| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56885307T>A | CA395991489 | SLC12A3 | c.1868T>A (p.Leu623Gln) c.1865T>A (p.Leu622Gln) | gnomAD v4 |
| 16 | g.56885307T>C | CA119780 | SLC12A3 | c.1868T>C (p.Leu623Pro) c.1865T>C (p.Leu622Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885307T>G | CA395991493 | SLC12A3 | c.1868T>G (p.Leu623Arg) c.1865T>G (p.Leu622Arg) | |
| 16 | g.56885307T= | CA2224356661 | SLC12A3 | c.1868T= (p.Leu623=) c.1865T= (p.Leu622=) | |
| 16 | g.56885308G>A | CA281505325 | SLC12A3 | c.1869G>A (p.Leu623=) c.1866G>A (p.Leu622=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885308G>C | CA495604640 | SLC12A3 | c.1869G>C (p.Leu623=) c.1866G>C (p.Leu622=) | |
| 16 | g.56885308G= | CA2224356662 | SLC12A3 | c.1869G= (p.Leu623=) c.1866G= (p.Leu622=) | |
| 16 | g.56885308G>T | CA495604641 | SLC12A3 | c.1869G>T (p.Leu623=) c.1866G>T (p.Leu622=) | gnomAD v4 |
| 16 | g.56885309G>A | CA395991501 | SLC12A3 | c.1870G>A (p.Ala624Thr) c.1867G>A (p.Ala623Thr) | gnomAD v4 |
| 16 | g.56885309G>C | CA395991503 | SLC12A3 | c.1870G>C (p.Ala624Pro) c.1867G>C (p.Ala623Pro) | |
| 16 | g.56885309G= | CA2224356663 | SLC12A3 | c.1870G= (p.Ala624=) c.1867G= (p.Ala623=) | |
| 16 | g.56885309G>T | CA395991505 | SLC12A3 | c.1870G>T (p.Ala624Ser) c.1867G>T (p.Ala623Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885310C>A | CA395991507 | SLC12A3 | c.1871C>A (p.Ala624Asp) c.1868C>A (p.Ala623Asp) | gnomAD v4 |
| 16 | g.56885310C= | CA2224356664 | SLC12A3 | c.1871C= (p.Ala624=) c.1868C= (p.Ala623=) | |
| 16 | g.56885310C>G | CA395991508 | SLC12A3 | c.1871C>G (p.Ala624Gly) c.1868C>G (p.Ala623Gly) | |
| 16 | g.56885310C>T | CA395991509 | SLC12A3 | c.1871C>T (p.Ala624Val) c.1868C>T (p.Ala623Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885311C>A | CA495604644 | SLC12A3 | c.1872C>A (p.Ala624=) c.1869C>A (p.Ala623=) | gnomAD v4 |
| 16 | g.56885311C>G | CA495604643 | SLC12A3 | c.1872C>G (p.Ala624=) c.1869C>G (p.Ala623=) | |
| 16 | g.56885311C>T | CA495604642 | SLC12A3 | c.1872C>T (p.Ala624=) c.1869C>T (p.Ala623=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56885312C>A | CA395991511 | SLC12A3 | c.1873C>A (p.Leu625Ile) c.1870C>A (p.Leu624Ile) | gnomAD v4 |
| 16 | g.56885312C>G | CA395991512 | SLC12A3 | c.1873C>G (p.Leu625Val) c.1870C>G (p.Leu624Val) | |
| 16 | g.56885312C>T | CA395991510 | SLC12A3 | c.1873C>T (p.Leu625Phe) c.1870C>T (p.Leu624Phe) | gnomAD v4 |
| 16 | g.56885313T>A | CA395991515 | SLC12A3 | c.1874T>A (p.Leu625His) c.1871T>A (p.Leu624His) | |
| 16 | g.56885313T>C | CA395991513 | SLC12A3 | c.1874T>C (p.Leu625Pro) c.1871T>C (p.Leu624Pro) | gnomAD v4 |
| 16 | g.56885313T>G | CA395991514 | SLC12A3 | c.1874T>G (p.Leu625Arg) c.1871T>G (p.Leu624Arg) | |
| 16 | g.56885314C>A | CA495604645 | SLC12A3 | c.1875C>A (p.Leu625=) c.1872C>A (p.Leu624=) | gnomAD v4 |
| 16 | g.56885314C>G | CA495604646 | SLC12A3 | c.1875C>G (p.Leu625=) c.1872C>G (p.Leu624=) | |
| 16 | g.56885314C>T | CA495604647 | SLC12A3 | c.1875C>T (p.Leu625=) c.1872C>T (p.Leu624=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56885315A= | CA2224356665 | SLC12A3 | c.1876A= (p.Ser626=) c.1873A= (p.Ser625=) | |
| 16 | g.56885315A>C | CA395991516 | SLC12A3 | c.1876A>C (p.Ser626Arg) c.1873A>C (p.Ser625Arg) | |
| 16 | g.56885315A>G | CA395991517 | SLC12A3 | c.1876A>G (p.Ser626Gly) c.1873A>G (p.Ser625Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56885315A>T | CA395991518 | SLC12A3 | c.1876A>T (p.Ser626Cys) c.1873A>T (p.Ser625Cys) | gnomAD v4 |
| 16 | g.56885315dup | CA2633373966 | SLC12A3 | c.1876dup (p.Ser626LysfsTer8) c.1873dup (p.Ser625LysfsTer8) | gnomAD v4 |
| 16 | g.56885316G>A | CA395991519 | SLC12A3 | c.1877G>A (p.Ser626Asn) c.1874G>A (p.Ser625Asn) | |
| 16 | g.56885316G>C | CA395991520 | SLC12A3 | c.1877G>C (p.Ser626Thr) c.1874G>C (p.Ser625Thr) | |
| 16 | g.56885316G>T | CA395991521 | SLC12A3 | c.1877G>T (p.Ser626Ile) c.1874G>T (p.Ser625Ile) | |
| 16 | g.56885317C>A | CA395991522 | SLC12A3 | c.1878C>A (p.Ser626Arg) c.1875C>A (p.Ser625Arg) | gnomAD v4 |
| 16 | g.56885317C>G | CA395991523 | SLC12A3 | c.1878C>G (p.Ser626Arg) c.1875C>G (p.Ser625Arg) | |
| 16 | g.56885317C>T | CA495604648 | SLC12A3 | c.1878C>T (p.Ser626=) c.1875C>T (p.Ser625=) | gnomAD v4 |
| 16 | g.56885318T>A | CA8069645 | SLC12A3 | c.1879T>A (p.Tyr627Asn) c.1876T>A (p.Tyr626Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56885318T>C | CA395991524 | SLC12A3 | c.1879T>C (p.Tyr627His) c.1876T>C (p.Tyr626His) | dbSNP |
| 16 | g.56885318T>G | CA395991525 | SLC12A3 | c.1879T>G (p.Tyr627Asp) c.1876T>G (p.Tyr626Asp) | |
| 16 | g.56885318T= | CA2224356666 | SLC12A3 | c.1879T= (p.Tyr627=) c.1876T= (p.Tyr626=) | |
| 16 | g.56885319A>C | CA395991528 | SLC12A3 | c.1880A>C (p.Tyr627Ser) c.1877A>C (p.Tyr626Ser) | |
| 16 | g.56885319A>G | CA395991526 | SLC12A3 | c.1880A>G (p.Tyr627Cys) c.1877A>G (p.Tyr626Cys) | gnomAD v4 |
| 16 | g.56885319A>T | CA395991527 | SLC12A3 | c.1880A>T (p.Tyr627Phe) c.1877A>T (p.Tyr626Phe) | gnomAD v4 |
| 16 | g.56885320C>A | CA395991529 | SLC12A3 | c.1881C>A (p.Tyr627Ter) c.1878C>A (p.Tyr626Ter) | |
| 16 | g.56885320C= | CA2224356667 | SLC12A3 | c.1881C= (p.Tyr627=) c.1878C= (p.Tyr626=) | |
| 16 | g.56885320C>G | CA395991530 | SLC12A3 | c.1881C>G (p.Tyr627Ter) c.1878C>G (p.Tyr626Ter) | |
| 16 | g.56885320C>T | CA495604649 | SLC12A3 | c.1881C>T (p.Tyr627=) c.1878C>T (p.Tyr626=) | ClinVar dbSNP gnomAD v4 |