Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
16 | g.56868353_56868356del | CA2580091676 | SLC12A3 | c.486_489del (p.Ile162MetfsTer8) c.483_486del (p.Ile161MetfsTer8) | ClinVar |
16 | g.56868353_56868357delinsA | CA2580091677 | SLC12A3 | c.486_490delinsA (p.Thr163ProfsTer7) c.483_487delinsA (p.Thr162ProfsTer7) | ClinVar |
16 | g.56868354_56868357del | CA2695223665 | SLC12A3 | c.487_490del (p.Thr163ProfsTer7) c.484_487del (p.Thr162ProfsTer7) | |
16 | g.56868355C>A | CA395979614 | SLC12A3 | c.488C>A (p.Thr163Lys) c.485C>A (p.Thr162Lys) | |
16 | g.56868355C= | CA2224348380 | SLC12A3 | c.488C= (p.Thr163=) c.485C= (p.Thr162=) | |
16 | g.56868355C>G | CA395979616 | SLC12A3 | c.488C>G (p.Thr163Arg) c.485C>G (p.Thr162Arg) | |
16 | g.56868355C>T | CA031919 | SLC12A3 | c.488C>T (p.Thr163Met) c.485C>T (p.Thr162Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.[56868355C>T;56894594G>A] | CA032069 | SLC12A3 | c.[488C>T;2585G>A] (p.[Thr163Met;Arg862His]) c.[485C>T;2582G>A] (p.[Thr162Met;Arg861His]) c.[488C>T;2612G>A] (p.[Thr163Met;Arg871His]) c.[485C>T;2609G>A] (p.[Thr162Met;Arg870His]) | ClinVar |
16 | g.56868356G>A | CA8069057 | SLC12A3 | c.489G>A (p.Thr163=) c.486G>A (p.Thr162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56868356G>C | CA495602811 | SLC12A3 | c.489G>C (p.Thr163=) c.486G>C (p.Thr162=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56868356G= | CA2224348381 | SLC12A3 | c.489G= (p.Thr163=) c.486G= (p.Thr162=) | |
16 | g.56868356G>T | CA495602812 | SLC12A3 | c.489G>T (p.Thr163=) c.486G>T (p.Thr162=) | |
16 | g.56868357G>A | CA395979621 | SLC12A3 | c.490G>A (p.Ala164Thr) c.487G>A (p.Ala163Thr) | gnomAD v4 |
16 | g.56868357G>C | CA395979623 | SLC12A3 | c.490G>C (p.Ala164Pro) c.487G>C (p.Ala163Pro) | |
16 | g.56868357G>T | CA395979625 | SLC12A3 | c.490G>T (p.Ala164Ser) c.487G>T (p.Ala163Ser) | |
16 | g.56868358C>A | CA395979627 | SLC12A3 | c.491C>A (p.Ala164Asp) c.488C>A (p.Ala163Asp) | dbSNP |
16 | g.56868358C= | CA2224348382 | SLC12A3 | c.491C= (p.Ala164=) c.488C= (p.Ala163=) | |
16 | g.56868358C>G | CA395979629 | SLC12A3 | c.491C>G (p.Ala164Gly) c.488C>G (p.Ala163Gly) | |
16 | g.56868358C>T | CA8069058 | SLC12A3 | c.491C>T (p.Ala164Val) c.488C>T (p.Ala163Val) | dbSNP ExAC gnomAD v2 |
16 | g.56868359C>A | CA495602813 | SLC12A3 | c.492C>A (p.Ala164=) c.489C>A (p.Ala163=) | |
16 | g.56868359C>G | CA495602815 | SLC12A3 | c.492C>G (p.Ala164=) c.489C>G (p.Ala163=) | |
16 | g.56868359C>T | CA495602814 | SLC12A3 | c.492C>T (p.Ala164=) c.489C>T (p.Ala163=) | gnomAD v4 |
16 | g.56868360C>A | CA395979637 | SLC12A3 | c.493C>A (p.Gln165Lys) c.490C>A (p.Gln164Lys) | |
16 | g.56868360C>G | CA395979634 | SLC12A3 | c.493C>G (p.Gln165Glu) c.490C>G (p.Gln164Glu) | |
16 | g.56868360C>T | CA395979633 | SLC12A3 | c.493C>T (p.Gln165Ter) c.490C>T (p.Gln164Ter) | |
16 | g.56868361A>C | CA395979639 | SLC12A3 | c.494A>C (p.Gln165Pro) c.491A>C (p.Gln164Pro) | |
16 | g.56868361A>G | CA395979641 | SLC12A3 | c.494A>G (p.Gln165Arg) c.491A>G (p.Gln164Arg) | gnomAD v4 |
16 | g.56868361A>T | CA395979643 | SLC12A3 | c.494A>T (p.Gln165Leu) c.491A>T (p.Gln164Leu) | |
16 | g.56868361dup | CA2633371566 | SLC12A3 | c.494dup (p.Ala166GlyfsTer?) c.491dup (p.Ala165GlyfsTer?) | gnomAD v4 |
16 | g.56868362G>A | CA495602816 | SLC12A3 | c.495G>A (p.Gln165=) c.492G>A (p.Gln164=) | |
16 | g.56868362G>C | CA395979645 | SLC12A3 | c.495G>C (p.Gln165His) c.492G>C (p.Gln164His) | gnomAD v4 |
16 | g.56868362G>T | CA395979647 | SLC12A3 | c.495G>T (p.Gln165His) c.492G>T (p.Gln164His) | |
16 | g.56868363G>A | CA395979649 | SLC12A3 | c.496G>A (p.Ala166Thr) c.493G>A (p.Ala165Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56868363G>C | CA395979651 | SLC12A3 | c.496G>C (p.Ala166Pro) c.493G>C (p.Ala165Pro) | |
16 | g.56868363G= | CA2224348383 | SLC12A3 | c.496G= (p.Ala166=) c.493G= (p.Ala165=) | |
16 | g.56868363G>T | CA395979652 | SLC12A3 | c.496G>T (p.Ala166Ser) c.493G>T (p.Ala165Ser) | |
16 | g.56868364C>A | CA395979656 | SLC12A3 | c.497C>A (p.Ala166Glu) c.494C>A (p.Ala165Glu) | |
16 | g.56868364C= | CA2224348384 | SLC12A3 | c.497C= (p.Ala166=) c.494C= (p.Ala165=) | |
16 | g.56868364C>G | CA395979657 | SLC12A3 | c.497C>G (p.Ala166Gly) c.494C>G (p.Ala165Gly) | |
16 | g.56868364C>T | CA281493591 | SLC12A3 | c.497C>T (p.Ala166Val) c.494C>T (p.Ala165Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56868365_56868371del | CA2576001775 | SLC12A3 | c.498_504del (p.Gly167SerfsTer2) c.495_501del (p.Gly166SerfsTer2) | |
16 | g.56868365A>C | CA495602817 | SLC12A3 | c.498A>C (p.Ala166=) c.495A>C (p.Ala165=) | |
16 | g.56868365A>G | CA495602819 | SLC12A3 | c.498A>G (p.Ala166=) c.495A>G (p.Ala165=) | |
16 | g.56868365A>T | CA495602818 | SLC12A3 | c.498A>T (p.Ala166=) c.495A>T (p.Ala165=) | |
16 | g.56868366G>A | CA395979665 | SLC12A3 | c.499G>A (p.Gly167Ser) c.496G>A (p.Gly166Ser) | |
16 | g.56868366G>C | CA395979663 | SLC12A3 | c.499G>C (p.Gly167Arg) c.496G>C (p.Gly166Arg) | |
16 | g.56868366G>T | CA395979661 | SLC12A3 | c.499G>T (p.Gly167Cys) c.496G>T (p.Gly166Cys) | |
16 | g.56868367G>A | CA395979666 | SLC12A3 | c.500G>A (p.Gly167Asp) c.497G>A (p.Gly166Asp) | |
16 | g.56868367G>C | CA395979668 | SLC12A3 | c.500G>C (p.Gly167Ala) c.497G>C (p.Gly166Ala) |