE | c.2306-50A>G (n.2306-50A>G) c.584-50A>G (n.584-50A>G) c.*376-50A>G (n.*376-50A>G) c.515A>G (n.515A>G) c.612A>G (p.Gln204=) c.*226-50A>G (n.*226-50A>G) c.74-50A>G (n.74-50A>G) n.252-50A>G c.1757-50A>G (n.1757-50A>G) c.644-50A>G (n.644-50A>G) c.1739-50A>G (n.1739-50A>G) c.1454-50A>G (n.1454-50A>G) c.236-50A>G (n.236-50A>G) n.634A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63488601_63488610del | CA2639263690 | ACE | c.2306-47_2306-38del (n.2306-47_2306-38del) c.584-47_584-38del (n.584-47_584-38del) c.*376-47_*376-38del (n.*376-47_*376-38del) c.518_527del (n.518_527del) c.615_624del (p.Glu206LysfsTer14) c.*226-47_*226-38del (n.*226-47_*226-38del) c.74-47_74-38del (n.74-47_74-38del) n.252-47_252-38del c.1757-47_1757-38del (n.1757-47_1757-38del) c.644-47_644-38del (n.644-47_644-38del) c.1739-47_1739-38del (n.1739-47_1739-38del) c.1454-47_1454-38del (n.1454-47_1454-38del) c.236-47_236-38del (n.236-47_236-38del) n.637_646del | gnomAD v4 |
17 | g.63488599G>A | CA8700042 | ACE | c.2306-49G>A (n.2306-49G>A) c.584-49G>A (n.584-49G>A) c.*376-49G>A (n.*376-49G>A) c.516G>A (n.516G>A) c.613G>A (p.Ala205Thr) c.*226-49G>A (n.*226-49G>A) c.74-49G>A (n.74-49G>A) n.252-49G>A c.1757-49G>A (n.1757-49G>A) c.644-49G>A (n.644-49G>A) c.1739-49G>A (n.1739-49G>A) c.1454-49G>A (n.1454-49G>A) c.236-49G>A (n.236-49G>A) n.635G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63488599G= | CA2269945896 | ACE | c.2306-49G= (n.2306-49G=) c.584-49G= (n.584-49G=) c.*376-49G= (n.*376-49G=) c.516G= (n.516G=) c.613G= (p.Ala205=) c.*226-49G= (n.*226-49G=) c.74-49G= (n.74-49G=) n.252-49G= c.1757-49G= (n.1757-49G=) c.644-49G= (n.644-49G=) c.1739-49G= (n.1739-49G=) c.1454-49G= (n.1454-49G=) c.236-49G= (n.236-49G=) n.635G= | |
17 | g.63488600C>A | CA2639263691 | ACE | c.2306-48C>A (n.2306-48C>A) c.584-48C>A (n.584-48C>A) c.*376-48C>A (n.*376-48C>A) c.517C>A (n.517C>A) c.614C>A (p.Ala205Glu) c.*226-48C>A (n.*226-48C>A) c.74-48C>A (n.74-48C>A) n.252-48C>A c.1757-48C>A (n.1757-48C>A) c.644-48C>A (n.644-48C>A) c.1739-48C>A (n.1739-48C>A) c.1454-48C>A (n.1454-48C>A) c.236-48C>A (n.236-48C>A) n.636C>A | gnomAD v4 |
17 | g.63488601A= | CA2269945897 | ACE | c.2306-47A= (n.2306-47A=) c.584-47A= (n.584-47A=) c.*376-47A= (n.*376-47A=) c.518A= (n.518A=) c.615A= (p.Ala205=) c.*226-47A= (n.*226-47A=) c.74-47A= (n.74-47A=) n.252-47A= c.1757-47A= (n.1757-47A=) c.644-47A= (n.644-47A=) c.1739-47A= (n.1739-47A=) c.1454-47A= (n.1454-47A=) c.236-47A= (n.236-47A=) n.637A= | |
17 | g.63488601A>G | CA627148184 | ACE | c.2306-47A>G (n.2306-47A>G) c.584-47A>G (n.584-47A>G) c.*376-47A>G (n.*376-47A>G) c.518A>G (n.518A>G) c.615A>G (p.Ala205=) c.*226-47A>G (n.*226-47A>G) c.74-47A>G (n.74-47A>G) n.252-47A>G c.1757-47A>G (n.1757-47A>G) c.644-47A>G (n.644-47A>G) c.1739-47A>G (n.1739-47A>G) c.1454-47A>G (n.1454-47A>G) c.236-47A>G (n.236-47A>G) n.637A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488601A>T | CA2810114498 | ACE | c.2306-47A>T (n.2306-47A>T) c.584-47A>T (n.584-47A>T) c.*376-47A>T (n.*376-47A>T) c.518A>T (n.518A>T) c.615A>T (p.Ala205=) c.*226-47A>T (n.*226-47A>T) c.74-47A>T (n.74-47A>T) n.252-47A>T c.1757-47A>T (n.1757-47A>T) c.644-47A>T (n.644-47A>T) c.1739-47A>T (n.1739-47A>T) c.1454-47A>T (n.1454-47A>T) c.236-47A>T (n.236-47A>T) n.637A>T | |
17 | g.63488602G>T | CA2639263692 | ACE | c.2306-46G>T (n.2306-46G>T) c.584-46G>T (n.584-46G>T) c.*376-46G>T (n.*376-46G>T) c.519G>T (n.519G>T) c.616G>T (p.Glu206Ter) c.*226-46G>T (n.*226-46G>T) c.74-46G>T (n.74-46G>T) n.252-46G>T c.1757-46G>T (n.1757-46G>T) c.644-46G>T (n.644-46G>T) c.1739-46G>T (n.1739-46G>T) c.1454-46G>T (n.1454-46G>T) c.236-46G>T (n.236-46G>T) n.638G>T | gnomAD v4 |
17 | g.63488603A= | CA2269945898 | ACE | c.2306-45A= (n.2306-45A=) c.584-45A= (n.584-45A=) c.*376-45A= (n.*376-45A=) c.520A= (n.520A=) c.617A= (p.Glu206=) c.*226-45A= (n.*226-45A=) c.74-45A= (n.74-45A=) n.252-45A= c.1757-45A= (n.1757-45A=) c.644-45A= (n.644-45A=) c.1739-45A= (n.1739-45A=) c.1454-45A= (n.1454-45A=) c.236-45A= (n.236-45A=) n.639A= | |
17 | g.63488603A>C | CA627148185 | ACE | c.2306-45A>C (n.2306-45A>C) c.584-45A>C (n.584-45A>C) c.*376-45A>C (n.*376-45A>C) c.520A>C (n.520A>C) c.617A>C (p.Glu206Ala) c.*226-45A>C (n.*226-45A>C) c.74-45A>C (n.74-45A>C) n.252-45A>C c.1757-45A>C (n.1757-45A>C) c.644-45A>C (n.644-45A>C) c.1739-45A>C (n.1739-45A>C) c.1454-45A>C (n.1454-45A>C) c.236-45A>C (n.236-45A>C) n.639A>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488603A>G | CA8700043 | ACE | c.2306-45A>G (n.2306-45A>G) c.584-45A>G (n.584-45A>G) c.*376-45A>G (n.*376-45A>G) c.520A>G (n.520A>G) c.617A>G (p.Glu206Gly) c.*226-45A>G (n.*226-45A>G) c.74-45A>G (n.74-45A>G) n.252-45A>G c.1757-45A>G (n.1757-45A>G) c.644-45A>G (n.644-45A>G) c.1739-45A>G (n.1739-45A>G) c.1454-45A>G (n.1454-45A>G) c.236-45A>G (n.236-45A>G) n.639A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63488603A>T | CA627148186 | ACE | c.2306-45A>T (n.2306-45A>T) c.584-45A>T (n.584-45A>T) c.*376-45A>T (n.*376-45A>T) c.520A>T (n.520A>T) c.617A>T (p.Glu206Val) c.*226-45A>T (n.*226-45A>T) c.74-45A>T (n.74-45A>T) n.252-45A>T c.1757-45A>T (n.1757-45A>T) c.644-45A>T (n.644-45A>T) c.1739-45A>T (n.1739-45A>T) c.1454-45A>T (n.1454-45A>T) c.236-45A>T (n.236-45A>T) n.639A>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488604G>A | CA292883217 | ACE | c.2306-44G>A (n.2306-44G>A) c.584-44G>A (n.584-44G>A) c.*376-44G>A (n.*376-44G>A) c.521G>A (n.521G>A) c.618G>A (p.Glu206=) c.*226-44G>A (n.*226-44G>A) c.74-44G>A (n.74-44G>A) n.252-44G>A c.1757-44G>A (n.1757-44G>A) c.644-44G>A (n.644-44G>A) c.1739-44G>A (n.1739-44G>A) c.1454-44G>A (n.1454-44G>A) c.236-44G>A (n.236-44G>A) n.640G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488604G= | CA2269945899 | ACE | c.2306-44G= (n.2306-44G=) c.584-44G= (n.584-44G=) c.*376-44G= (n.*376-44G=) c.521G= (n.521G=) c.618G= (p.Glu206=) c.*226-44G= (n.*226-44G=) c.74-44G= (n.74-44G=) n.252-44G= c.1757-44G= (n.1757-44G=) c.644-44G= (n.644-44G=) c.1739-44G= (n.1739-44G=) c.1454-44G= (n.1454-44G=) c.236-44G= (n.236-44G=) n.640G= | |
17 | g.63488606T>C | CA2639263693 | ACE | c.2306-42T>C (n.2306-42T>C) c.584-42T>C (n.584-42T>C) c.*376-42T>C (n.*376-42T>C) c.523T>C (n.523T>C) c.620T>C (p.Val207Ala) c.*226-42T>C (n.*226-42T>C) c.74-42T>C (n.74-42T>C) n.252-42T>C c.1757-42T>C (n.1757-42T>C) c.644-42T>C (n.644-42T>C) c.1739-42T>C (n.1739-42T>C) c.1454-42T>C (n.1454-42T>C) c.236-42T>C (n.236-42T>C) n.642T>C | gnomAD v4 |
17 | g.63488606T>G | CA985411558 | ACE | c.2306-42T>G (n.2306-42T>G) c.584-42T>G (n.584-42T>G) c.*376-42T>G (n.*376-42T>G) c.523T>G (n.523T>G) c.620T>G (p.Val207Gly) c.*226-42T>G (n.*226-42T>G) c.74-42T>G (n.74-42T>G) n.252-42T>G c.1757-42T>G (n.1757-42T>G) c.644-42T>G (n.644-42T>G) c.1739-42T>G (n.1739-42T>G) c.1454-42T>G (n.1454-42T>G) c.236-42T>G (n.236-42T>G) n.642T>G | gnomAD v3 gnomAD v4 |
17 | g.63488607G>A | CA627148279 | ACE | c.2306-41G>A (n.2306-41G>A) c.584-41G>A (n.584-41G>A) c.*376-41G>A (n.*376-41G>A) c.524G>A (n.524G>A) c.621G>A (p.Val207=) c.*226-41G>A (n.*226-41G>A) c.74-41G>A (n.74-41G>A) n.252-41G>A c.1757-41G>A (n.1757-41G>A) c.644-41G>A (n.644-41G>A) c.1739-41G>A (n.1739-41G>A) c.1454-41G>A (n.1454-41G>A) c.236-41G>A (n.236-41G>A) n.643G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488607G= | CA2269945900 | ACE | c.2306-41G= (n.2306-41G=) c.584-41G= (n.584-41G=) c.*376-41G= (n.*376-41G=) c.524G= (n.524G=) c.621G= (p.Val207=) c.*226-41G= (n.*226-41G=) c.74-41G= (n.74-41G=) n.252-41G= c.1757-41G= (n.1757-41G=) c.644-41G= (n.644-41G=) c.1739-41G= (n.1739-41G=) c.1454-41G= (n.1454-41G=) c.236-41G= (n.236-41G=) n.643G= | |
17 | g.63488607G>T | CA985411562 | ACE | c.2306-41G>T (n.2306-41G>T) c.584-41G>T (n.584-41G>T) c.*376-41G>T (n.*376-41G>T) c.524G>T (n.524G>T) c.621G>T (p.Val207=) c.*226-41G>T (n.*226-41G>T) c.74-41G>T (n.74-41G>T) n.252-41G>T c.1757-41G>T (n.1757-41G>T) c.644-41G>T (n.644-41G>T) c.1739-41G>T (n.1739-41G>T) c.1454-41G>T (n.1454-41G>T) c.236-41G>T (n.236-41G>T) n.643G>T | gnomAD v3 gnomAD v4 |
17 | g.63488608A>C | CA2576350616 | ACE | c.2306-40A>C (n.2306-40A>C) c.584-40A>C (n.584-40A>C) c.*376-40A>C (n.*376-40A>C) c.525A>C (n.525A>C) c.622A>C (p.Ser208Arg) c.*226-40A>C (n.*226-40A>C) c.74-40A>C (n.74-40A>C) n.252-40A>C c.1757-40A>C (n.1757-40A>C) c.644-40A>C (n.644-40A>C) c.1739-40A>C (n.1739-40A>C) c.1454-40A>C (n.1454-40A>C) c.236-40A>C (n.236-40A>C) n.644A>C | gnomAD v4 |
17 | g.63488609G>A | CA773967012 | ACE | c.2306-39G>A (n.2306-39G>A) c.584-39G>A (n.584-39G>A) c.*376-39G>A (n.*376-39G>A) c.526G>A (n.526G>A) c.623G>A (p.Ser208Asn) c.*226-39G>A (n.*226-39G>A) c.74-39G>A (n.74-39G>A) n.252-39G>A c.1757-39G>A (n.1757-39G>A) c.644-39G>A (n.644-39G>A) c.1739-39G>A (n.1739-39G>A) c.1454-39G>A (n.1454-39G>A) c.236-39G>A (n.236-39G>A) n.645G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488609G= | CA2269945901 | ACE | c.2306-39G= (n.2306-39G=) c.584-39G= (n.584-39G=) c.*376-39G= (n.*376-39G=) c.526G= (n.526G=) c.623G= (p.Ser208=) c.*226-39G= (n.*226-39G=) c.74-39G= (n.74-39G=) n.252-39G= c.1757-39G= (n.1757-39G=) c.644-39G= (n.644-39G=) c.1739-39G= (n.1739-39G=) c.1454-39G= (n.1454-39G=) c.236-39G= (n.236-39G=) n.645G= | |
17 | g.63488613A= | CA2269945902 | ACE | c.2306-35A= (n.2306-35A=) c.584-35A= (n.584-35A=) c.*376-35A= (n.*376-35A=) c.530A= (n.530A=) c.627A= (p.Ter209=) c.*226-35A= (n.*226-35A=) c.74-35A= (n.74-35A=) n.252-35A= c.1757-35A= (n.1757-35A=) c.644-35A= (n.644-35A=) c.1739-35A= (n.1739-35A=) c.1454-35A= (n.1454-35A=) c.236-35A= (n.236-35A=) n.649A= |