Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56885286T>A | CA395991379 | SLC12A3 | c.1847T>A (p.Val616Glu) c.1844T>A (p.Val615Glu) | gnomAD v4 |
16 | g.56885286T>C | CA395991380 | SLC12A3 | c.1847T>C (p.Val616Ala) c.1844T>C (p.Val615Ala) | gnomAD v4 |
16 | g.56885286T>G | CA395991383 | SLC12A3 | c.1847T>G (p.Val616Gly) c.1844T>G (p.Val615Gly) | dbSNP |
16 | g.56885286T= | CA2224356650 | SLC12A3 | c.1847T= (p.Val616=) c.1844T= (p.Val615=) | |
16 | g.56885287A>C | CA495604622 | SLC12A3 | c.1848A>C (p.Val616=) c.1845A>C (p.Val615=) | ClinVar |
16 | g.56885287A>G | CA495604623 | SLC12A3 | c.1848A>G (p.Val616=) c.1845A>G (p.Val615=) | |
16 | g.56885287A>T | CA495604624 | SLC12A3 | c.1848A>T (p.Val616=) c.1845A>T (p.Val615=) | |
16 | g.56885288C>A | CA395991386 | SLC12A3 | c.1849C>A (p.Gln617Lys) c.1846C>A (p.Gln616Lys) | gnomAD v4 |
16 | g.56885288C= | CA2224356651 | SLC12A3 | c.1849C= (p.Gln617=) c.1846C= (p.Gln616=) | |
16 | g.56885288C>G | CA395991388 | SLC12A3 | c.1849C>G (p.Gln617Glu) c.1846C>G (p.Gln616Glu) | |
16 | g.56885288C>T | CA281505313 | SLC12A3 | c.1849C>T (p.Gln617Ter) c.1846C>T (p.Gln616Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.56885289A= | CA2224356652 | SLC12A3 | c.1850A= (p.Gln617=) c.1847A= (p.Gln616=) | |
16 | g.56885289A>C | CA395991392 | SLC12A3 | c.1850A>C (p.Gln617Pro) c.1847A>C (p.Gln616Pro) | gnomAD v4 |
16 | g.56885289A>G | CA395991394 | SLC12A3 | c.1850A>G (p.Gln617Arg) c.1847A>G (p.Gln616Arg) | dbSNP gnomAD v4 |
16 | g.56885289A>T | CA395991396 | SLC12A3 | c.1850A>T (p.Gln617Leu) c.1847A>T (p.Gln616Leu) | |
16 | g.56885290G>A | CA495604625 | SLC12A3 | c.1851G>A (p.Gln617=) c.1848G>A (p.Gln616=) | dbSNP gnomAD v2 |
16 | g.56885290G>C | CA395991399 | SLC12A3 | c.1851G>C (p.Gln617His) c.1848G>C (p.Gln616His) | |
16 | g.56885290G= | CA2224356653 | SLC12A3 | c.1851G= (p.Gln617=) c.1848G= (p.Gln616=) | |
16 | g.56885290G>T | CA395991401 | SLC12A3 | c.1851G>T (p.Gln617His) c.1848G>T (p.Gln616His) | gnomAD v4 |
16 | g.56885291G>A | CA395991408 | SLC12A3 | c.1852G>A (p.Ala618Thr) c.1849G>A (p.Ala617Thr) | dbSNP gnomAD v4 |
16 | g.56885291G>C | CA395991406 | SLC12A3 | c.1852G>C (p.Ala618Pro) c.1849G>C (p.Ala617Pro) | |
16 | g.56885291G= | CA2224356654 | SLC12A3 | c.1852G= (p.Ala618=) c.1849G= (p.Ala617=) | |
16 | g.56885291G>T | CA395991404 | SLC12A3 | c.1852G>T (p.Ala618Ser) c.1849G>T (p.Ala617Ser) | dbSNP gnomAD v4 |
16 | g.56885292C>A | CA395991411 | SLC12A3 | c.1853C>A (p.Ala618Asp) c.1850C>A (p.Ala617Asp) | gnomAD v4 |
16 | g.56885292C>G | CA395991413 | SLC12A3 | c.1853C>G (p.Ala618Gly) c.1850C>G (p.Ala617Gly) | |
16 | g.56885292C>T | CA395991415 | SLC12A3 | c.1853C>T (p.Ala618Val) c.1850C>T (p.Ala617Val) | gnomAD v4 |
16 | g.56885293T>A | CA495604626 | SLC12A3 | c.1854T>A (p.Ala618=) c.1851T>A (p.Ala617=) | gnomAD v4 |
16 | g.56885293T>C | CA495604627 | SLC12A3 | c.1854T>C (p.Ala618=) c.1851T>C (p.Ala617=) | gnomAD v4 |
16 | g.56885293T>G | CA495604628 | SLC12A3 | c.1854T>G (p.Ala618=) c.1851T>G (p.Ala617=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56885293T= | CA2224356655 | SLC12A3 | c.1854T= (p.Ala618=) c.1851T= (p.Ala617=) | |
16 | g.56885294G>A | CA8069643 | SLC12A3 | c.1855G>A (p.Gly619Ser) c.1852G>A (p.Gly618Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56885294G>C | CA395991419 | SLC12A3 | c.1855G>C (p.Gly619Arg) c.1852G>C (p.Gly618Arg) | |
16 | g.56885294G= | CA2224356656 | SLC12A3 | c.1855G= (p.Gly619=) c.1852G= (p.Gly618=) | |
16 | g.56885294G>T | CA395991422 | SLC12A3 | c.1855G>T (p.Gly619Cys) c.1852G>T (p.Gly618Cys) | gnomAD v4 |
16 | g.56885295G>A | CA395991425 | SLC12A3 | c.1856G>A (p.Gly619Asp) c.1853G>A (p.Gly618Asp) | gnomAD v4 |
16 | g.56885295G>C | CA395991427 | SLC12A3 | c.1856G>C (p.Gly619Ala) c.1853G>C (p.Gly618Ala) | |
16 | g.56885295G>T | CA395991429 | SLC12A3 | c.1856G>T (p.Gly619Val) c.1853G>T (p.Gly618Val) | gnomAD v4 |
16 | g.56885296C>A | CA495604629 | SLC12A3 | c.1857C>A (p.Gly619=) c.1854C>A (p.Gly618=) | gnomAD v4 |
16 | g.56885296C>G | CA495604630 | SLC12A3 | c.1857C>G (p.Gly619=) c.1854C>G (p.Gly618=) | |
16 | g.56885296C>T | CA495604631 | SLC12A3 | c.1857C>T (p.Gly619=) c.1854C>T (p.Gly618=) | gnomAD v4 |
16 | g.56885298_56885300del | CA2741488986 | SLC12A3 | c.1859_1861del (p.Ser620del) c.1856_1858del (p.Ser619del) | |
16 | g.56885297T>A | CA395991433 | SLC12A3 | c.1858T>A (p.Ser620Thr) c.1855T>A (p.Ser619Thr) | |
16 | g.56885297T>C | CA395991434 | SLC12A3 | c.1858T>C (p.Ser620Pro) c.1855T>C (p.Ser619Pro) | |
16 | g.56885297T>G | CA395991436 | SLC12A3 | c.1858T>G (p.Ser620Ala) c.1855T>G (p.Ser619Ala) | |
16 | g.56885298C>A | CA395991445 | SLC12A3 | c.1859C>A (p.Ser620Tyr) c.1856C>A (p.Ser619Tyr) | gnomAD v4 |
16 | g.56885298C= | CA2224356657 | SLC12A3 | c.1859C= (p.Ser620=) c.1856C= (p.Ser619=) | |
16 | g.56885298C>G | CA395991442 | SLC12A3 | c.1859C>G (p.Ser620Cys) c.1856C>G (p.Ser619Cys) | |
16 | g.56885298C>T | CA395991440 | SLC12A3 | c.1859C>T (p.Ser620Phe) c.1856C>T (p.Ser619Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56885299C>A | CA495604632 | SLC12A3 | c.1860C>A (p.Ser620=) c.1857C>A (p.Ser619=) | gnomAD v4 |
16 | g.56885299C>G | CA495604633 | SLC12A3 | c.1860C>G (p.Ser620=) c.1857C>G (p.Ser619=) |