Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
16 | g.56885321T>A | CA395991531 | SLC12A3 | c.1882T>A (p.Ser628Thr) c.1879T>A (p.Ser627Thr) | gnomAD v4 |
16 | g.56885321T>C | CA395991532 | SLC12A3 | c.1882T>C (p.Ser628Pro) c.1879T>C (p.Ser627Pro) | gnomAD v4 |
16 | g.56885321T>G | CA395991534 | SLC12A3 | c.1882T>G (p.Ser628Ala) c.1879T>G (p.Ser627Ala) | |
16 | g.56885322C>A | CA395991537 | SLC12A3 | c.1883C>A (p.Ser628Ter) c.1880C>A (p.Ser627Ter) | gnomAD v4 |
16 | g.56885322C= | CA2224356668 | SLC12A3 | c.1883C= (p.Ser628=) c.1880C= (p.Ser627=) | |
16 | g.56885322C>G | CA395991540 | SLC12A3 | c.1883C>G (p.Ser628Trp) c.1880C>G (p.Ser627Trp) | |
16 | g.56885322C>T | CA8069646 | SLC12A3 | c.1883C>T (p.Ser628Leu) c.1880C>T (p.Ser627Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56885323G>A | CA8069647 | SLC12A3 | c.1884G>A (p.Ser628=) c.1881G>A (p.Ser627=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56885323G>C | CA281505351 | SLC12A3 | c.1884G>C (p.Ser628=) c.1881G>C (p.Ser627=) | dbSNP gnomAD v4 |
16 | g.56885323G= | CA2224356669 | SLC12A3 | c.1884G= (p.Ser628=) c.1881G= (p.Ser627=) | |
16 | g.56885323G>T | CA495604650 | SLC12A3 | c.1884G>T (p.Ser628=) c.1881G>T (p.Ser627=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56885324G>A | CA395991548 | SLC12A3 | c.1885G>A (p.Val629Met) c.1882G>A (p.Val628Met) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56885324G>C | CA395991550 | SLC12A3 | c.1885G>C (p.Val629Leu) c.1882G>C (p.Val628Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56885324G= | CA2224356670 | SLC12A3 | c.1885G= (p.Val629=) c.1882G= (p.Val628=) | |
16 | g.56885324G>T | CA395991552 | SLC12A3 | c.1885G>T (p.Val629Leu) c.1882G>T (p.Val628Leu) | gnomAD v4 |
16 | g.56885325T>A | CA395991556 | SLC12A3 | c.1886T>A (p.Val629Glu) c.1883T>A (p.Val628Glu) | |
16 | g.56885325T>C | CA395991558 | SLC12A3 | c.1886T>C (p.Val629Ala) c.1883T>C (p.Val628Ala) | gnomAD v4 |
16 | g.56885325T>G | CA395991554 | SLC12A3 | c.1886T>G (p.Val629Gly) c.1883T>G (p.Val628Gly) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56885325T= | CA2224356671 | SLC12A3 | c.1886T= (p.Val629=) c.1883T= (p.Val628=) | |
16 | g.56885326G>A | CA495604651 | SLC12A3 | c.1887G>A (p.Val629=) c.1884G>A (p.Val628=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56885326G>C | CA495604652 | SLC12A3 | c.1887G>C (p.Val629=) c.1884G>C (p.Val628=) | |
16 | g.56885326G= | CA2224356672 | SLC12A3 | c.1887G= (p.Val629=) c.1884G= (p.Val628=) | |
16 | g.56885326G>T | CA495604653 | SLC12A3 | c.1887G>T (p.Val629=) c.1884G>T (p.Val628=) | gnomAD v4 |
16 | g.56885328del | CA2633373967 | SLC12A3 | c.1889del (p.Gly630AlafsTer?) c.1886del (p.Gly629AlafsTer?) | gnomAD v4 |
16 | g.56885327G>A | CA395991561 | SLC12A3 | c.1888G>A (p.Gly630Ser) c.1885G>A (p.Gly629Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56885327G>C | CA395991563 | SLC12A3 | c.1888G>C (p.Gly630Arg) c.1885G>C (p.Gly629Arg) | |
16 | g.56885327G= | CA2224356673 | SLC12A3 | c.1888G= (p.Gly630=) c.1885G= (p.Gly629=) | |
16 | g.56885327G>T | CA395991565 | SLC12A3 | c.1888G>T (p.Gly630Cys) c.1885G>T (p.Gly629Cys) | |
16 | g.56885328G>A | CA395991567 | SLC12A3 | c.1889G>A (p.Gly630Asp) c.1886G>A (p.Gly629Asp) | gnomAD v4 |
16 | g.56885328G>C | CA395991569 | SLC12A3 | c.1889G>C (p.Gly630Ala) c.1886G>C (p.Gly629Ala) | |
16 | g.56885328G= | CA2224356674 | SLC12A3 | c.1889G= (p.Gly630=) c.1886G= (p.Gly629=) | |
16 | g.56885328G>T | CA119778 | SLC12A3 | c.1889G>T (p.Gly630Val) c.1886G>T (p.Gly629Val) | ClinVar dbSNP gnomAD v4 |
16 | g.56885329C>A | CA495604654 | SLC12A3 | c.1890C>A (p.Gly630=) c.1887C>A (p.Gly629=) | gnomAD v4 |