Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56887932G>A | CA8069789 | SLC12A3 | c.2186G>A (p.Gly729Asp) c.2183G>A (p.Gly728Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56887932G>C | CA395994553 | SLC12A3 | c.2186G>C (p.Gly729Ala) c.2183G>C (p.Gly728Ala) | gnomAD v4 |
16 | g.56887932G= | CA2224358065 | SLC12A3 | c.2186G= (p.Gly729=) c.2183G= (p.Gly728=) | |
16 | g.56887932G>T | CA8069788 | SLC12A3 | c.2186G>T (p.Gly729Val) c.2183G>T (p.Gly728Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887933T>A | CA495607407 | SLC12A3 | c.2187T>A (p.Gly729=) c.2184T>A (p.Gly728=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56887933T>C | CA495607410 | SLC12A3 | c.2187T>C (p.Gly729=) c.2184T>C (p.Gly728=) | gnomAD v4 |
16 | g.56887933T>G | CA495607413 | SLC12A3 | c.2187T>G (p.Gly729=) c.2184T>G (p.Gly728=) | |
16 | g.56887933T= | CA2224358066 | SLC12A3 | c.2187T= (p.Gly729=) c.2184T= (p.Gly728=) | |
16 | g.56887934C>A | CA395994555 | SLC12A3 | c.2188C>A (p.Leu730Ile) c.2185C>A (p.Leu729Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887934C= | CA2224358067 | SLC12A3 | c.2188C= (p.Leu730=) c.2185C= (p.Leu729=) | |
16 | g.56887934C>G | CA395994556 | SLC12A3 | c.2188C>G (p.Leu730Val) c.2185C>G (p.Leu729Val) | gnomAD v4 |
16 | g.56887934C>T | CA395994558 | SLC12A3 | c.2188C>T (p.Leu730Phe) c.2185C>T (p.Leu729Phe) | |
16 | g.56887935T>A | CA395994561 | SLC12A3 | c.2189T>A (p.Leu730His) c.2186T>A (p.Leu729His) | |
16 | g.56887935T>C | CA395994562 | SLC12A3 | c.2189T>C (p.Leu730Pro) c.2186T>C (p.Leu729Pro) | |
16 | g.56887935T>G | CA395994564 | SLC12A3 | c.2189T>G (p.Leu730Arg) c.2186T>G (p.Leu729Arg) | |
16 | g.56887936C>A | CA495607423 | SLC12A3 | c.2190C>A (p.Leu730=) c.2187C>A (p.Leu729=) | |
16 | g.56887936C= | CA2224358068 | SLC12A3 | c.2190C= (p.Leu730=) c.2187C= (p.Leu729=) | |
16 | g.56887936C>G | CA495607425 | SLC12A3 | c.2190C>G (p.Leu730=) c.2187C>G (p.Leu729=) | |
16 | g.56887936C>T | CA8069790 | SLC12A3 | c.2190C>T (p.Leu730=) c.2187C>T (p.Leu729=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887937G>A | CA8069791 | SLC12A3 | c.2191G>A (p.Gly731Arg) c.2188G>A (p.Gly730Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887937G>C | CA395994572 | SLC12A3 | c.2191G>C (p.Gly731Arg) c.2188G>C (p.Gly730Arg) | |
16 | g.56887937G= | CA2224358069 | SLC12A3 | c.2191G= (p.Gly731=) c.2188G= (p.Gly730=) | |
16 | g.56887937G>T | CA395994567 | SLC12A3 | c.2191G>T (p.Gly731Trp) c.2188G>T (p.Gly730Trp) | ClinVar |
16 | g.56887938_56887939del | CA2695223448 | SLC12A3 | c.2192_2193del (p.Gly731GlufsTer?) c.2189_2190del (p.Gly730GlufsTer?) | |
16 | g.56887938G>A | CA395994580 | SLC12A3 | c.2192G>A (p.Gly731Glu) c.2189G>A (p.Gly730Glu) | |
16 | g.56887938G>C | CA395994577 | SLC12A3 | c.2192G>C (p.Gly731Ala) c.2189G>C (p.Gly730Ala) | |
16 | g.56887938G>T | CA395994578 | SLC12A3 | c.2192G>T (p.Gly731Val) c.2189G>T (p.Gly730Val) | |
16 | g.56887939G>A | CA495607446 | SLC12A3 | c.2193G>A (p.Gly731=) c.2190G>A (p.Gly730=) | ClinVar dbSNP |
16 | g.56887939G>C | CA495607441 | SLC12A3 | c.2193G>C (p.Gly731=) c.2190G>C (p.Gly730=) | |
16 | g.56887939G>T | CA495607443 | SLC12A3 | c.2193G>T (p.Gly731=) c.2190G>T (p.Gly730=) | |
16 | g.56887940A>C | CA495607450 | SLC12A3 | c.2194A>C (p.Arg732=) c.2191A>C (p.Arg731=) | |
16 | g.56887940A>G | CA395994582 | SLC12A3 | c.2194A>G (p.Arg732Gly) c.2191A>G (p.Arg731Gly) | |
16 | g.56887940A>T | CA395994584 | SLC12A3 | c.2194A>T (p.Arg732Ter) c.2191A>T (p.Arg731Ter) | |
16 | g.56887941G>A | CA395994587 | SLC12A3 | c.2195G>A (p.Arg732Lys) c.2192G>A (p.Arg731Lys) | |
16 | g.56887941G>C | CA395994588 | SLC12A3 | c.2195G>C (p.Arg732Thr) c.2192G>C (p.Arg731Thr) | |
16 | g.56887941G= | CA2224358070 | SLC12A3 | c.2195G= (p.Arg732=) c.2192G= (p.Arg731=) | |
16 | g.56887941G>T | CA395994590 | SLC12A3 | c.2195G>T (p.Arg732Ile) c.2192G>T (p.Arg731Ile) | dbSNP |
16 | g.56887942A>C | CA395994592 | SLC12A3 | c.2196A>C (p.Arg732Ser) c.2193A>C (p.Arg731Ser) | |
16 | g.56887942A>G | CA495607459 | SLC12A3 | c.2196A>G (p.Arg732=) c.2193A>G (p.Arg731=) | |
16 | g.56887942A>T | CA395994593 | SLC12A3 | c.2196A>T (p.Arg732Ser) c.2193A>T (p.Arg731Ser) | |
16 | g.56887943A>C | CA395994595 | SLC12A3 | c.2197A>C (p.Met733Leu) c.2194A>C (p.Met732Leu) | |
16 | g.56887943A>G | CA395994597 | SLC12A3 | c.2197A>G (p.Met733Val) c.2194A>G (p.Met732Val) | |
16 | g.56887943A>T | CA395994599 | SLC12A3 | c.2197A>T (p.Met733Leu) c.2194A>T (p.Met732Leu) | |
16 | g.56887944T>A | CA395994602 | SLC12A3 | c.2198T>A (p.Met733Lys) c.2195T>A (p.Met732Lys) | |
16 | g.56887944T>C | CA395994604 | SLC12A3 | c.2198T>C (p.Met733Thr) c.2195T>C (p.Met732Thr) | gnomAD v4 |
16 | g.56887944T>G | CA395994601 | SLC12A3 | c.2198T>G (p.Met733Arg) c.2195T>G (p.Met732Arg) | |
16 | g.56887945G>A | CA395994606 | SLC12A3 | c.2199G>A (p.Met733Ile) c.2196G>A (p.Met732Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887945G>C | CA395994608 | SLC12A3 | c.2199G>C (p.Met733Ile) c.2196G>C (p.Met732Ile) | |
16 | g.56887945G= | CA2224358071 | SLC12A3 | c.2199G= (p.Met733=) c.2196G= (p.Met732=) | |
16 | g.56887945G>T | CA395994610 | SLC12A3 | c.2199G>T (p.Met733Ile) c.2196G>T (p.Met732Ile) | |
16 | g.56887946A>C | CA395994612 | SLC12A3 | c.2200A>C (p.Lys734Gln) c.2197A>C (p.Lys733Gln) | |
16 | g.56887946A>G | CA395994614 | SLC12A3 | c.2200A>G (p.Lys734Glu) c.2197A>G (p.Lys733Glu) | |
16 | g.56887946A>T | CA395994615 | SLC12A3 | c.2200A>T (p.Lys734Ter) c.2197A>T (p.Lys733Ter) | |
16 | g.56887947A>C | CA395994618 | SLC12A3 | c.2201A>C (p.Lys734Thr) c.2198A>C (p.Lys733Thr) | |
16 | g.56887947A>G | CA395994622 | SLC12A3 | c.2201A>G (p.Lys734Arg) c.2198A>G (p.Lys733Arg) | |
16 | g.56887947A>T | CA395994620 | SLC12A3 | c.2201A>T (p.Lys734Met) c.2198A>T (p.Lys733Met) | |
16 | g.56887948G>A | CA495607513 | SLC12A3 | c.2202G>A (p.Lys734=) c.2199G>A (p.Lys733=) | dbSNP |
16 | g.56887948G>C | CA395994624 | SLC12A3 | c.2202G>C (p.Lys734Asn) c.2199G>C (p.Lys733Asn) | |
16 | g.56887948G>T | CA395994626 | SLC12A3 | c.2202G>T (p.Lys734Asn) c.2199G>T (p.Lys733Asn) | |
16 | g.56887949C>A | CA395994628 | SLC12A3 | c.2203C>A (p.Pro735Thr) c.2200C>A (p.Pro734Thr) | |
16 | g.56887949C= | CA2224358072 | SLC12A3 | c.2203C= (p.Pro735=) c.2200C= (p.Pro734=) | |
16 | g.56887949C>G | CA395994630 | SLC12A3 | c.2203C>G (p.Pro735Ala) c.2200C>G (p.Pro734Ala) | |
16 | g.56887949C>T | CA395994632 | SLC12A3 | c.2203C>T (p.Pro735Ser) c.2200C>T (p.Pro734Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56887950C>A | CA8069792 | SLC12A3 | c.2204C>A (p.Pro735His) c.2201C>A (p.Pro734His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56887950C= | CA2224358073 | SLC12A3 | c.2204C= (p.Pro735=) c.2201C= (p.Pro734=) | |
16 | g.56887950C>G | CA281510062 | SLC12A3 | c.2204C>G (p.Pro735Arg) c.2201C>G (p.Pro734Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887950C>T | CA395994635 | SLC12A3 | c.2204C>T (p.Pro735Leu) c.2201C>T (p.Pro734Leu) | |
16 | g.56887951C>A | CA495607544 | SLC12A3 | c.2205C>A (p.Pro735=) c.2202C>A (p.Pro734=) | |
16 | g.56887951C>G | CA495607545 | SLC12A3 | c.2205C>G (p.Pro735=) c.2202C>G (p.Pro734=) | |
16 | g.56887951C>T | CA495607549 | SLC12A3 | c.2205C>T (p.Pro735=) c.2202C>T (p.Pro734=) | |
16 | g.56887952A>C | CA395994639 | SLC12A3 | c.2206A>C (p.Asn736His) c.2203A>C (p.Asn735His) | |
16 | g.56887952A>G | CA395994643 | SLC12A3 | c.2206A>G (p.Asn736Asp) c.2203A>G (p.Asn735Asp) | |
16 | g.56887952A>T | CA395994641 | SLC12A3 | c.2206A>T (p.Asn736Tyr) c.2203A>T (p.Asn735Tyr) | |
16 | g.56887953A= | CA2224358074 | SLC12A3 | c.2207A= (p.Asn736=) c.2204A= (p.Asn735=) | |
16 | g.56887953A>C | CA395994644 | SLC12A3 | c.2207A>C (p.Asn736Thr) c.2204A>C (p.Asn735Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56887953A>G | CA395994645 | SLC12A3 | c.2207A>G (p.Asn736Ser) c.2204A>G (p.Asn735Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.56887953A>T | CA395994647 | SLC12A3 | c.2207A>T (p.Asn736Ile) c.2204A>T (p.Asn735Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56887954C>A | CA395994649 | SLC12A3 | c.2208C>A (p.Asn736Lys) c.2205C>A (p.Asn735Lys) | |
16 | g.56887954C= | CA2224358075 | SLC12A3 | c.2208C= (p.Asn736=) c.2205C= (p.Asn735=) | |
16 | g.56887954C>G | CA395994651 | SLC12A3 | c.2208C>G (p.Asn736Lys) c.2205C>G (p.Asn735Lys) | |
16 | g.56887954C>T | CA8069793 | SLC12A3 | c.2208C>T (p.Asn736=) c.2205C>T (p.Asn735=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56887955A= | CA2224358076 | SLC12A3 | c.2209A= (p.Ile737=) c.2206A= (p.Ile736=) | |
16 | g.56887955A>C | CA395994654 | SLC12A3 | c.2209A>C (p.Ile737Leu) c.2206A>C (p.Ile736Leu) | |
16 | g.56887955A>G | CA395994655 | SLC12A3 | c.2209A>G (p.Ile737Val) c.2206A>G (p.Ile736Val) | |
16 | g.56887955A>T | CA395994657 | SLC12A3 | c.2209A>T (p.Ile737Phe) c.2206A>T (p.Ile736Phe) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56887956T>A | CA395994659 | SLC12A3 | c.2210T>A (p.Ile737Asn) c.2207T>A (p.Ile736Asn) | |
16 | g.56887956T>C | CA395994660 | SLC12A3 | c.2210T>C (p.Ile737Thr) c.2207T>C (p.Ile736Thr) | |
16 | g.56887956T>G | CA395994662 | SLC12A3 | c.2210T>G (p.Ile737Ser) c.2207T>G (p.Ile736Ser) | |
16 | g.56887957T>A | CA495607591 | SLC12A3 | c.2211T>A (p.Ile737=) c.2208T>A (p.Ile736=) | |
16 | g.56887957T>C | CA495607593 | SLC12A3 | c.2211T>C (p.Ile737=) c.2208T>C (p.Ile736=) | |
16 | g.56887957T>G | CA395994664 | SLC12A3 | c.2211T>G (p.Ile737Met) c.2208T>G (p.Ile736Met) | |
16 | g.56887957T= | CA2224358077 | SLC12A3 | c.2211T= (p.Ile737=) c.2208T= (p.Ile736=) | |
16 | g.56887958C>A | CA395994669 | SLC12A3 | c.2212C>A (p.Leu738Met) c.2209C>A (p.Leu737Met) | |
16 | g.56887958C>G | CA395994667 | SLC12A3 | c.2212C>G (p.Leu738Val) c.2209C>G (p.Leu737Val) | COSMIC |
16 | g.56887958C>T | CA495607603 | SLC12A3 | c.2212C>T (p.Leu738=) c.2209C>T (p.Leu737=) | ClinVar dbSNP gnomAD v4 |
16 | g.56887958dup | CA281510067 | SLC12A3 | c.2212dup (p.Leu738ProfsTer26) c.2209dup (p.Leu737ProfsTer26) | dbSNP |
16 | g.56887959T>A | CA395994671 | SLC12A3 | c.2213T>A (p.Leu738Gln) c.2210T>A (p.Leu737Gln) | |
16 | g.56887959T>C | CA395994673 | SLC12A3 | c.2213T>C (p.Leu738Pro) c.2210T>C (p.Leu737Pro) | |
16 | g.56887959T>G | CA395994675 | SLC12A3 | c.2213T>G (p.Leu738Arg) c.2210T>G (p.Leu737Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.56887960G>A | CA495607610 | SLC12A3 | c.2214G>A (p.Leu738=) c.2211G>A (p.Leu737=) | ClinVar |
16 | g.56887960G>C | CA495607607 | SLC12A3 | c.2214G>C (p.Leu738=) c.2211G>C (p.Leu737=) | |
16 | g.56887960G>T | CA495607608 | SLC12A3 | c.2214G>T (p.Leu738=) c.2211G>T (p.Leu737=) | |
16 | g.56887961G>A | CA395994678 | SLC12A3 | c.2215G>A (p.Val739Met) c.2212G>A (p.Val738Met) | |
16 | g.56887961G>C | CA395994680 | SLC12A3 | c.2215G>C (p.Val739Leu) c.2212G>C (p.Val738Leu) | |
16 | g.56887961G>T | CA395994682 | SLC12A3 | c.2215G>T (p.Val739Leu) c.2212G>T (p.Val738Leu) | |
16 | g.56887962_56887963del | CA2695223452 | SLC12A3 | c.2216_2217del (p.Val739GlyfsTer24) c.2213_2214del (p.Val738GlyfsTer24) | |
16 | g.56887962T>A | CA395994685 | SLC12A3 | c.2216T>A (p.Val739Glu) c.2213T>A (p.Val738Glu) | |
16 | g.56887962T>C | CA395994687 | SLC12A3 | c.2216T>C (p.Val739Ala) c.2213T>C (p.Val738Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56887962T>G | CA395994689 | SLC12A3 | c.2216T>G (p.Val739Gly) c.2213T>G (p.Val738Gly) | |
16 | g.56887962T= | CA2224358078 | SLC12A3 | c.2216T= (p.Val739=) c.2213T= (p.Val738=) | |
16 | g.56887963G>A | CA8069794 | SLC12A3 | c.2217G>A (p.Val739=) c.2214G>A (p.Val738=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56887963G>C | CA495607618 | SLC12A3 | c.2217G>C (p.Val739=) c.2214G>C (p.Val738=) | |
16 | g.56887963G= | CA2224358079 | SLC12A3 | c.2217G= (p.Val739=) c.2214G= (p.Val738=) | |
16 | g.56887963G>T | CA495607621 | SLC12A3 | c.2217G>T (p.Val739=) c.2214G>T (p.Val738=) | |
16 | g.56887964G>A | CA395994697 | SLC12A3 | c.2218G>A (p.Val740Ile) c.2215G>A (p.Val739Ile) | |
16 | g.56887964G>C | CA395994695 | SLC12A3 | c.2218G>C (p.Val740Leu) c.2215G>C (p.Val739Leu) | |
16 | g.56887964G>T | CA395994693 | SLC12A3 | c.2218G>T (p.Val740Phe) c.2215G>T (p.Val739Phe) | |
16 | g.56887965T>A | CA395994698 | SLC12A3 | c.2219T>A (p.Val740Asp) c.2216T>A (p.Val739Asp) | |
16 | g.56887965T>C | CA395994699 | SLC12A3 | c.2219T>C (p.Val740Ala) c.2216T>C (p.Val739Ala) | gnomAD v4 |
16 | g.56887965T>G | CA395994701 | SLC12A3 | c.2219T>G (p.Val740Gly) c.2216T>G (p.Val739Gly) | |
16 | g.56887966T>A | CA495607645 | SLC12A3 | c.2220T>A (p.Val740=) c.2217T>A (p.Val739=) | |
16 | g.56887966T>C | CA495607666 | SLC12A3 | c.2220T>C (p.Val740=) c.2217T>C (p.Val739=) | dbSNP |
16 | g.56887966T>G | CA495607663 | SLC12A3 | c.2220T>G (p.Val740=) c.2217T>G (p.Val739=) | |
16 | g.56887967G>A | CA204579 | SLC12A3 | c.2221G>A (p.Gly741Arg) c.2218G>A (p.Gly740Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887967G>C | CA395994702 | SLC12A3 | c.2221G>C (p.Gly741Arg) c.2218G>C (p.Gly740Arg) | |
16 | g.56887967G= | CA2224358080 | SLC12A3 | c.2221G= (p.Gly741=) c.2218G= (p.Gly740=) | |
16 | g.56887967G>T | CA395994705 | SLC12A3 | c.2221G>T (p.Gly741Trp) c.2218G>T (p.Gly740Trp) | |
16 | g.56887968G>A | CA395994707 | SLC12A3 | c.2222G>A (p.Gly741Glu) c.2219G>A (p.Gly740Glu) | dbSNP gnomAD v4 |
16 | g.56887968G>C | CA395994708 | SLC12A3 | c.2222G>C (p.Gly741Ala) c.2219G>C (p.Gly740Ala) | |
16 | g.56887968G= | CA2224358081 | SLC12A3 | c.2222G= (p.Gly741=) c.2219G= (p.Gly740=) | |
16 | g.56887968G>T | CA395994710 | SLC12A3 | c.2222G>T (p.Gly741Val) c.2219G>T (p.Gly740Val) | |
16 | g.56887969G>A | CA495607684 | SLC12A3 | c.2223G>A (p.Gly741=) c.2220G>A (p.Gly740=) | |
16 | g.56887969G>C | CA495607688 | SLC12A3 | c.2223G>C (p.Gly741=) c.2220G>C (p.Gly740=) | |
16 | g.56887969G>T | CA495607690 | SLC12A3 | c.2223G>T (p.Gly741=) c.2220G>T (p.Gly740=) | |
16 | g.56887969_56887970del | CA2697555869 | SLC12A3 | c.2223_2224del (p.Phe742GlnfsTer21) c.2220_2221del (p.Phe741GlnfsTer21) | ClinVar |
16 | g.56887970T>A | CA395994712 | SLC12A3 | c.2224T>A (p.Phe742Ile) c.2221T>A (p.Phe741Ile) | dbSNP gnomAD v4 |
16 | g.56887970T>C | CA395994714 | SLC12A3 | c.2224T>C (p.Phe742Leu) c.2221T>C (p.Phe741Leu) | |
16 | g.56887970T>G | CA395994716 | SLC12A3 | c.2224T>G (p.Phe742Val) c.2221T>G (p.Phe741Val) | |
16 | g.56887970T= | CA2224358082 | SLC12A3 | c.2224T= (p.Phe742=) c.2221T= (p.Phe741=) | |
16 | g.56887971T>A | CA395994722 | SLC12A3 | c.2225T>A (p.Phe742Tyr) c.2222T>A (p.Phe741Tyr) | |
16 | g.56887971T>C | CA395994720 | SLC12A3 | c.2225T>C (p.Phe742Ser) c.2222T>C (p.Phe741Ser) | |
16 | g.56887971T>G | CA395994719 | SLC12A3 | c.2225T>G (p.Phe742Cys) c.2222T>G (p.Phe741Cys) | ClinVar dbSNP |
16 | g.56887971T= | CA2224358083 | SLC12A3 | c.2225T= (p.Phe742=) c.2222T= (p.Phe741=) | |
16 | g.56887972C>A | CA395994724 | SLC12A3 | c.2226C>A (p.Phe742Leu) c.2223C>A (p.Phe741Leu) | |
16 | g.56887972C>G | CA395994726 | SLC12A3 | c.2226C>G (p.Phe742Leu) c.2223C>G (p.Phe741Leu) | gnomAD v4 |
16 | g.56887972C>T | CA495607725 | SLC12A3 | c.2226C>T (p.Phe742=) c.2223C>T (p.Phe741=) | gnomAD v4 |
16 | g.56887973A>C | CA395994728 | SLC12A3 | c.2227A>C (p.Lys743Gln) c.2224A>C (p.Lys742Gln) | |
16 | g.56887973A>G | CA395994729 | SLC12A3 | c.2227A>G (p.Lys743Glu) c.2224A>G (p.Lys742Glu) | gnomAD v4 |
16 | g.56887973A>T | CA395994731 | SLC12A3 | c.2227A>T (p.Lys743Ter) c.2224A>T (p.Lys742Ter) | |
16 | g.56887978_56887980del | CA2633375890 | SLC12A3 | c.2232_2234del (p.Lys744del) c.2229_2231del (p.Lys743del) | gnomAD v4 |
16 | g.56887974A= | CA2224358084 | SLC12A3 | c.2228A= (p.Lys743=) c.2225A= (p.Lys742=) | |
16 | g.56887974A>C | CA395994733 | SLC12A3 | c.2228A>C (p.Lys743Thr) c.2225A>C (p.Lys742Thr) | |
16 | g.56887974A>G | CA8069795 | SLC12A3 | c.2228A>G (p.Lys743Arg) c.2225A>G (p.Lys742Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887974A>T | CA395994736 | SLC12A3 | c.2228A>T (p.Lys743Met) c.2225A>T (p.Lys742Met) | |
16 | g.56887975G>A | CA495607742 | SLC12A3 | c.2229G>A (p.Lys743=) c.2226G>A (p.Lys742=) | |
16 | g.56887975G>C | CA395994738 | SLC12A3 | c.2229G>C (p.Lys743Asn) c.2226G>C (p.Lys742Asn) | |
16 | g.56887975G>T | CA395994742 | SLC12A3 | c.2229G>T (p.Lys743Asn) c.2226G>T (p.Lys742Asn) | |
16 | g.56887976A>C | CA395994745 | SLC12A3 | c.2230A>C (p.Lys744Gln) c.2227A>C (p.Lys743Gln) | |
16 | g.56887976A>G | CA395994747 | SLC12A3 | c.2230A>G (p.Lys744Glu) c.2227A>G (p.Lys743Glu) | |
16 | g.56887976A>T | CA395994748 | SLC12A3 | c.2230A>T (p.Lys744Ter) c.2227A>T (p.Lys743Ter) | |
16 | g.56887977A>C | CA395994751 | SLC12A3 | c.2231A>C (p.Lys744Thr) c.2228A>C (p.Lys743Thr) | |
16 | g.56887977A>G | CA395994753 | SLC12A3 | c.2231A>G (p.Lys744Arg) c.2228A>G (p.Lys743Arg) | |
16 | g.56887977A>T | CA395994750 | SLC12A3 | c.2231A>T (p.Lys744Met) c.2228A>T (p.Lys743Met) | |
16 | g.56887978G>A | CA495607767 | SLC12A3 | c.2232G>A (p.Lys744=) c.2229G>A (p.Lys743=) | gnomAD v4 |
16 | g.56887978G>C | CA395994755 | SLC12A3 | c.2232G>C (p.Lys744Asn) c.2229G>C (p.Lys743Asn) | |
16 | g.56887978G>T | CA395994754 | SLC12A3 | c.2232G>T (p.Lys744Asn) c.2229G>T (p.Lys743Asn) | |
16 | g.56887979A>C | CA395994758 | SLC12A3 | c.2233A>C (p.Asn745His) c.2230A>C (p.Asn744His) | |
16 | g.56887979A>G | CA395994757 | SLC12A3 | c.2233A>G (p.Asn745Asp) c.2230A>G (p.Asn744Asp) | |
16 | g.56887979A>T | CA395994760 | SLC12A3 | c.2233A>T (p.Asn745Tyr) c.2230A>T (p.Asn744Tyr) | |
16 | g.56887980A>C | CA395994763 | SLC12A3 | c.2234A>C (p.Asn745Thr) c.2231A>C (p.Asn744Thr) | |
16 | g.56887980A>G | CA395994767 | SLC12A3 | c.2234A>G (p.Asn745Ser) c.2231A>G (p.Asn744Ser) | |
16 | g.56887980A>T | CA395994765 | SLC12A3 | c.2234A>T (p.Asn745Ile) c.2231A>T (p.Asn744Ile) | |
16 | g.56887981C>A | CA395994769 | SLC12A3 | c.2235C>A (p.Asn745Lys) c.2232C>A (p.Asn744Lys) | |
16 | g.56887981C>G | CA395994771 | SLC12A3 | c.2235C>G (p.Asn745Lys) c.2232C>G (p.Asn744Lys) | |
16 | g.56887981C>T | CA495607785 | SLC12A3 | c.2235C>T (p.Asn745=) c.2232C>T (p.Asn744=) | ClinVar dbSNP |
16 | g.56887982T>A | CA395994772 | SLC12A3 | c.2236T>A (p.Trp746Arg) c.2233T>A (p.Trp745Arg) | |
16 | g.56887982T>C | CA395994773 | SLC12A3 | c.2236T>C (p.Trp746Arg) c.2233T>C (p.Trp745Arg) | |
16 | g.56887982T>G | CA395994775 | SLC12A3 | c.2236T>G (p.Trp746Gly) c.2233T>G (p.Trp745Gly) | |
16 | g.56887983G>A | CA281510092 | SLC12A3 | c.2237G>A (p.Trp746Ter) c.2234G>A (p.Trp745Ter) | dbSNP COSMIC |
16 | g.56887983G>C | CA395994778 | SLC12A3 | c.2237G>C (p.Trp746Ser) c.2234G>C (p.Trp745Ser) | |
16 | g.56887983G= | CA2224358085 | SLC12A3 | c.2237G= (p.Trp746=) c.2234G= (p.Trp745=) | |
16 | g.56887983G>T | CA395994780 | SLC12A3 | c.2237G>T (p.Trp746Leu) c.2234G>T (p.Trp745Leu) | |
16 | g.56887984G>A | CA395994783 | SLC12A3 | c.2238G>A (p.Trp746Ter) c.2235G>A (p.Trp745Ter) | ClinVar |
16 | g.56887984G>C | CA395994784 | SLC12A3 | c.2238G>C (p.Trp746Cys) c.2235G>C (p.Trp745Cys) | |
16 | g.56887984G= | CA2224358086 | SLC12A3 | c.2238G= (p.Trp746=) c.2235G= (p.Trp745=) | |
16 | g.56887984G>T | CA395994786 | SLC12A3 | c.2238G>T (p.Trp746Cys) c.2235G>T (p.Trp745Cys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56887985C>A | CA395994792 | SLC12A3 | c.2239C>A (p.Gln747Lys) c.2236C>A (p.Gln746Lys) | |
16 | g.56887985C= | CA2224358087 | SLC12A3 | c.2239C= (p.Gln747=) c.2236C= (p.Gln746=) | |
16 | g.56887985C>G | CA395994790 | SLC12A3 | c.2239C>G (p.Gln747Glu) c.2236C>G (p.Gln746Glu) | |
16 | g.56887985C>T | CA395994789 | SLC12A3 | c.2239C>T (p.Gln747Ter) c.2236C>T (p.Gln746Ter) | ClinVar dbSNP |
16 | g.56887986A= | CA2224358088 | SLC12A3 | c.2240A= (p.Gln747=) c.2237A= (p.Gln746=) | |
16 | g.56887986A>C | CA395994795 | SLC12A3 | c.2240A>C (p.Gln747Pro) c.2237A>C (p.Gln746Pro) | |
16 | g.56887986A>G | CA395994797 | SLC12A3 | c.2240A>G (p.Gln747Arg) c.2237A>G (p.Gln746Arg) | dbSNP |
16 | g.56887986A>T | CA8069796 | SLC12A3 | c.2240A>T (p.Gln747Leu) c.2237A>T (p.Gln746Leu) | dbSNP ExAC gnomAD v2 |
16 | g.56887987G>A | CA495607816 | SLC12A3 | c.2241G>A (p.Gln747=) c.2238G>A (p.Gln746=) | COSMIC |
16 | g.56887987G>C | CA395994800 | SLC12A3 | c.2241G>C (p.Gln747His) c.2238G>C (p.Gln746His) | |
16 | g.56887987G= | CA2224358089 | SLC12A3 | c.2241G= (p.Gln747=) c.2238G= (p.Gln746=) | |
16 | g.56887987G>T | CA395994801 | SLC12A3 | c.2241G>T (p.Gln747His) c.2238G>T (p.Gln746His) | dbSNP |
16 | g.56887988T>A | CA395994803 | SLC12A3 | c.2242T>A (p.Ser748Thr) c.2239T>A (p.Ser747Thr) | |
16 | g.56887988T>C | CA395994805 | SLC12A3 | c.2242T>C (p.Ser748Pro) c.2239T>C (p.Ser747Pro) | |
16 | g.56887988T>G | CA395994806 | SLC12A3 | c.2242T>G (p.Ser748Ala) c.2239T>G (p.Ser747Ala) | |
16 | g.56887989C>A | CA395994808 | SLC12A3 | c.2243C>A (p.Ser748Ter) c.2240C>A (p.Ser747Ter) | |
16 | g.56887989C= | CA2224358090 | SLC12A3 | c.2243C= (p.Ser748=) c.2240C= (p.Ser747=) | |
16 | g.56887989C>G | CA395994810 | SLC12A3 | c.2243C>G (p.Ser748Trp) c.2240C>G (p.Ser747Trp) | |
16 | g.56887989C>T | CA8069797 | SLC12A3 | c.2243C>T (p.Ser748Leu) c.2240C>T (p.Ser747Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887990G>A | CA8069798 | SLC12A3 | c.2244G>A (p.Ser748=) c.2241G>A (p.Ser747=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887990G>C | CA495607829 | SLC12A3 | c.2244G>C (p.Ser748=) c.2241G>C (p.Ser747=) | |
16 | g.56887990G= | CA2224358091 | SLC12A3 | c.2244G= (p.Ser748=) c.2241G= (p.Ser747=) | |
16 | g.56887990G>T | CA495607831 | SLC12A3 | c.2244G>T (p.Ser748=) c.2241G>T (p.Ser747=) | ClinVar dbSNP |
16 | g.56887991G>A | CA395994818 | SLC12A3 | c.2245G>A (p.Ala749Thr) c.2242G>A (p.Ala748Thr) | COSMIC |
16 | g.56887991G>C | CA395994816 | SLC12A3 | c.2245G>C (p.Ala749Pro) c.2242G>C (p.Ala748Pro) | |
16 | g.56887991G>T | CA395994814 | SLC12A3 | c.2245G>T (p.Ala749Ser) c.2242G>T (p.Ala748Ser) | gnomAD v4 |
16 | g.56887992C>A | CA395994824 | SLC12A3 | c.2246C>A (p.Ala749Asp) c.2243C>A (p.Ala748Asp) | |
16 | g.56887992C>G | CA395994820 | SLC12A3 | c.2246C>G (p.Ala749Gly) c.2243C>G (p.Ala748Gly) | |
16 | g.56887992C>T | CA395994822 | SLC12A3 | c.2246C>T (p.Ala749Val) c.2243C>T (p.Ala748Val) | |
16 | g.56887993T>A | CA495607842 | SLC12A3 | c.2247T>A (p.Ala749=) c.2244T>A (p.Ala748=) | |
16 | g.56887993T>C | CA495607843 | SLC12A3 | c.2247T>C (p.Ala749=) c.2244T>C (p.Ala748=) | |
16 | g.56887993T>G | CA495607845 | SLC12A3 | c.2247T>G (p.Ala749=) c.2244T>G (p.Ala748=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56887993T= | CA2224358092 | SLC12A3 | c.2247T= (p.Ala749=) c.2244T= (p.Ala748=) | |
16 | g.56887994C>A | CA395994826 | SLC12A3 | c.2248C>A (p.His750Asn) c.2245C>A (p.His749Asn) | dbSNP |
16 | g.56887994C= | CA2224358093 | SLC12A3 | c.2248C= (p.His750=) c.2245C= (p.His749=) | |
16 | g.56887994C>G | CA395994828 | SLC12A3 | c.2248C>G (p.His750Asp) c.2245C>G (p.His749Asp) | |
16 | g.56887994C>T | CA8069799 | SLC12A3 | c.2248C>T (p.His750Tyr) c.2245C>T (p.His749Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56887995A>C | CA395994831 | SLC12A3 | c.2249A>C (p.His750Pro) c.2246A>C (p.His749Pro) | |
16 | g.56887995A>G | CA395994833 | SLC12A3 | c.2249A>G (p.His750Arg) c.2246A>G (p.His749Arg) | |
16 | g.56887995A>T | CA395994835 | SLC12A3 | c.2249A>T (p.His750Leu) c.2246A>T (p.His749Leu) | |
16 | g.56887996C>A | CA395994837 | SLC12A3 | c.2250C>A (p.His750Gln) c.2247C>A (p.His749Gln) | |
16 | g.56887996C= | CA2224358094 | SLC12A3 | c.2250C= (p.His750=) c.2247C= (p.His749=) | |
16 | g.56887996C>G | CA395994839 | SLC12A3 | c.2250C>G (p.His750Gln) c.2247C>G (p.His749Gln) | |
16 | g.56887996C>T | CA495607854 | SLC12A3 | c.2250C>T (p.His750=) c.2247C>T (p.His749=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56887997C>A | CA395994841 | SLC12A3 | c.2251C>A (p.Pro751Thr) c.2248C>A (p.Pro750Thr) | |
16 | g.56887997C>G | CA395994843 | SLC12A3 | c.2251C>G (p.Pro751Ala) c.2248C>G (p.Pro750Ala) | |
16 | g.56887997C>T | CA395994844 | SLC12A3 | c.2251C>T (p.Pro751Ser) c.2248C>T (p.Pro750Ser) | |
16 | g.56887998C>A | CA395994848 | SLC12A3 | c.2252C>A (p.Pro751Gln) c.2249C>A (p.Pro750Gln) | |
16 | g.56887998C= | CA2224358095 | SLC12A3 | c.2252C= (p.Pro751=) c.2249C= (p.Pro750=) | |
16 | g.56887998C>G | CA395994846 | SLC12A3 | c.2252C>G (p.Pro751Arg) c.2249C>G (p.Pro750Arg) | |
16 | g.56887998C>T | CA8069800 | SLC12A3 | c.2252C>T (p.Pro751Leu) c.2249C>T (p.Pro750Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887999G>A | CA8069801 | SLC12A3 | c.2253G>A (p.Pro751=) c.2250G>A (p.Pro750=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887999G>C | CA281510107 | SLC12A3 | c.2253G>C (p.Pro751=) c.2250G>C (p.Pro750=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56887999G= | CA2224358096 | SLC12A3 | c.2253G= (p.Pro751=) c.2250G= (p.Pro750=) | |
16 | g.56887999G>T | CA495607871 | SLC12A3 | c.2253G>T (p.Pro751=) c.2250G>T (p.Pro750=) | |
16 | g.56888000G>A | CA395994851 | SLC12A3 | c.2254G>A (p.Ala752Thr) c.2251G>A (p.Ala751Thr) | |
16 | g.56888000G>C | CA395994853 | SLC12A3 | c.2254G>C (p.Ala752Pro) c.2251G>C (p.Ala751Pro) | |
16 | g.56888000G>T | CA395994855 | SLC12A3 | c.2254G>T (p.Ala752Ser) c.2251G>T (p.Ala751Ser) | |
16 | g.56888001C>A | CA395994857 | SLC12A3 | c.2255C>A (p.Ala752Asp) c.2252C>A (p.Ala751Asp) | |
16 | g.56888001C>G | CA395994859 | SLC12A3 | c.2255C>G (p.Ala752Gly) c.2252C>G (p.Ala751Gly) | |
16 | g.56888001C>T | CA395994861 | SLC12A3 | c.2255C>T (p.Ala752Val) c.2252C>T (p.Ala751Val) | |
16 | g.56888002C>A | CA495607883 | SLC12A3 | c.2256C>A (p.Ala752=) c.2253C>A (p.Ala751=) | |
16 | g.56888002C>G | CA495607886 | SLC12A3 | c.2256C>G (p.Ala752=) c.2253C>G (p.Ala751=) | |
16 | g.56888002C>T | CA495607889 | SLC12A3 | c.2256C>T (p.Ala752=) c.2253C>T (p.Ala751=) | |
16 | g.56888003A>C | CA395994863 | SLC12A3 | c.2257A>C (p.Thr753Pro) c.2254A>C (p.Thr752Pro) | |
16 | g.56888003A>G | CA395994865 | SLC12A3 | c.2257A>G (p.Thr753Ala) c.2254A>G (p.Thr752Ala) | |
16 | g.56888003A>T | CA395994867 | SLC12A3 | c.2257A>T (p.Thr753Ser) c.2254A>T (p.Thr752Ser) | |
16 | g.56888004C>A | CA395994869 | SLC12A3 | c.2258C>A (p.Thr753Lys) c.2255C>A (p.Thr752Lys) | gnomAD v4 |
16 | g.56888004C>G | CA395994871 | SLC12A3 | c.2258C>G (p.Thr753Arg) c.2255C>G (p.Thr752Arg) | |
16 | g.56888004C>T | CA395994873 | SLC12A3 | c.2258C>T (p.Thr753Ile) c.2255C>T (p.Thr752Ile) | |
16 | g.56888005A= | CA2224358097 | SLC12A3 | c.2259A= (p.Thr753=) c.2256A= (p.Thr752=) | |
16 | g.56888005A>C | CA495607907 | SLC12A3 | c.2259A>C (p.Thr753=) c.2256A>C (p.Thr752=) | ClinVar dbSNP |
16 | g.56888005A>G | CA281510112 | SLC12A3 | c.2259A>G (p.Thr753=) c.2256A>G (p.Thr752=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56888005A>T | CA495607911 | SLC12A3 | c.2259A>T (p.Thr753=) c.2256A>T (p.Thr752=) | |
16 | g.56888006G>A | CA395994875 | SLC12A3 | c.2260G>A (p.Val754Met) c.2257G>A (p.Val753Met) | |
16 | g.56888006G>C | CA395994876 | SLC12A3 | c.2260G>C (p.Val754Leu) c.2257G>C (p.Val753Leu) | |
16 | g.56888006G>T | CA395994874 | SLC12A3 | c.2260G>T (p.Val754Leu) c.2257G>T (p.Val753Leu) | COSMIC |
16 | g.56888007T>A | CA395994877 | SLC12A3 | c.2261T>A (p.Val754Glu) c.2258T>A (p.Val753Glu) | |
16 | g.56888007T>C | CA395994879 | SLC12A3 | c.2261T>C (p.Val754Ala) c.2258T>C (p.Val753Ala) | gnomAD v4 |
16 | g.56888007T>G | CA395994878 | SLC12A3 | c.2261T>G (p.Val754Gly) c.2258T>G (p.Val753Gly) | |
16 | g.56888008G>A | CA8069802 | SLC12A3 | c.2262G>A (p.Val754=) c.2259G>A (p.Val753=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56888008G>C | CA495607923 | SLC12A3 | c.2262G>C (p.Val754=) c.2259G>C (p.Val753=) | |
16 | g.56888008G= | CA2224358098 | SLC12A3 | c.2262G= (p.Val754=) c.2259G= (p.Val753=) | |
16 | g.56888008G>T | CA495607926 | SLC12A3 | c.2262G>T (p.Val754=) c.2259G>T (p.Val753=) | |
16 | g.56888009G>A | CA395994880 | SLC12A3 | c.2263G>A (p.Glu755Lys) c.2260G>A (p.Glu754Lys) | gnomAD v4 COSMIC |
16 | g.56888009G>C | CA395994881 | SLC12A3 | c.2263G>C (p.Glu755Gln) c.2260G>C (p.Glu754Gln) | |
16 | g.56888009G>T | CA395994882 | SLC12A3 | c.2263G>T (p.Glu755Ter) c.2260G>T (p.Glu754Ter) | |
16 | g.56888010A>C | CA395994883 | SLC12A3 | c.2264A>C (p.Glu755Ala) c.2261A>C (p.Glu754Ala) | |
16 | g.56888010A>G | CA395994884 | SLC12A3 | c.2264A>G (p.Glu755Gly) c.2261A>G (p.Glu754Gly) | |
16 | g.56888010A>T | CA395994885 | SLC12A3 | c.2264A>T (p.Glu755Val) c.2261A>T (p.Glu754Val) | |
16 | g.56888011A= | CA2224358099 | SLC12A3 | c.2265A= (p.Glu755=) c.2262A= (p.Glu754=) | |
16 | g.56888011A>C | CA395994886 | SLC12A3 | c.2265A>C (p.Glu755Asp) c.2262A>C (p.Glu754Asp) | |
16 | g.56888011A>G | CA281510119 | SLC12A3 | c.2265A>G (p.Glu755=) c.2262A>G (p.Glu754=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56888011A>T | CA395994887 | SLC12A3 | c.2265A>T (p.Glu755Asp) c.2262A>T (p.Glu754Asp) | |
16 | g.56888012G>A | CA395994888 | SLC12A3 | c.2266G>A (p.Asp756Asn) c.2263G>A (p.Asp755Asn) | |
16 | g.56888012G>C | CA395994889 | SLC12A3 | c.2266G>C (p.Asp756His) c.2263G>C (p.Asp755His) | |
16 | g.56888012G>T | CA395994890 | SLC12A3 | c.2266G>T (p.Asp756Tyr) c.2263G>T (p.Asp755Tyr) | |
16 | g.56888013A>C | CA395994893 | SLC12A3 | c.2267A>C (p.Asp756Ala) c.2264A>C (p.Asp755Ala) | |
16 | g.56888013A>G | CA395994891 | SLC12A3 | c.2267A>G (p.Asp756Gly) c.2264A>G (p.Asp755Gly) | |
16 | g.56888013A>T | CA395994892 | SLC12A3 | c.2267A>T (p.Asp756Val) c.2264A>T (p.Asp755Val) | |
16 | g.56888014C>A | CA395994894 | SLC12A3 | c.2268C>A (p.Asp756Glu) c.2265C>A (p.Asp755Glu) | |
16 | g.56888014C>G | CA395994895 | SLC12A3 | c.2268C>G (p.Asp756Glu) c.2265C>G (p.Asp755Glu) | |
16 | g.56888014C>T | CA495607965 | SLC12A3 | c.2268C>T (p.Asp756=) c.2265C>T (p.Asp755=) | |
16 | g.56888015del | CA2573152373 | SLC12A3 | c.2269del (p.Tyr757ThrfsTer18) c.2266del (p.Tyr756ThrfsTer18) | ClinVar dbSNP |
16 | g.56888015T>A | CA395994896 | SLC12A3 | c.2269T>A (p.Tyr757Asn) c.2266T>A (p.Tyr756Asn) | |
16 | g.56888015T>C | CA395994897 | SLC12A3 | c.2269T>C (p.Tyr757His) c.2266T>C (p.Tyr756His) | |
16 | g.56888015T>G | CA395994898 | SLC12A3 | c.2269T>G (p.Tyr757Asp) c.2266T>G (p.Tyr756Asp) | |
16 | g.56888016A>C | CA395994899 | SLC12A3 | c.2270A>C (p.Tyr757Ser) c.2267A>C (p.Tyr756Ser) | |
16 | g.56888016A>G | CA395994900 | SLC12A3 | c.2270A>G (p.Tyr757Cys) c.2267A>G (p.Tyr756Cys) | |
16 | g.56888016A>T | CA395994901 | SLC12A3 | c.2270A>T (p.Tyr757Phe) c.2267A>T (p.Tyr756Phe) | |
16 | g.56888017C>A | CA395994902 | SLC12A3 | c.2271C>A (p.Tyr757Ter) c.2268C>A (p.Tyr756Ter) | |
16 | g.56888017C= | CA2224358100 | SLC12A3 | c.2271C= (p.Tyr757=) c.2268C= (p.Tyr756=) | |
16 | g.56888017C>G | CA395994903 | SLC12A3 | c.2271C>G (p.Tyr757Ter) c.2268C>G (p.Tyr756Ter) | |
16 | g.56888017C>T | CA495607993 | SLC12A3 | c.2271C>T (p.Tyr757=) c.2268C>T (p.Tyr756=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56888018A= | CA2224358101 | SLC12A3 | c.2272A= (p.Ile758=) c.2269A= (p.Ile757=) | |
16 | g.56888018A>C | CA10643907 | SLC12A3 | c.2272A>C (p.Ile758Leu) c.2269A>C (p.Ile757Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.56888018A>G | CA395994905 | SLC12A3 | c.2272A>G (p.Ile758Val) c.2269A>G (p.Ile757Val) | dbSNP gnomAD v4 |
16 | g.56888018A>T | CA395994904 | SLC12A3 | c.2272A>T (p.Ile758Phe) c.2269A>T (p.Ile757Phe) | |
16 | g.56888019T>A | CA395994906 | SLC12A3 | c.2273T>A (p.Ile758Asn) c.2270T>A (p.Ile757Asn) | |
16 | g.56888019T>C | CA8069804 | SLC12A3 | c.2273T>C (p.Ile758Thr) c.2270T>C (p.Ile757Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888019T>G | CA8069803 | SLC12A3 | c.2273T>G (p.Ile758Ser) c.2270T>G (p.Ile757Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888019T= | CA2224358102 | SLC12A3 | c.2273T= (p.Ile758=) c.2270T= (p.Ile757=) | |
16 | g.56888020T>A | CA495608009 | SLC12A3 | c.2274T>A (p.Ile758=) c.2271T>A (p.Ile757=) | |
16 | g.56888020T>C | CA495608012 | SLC12A3 | c.2274T>C (p.Ile758=) c.2271T>C (p.Ile757=) | |
16 | g.56888020T>G | CA395994907 | SLC12A3 | c.2274T>G (p.Ile758Met) c.2271T>G (p.Ile757Met) | |
16 | g.56888020_56888021delinsTG | CA2224358103 | SLC12A3 | c.2274_2275delinsTG (p.Ile758=) c.2271_2272delinsTG (p.Ile757=) | |
16 | g.56888021G>A | CA395994908 | SLC12A3 | c.2275G>A (p.Gly759Ser) c.2272G>A (p.Gly758Ser) | |
16 | g.56888021G>C | CA395994909 | SLC12A3 | c.2275G>C (p.Gly759Arg) c.2272G>C (p.Gly758Arg) | |
16 | g.56888021G>T | CA395994910 | SLC12A3 | c.2275G>T (p.Gly759Cys) c.2272G>T (p.Gly758Cys) | |
16 | g.56888022del | CA622339033 | SLC12A3 | c.2276del (p.Gly759AlafsTer16) c.2273del (p.Gly758AlafsTer16) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56888022G>A | CA395994911 | SLC12A3 | c.2276G>A (p.Gly759Asp) c.2273G>A (p.Gly758Asp) | dbSNP gnomAD v4 |
16 | g.56888022G>C | CA281510133 | SLC12A3 | c.2276G>C (p.Gly759Ala) c.2273G>C (p.Gly758Ala) | dbSNP gnomAD v4 |
16 | g.56888022G= | CA2224358104 | SLC12A3 | c.2276G= (p.Gly759=) c.2273G= (p.Gly758=) | |
16 | g.56888022G>T | CA395994912 | SLC12A3 | c.2276G>T (p.Gly759Val) c.2273G>T (p.Gly758Val) | |
16 | g.56888023C>A | CA495608037 | SLC12A3 | c.2277C>A (p.Gly759=) c.2274C>A (p.Gly758=) | |
16 | g.56888023C>G | CA495608040 | SLC12A3 | c.2277C>G (p.Gly759=) c.2274C>G (p.Gly758=) | |
16 | g.56888023C>T | CA495608041 | SLC12A3 | c.2277C>T (p.Gly759=) c.2274C>T (p.Gly758=) | |
16 | g.56888024A>C | CA395994913 | SLC12A3 | c.2278A>C (p.Ile760Leu) c.2275A>C (p.Ile759Leu) | |
16 | g.56888024A>G | CA395994914 | SLC12A3 | c.2278A>G (p.Ile760Val) c.2275A>G (p.Ile759Val) | |
16 | g.56888024A>T | CA395994915 | SLC12A3 | c.2278A>T (p.Ile760Phe) c.2275A>T (p.Ile759Phe) | |
16 | g.56888025T>A | CA395994918 | SLC12A3 | c.2279T>A (p.Ile760Asn) c.2276T>A (p.Ile759Asn) | |
16 | g.56888025T>C | CA395994916 | SLC12A3 | c.2279T>C (p.Ile760Thr) c.2276T>C (p.Ile759Thr) | |
16 | g.56888025T>G | CA395994917 | SLC12A3 | c.2279T>G (p.Ile760Ser) c.2276T>G (p.Ile759Ser) | |
16 | g.56888026C>A | CA495608054 | SLC12A3 | c.2280C>A (p.Ile760=) c.2277C>A (p.Ile759=) | |
16 | g.56888026C= | CA2224358105 | SLC12A3 | c.2280C= (p.Ile760=) c.2277C= (p.Ile759=) | |
16 | g.56888026C>G | CA395994919 | SLC12A3 | c.2280C>G (p.Ile760Met) c.2277C>G (p.Ile759Met) | |
16 | g.56888026C>T | CA495608055 | SLC12A3 | c.2280C>T (p.Ile760=) c.2277C>T (p.Ile759=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56888027C>A | CA395994920 | SLC12A3 | c.2281C>A (p.Leu761Ile) c.2278C>A (p.Leu760Ile) | gnomAD v4 |
16 | g.56888027C>G | CA395994921 | SLC12A3 | c.2281C>G (p.Leu761Val) c.2278C>G (p.Leu760Val) | |
16 | g.56888027C>T | CA395994922 | SLC12A3 | c.2281C>T (p.Leu761Phe) c.2278C>T (p.Leu760Phe) | gnomAD v4 |
16 | g.56888028T>A | CA395994923 | SLC12A3 | c.2282T>A (p.Leu761His) c.2279T>A (p.Leu760His) | gnomAD v4 |
16 | g.56888028T>C | CA395994924 | SLC12A3 | c.2282T>C (p.Leu761Pro) c.2279T>C (p.Leu760Pro) | gnomAD v4 |
16 | g.56888028T>G | CA395994925 | SLC12A3 | c.2282T>G (p.Leu761Arg) c.2279T>G (p.Leu760Arg) | |
16 | g.56888029C>A | CA495608069 | SLC12A3 | c.2283C>A (p.Leu761=) c.2280C>A (p.Leu760=) | |
16 | g.56888029C= | CA2224358106 | SLC12A3 | c.2283C= (p.Leu761=) c.2280C= (p.Leu760=) | |
16 | g.56888029C>G | CA495608072 | SLC12A3 | c.2283C>G (p.Leu761=) c.2280C>G (p.Leu760=) | |
16 | g.56888029C>T | CA8069805 | SLC12A3 | c.2283C>T (p.Leu761=) c.2280C>T (p.Leu760=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888030C>A | CA395994926 | SLC12A3 | c.2284C>A (p.His762Asn) c.2281C>A (p.His761Asn) | gnomAD v4 |
16 | g.56888030C>G | CA395994927 | SLC12A3 | c.2284C>G (p.His762Asp) c.2281C>G (p.His761Asp) | |
16 | g.56888030C>T | CA395994928 | SLC12A3 | c.2284C>T (p.His762Tyr) c.2281C>T (p.His761Tyr) | |
16 | g.56888031A>C | CA395994931 | SLC12A3 | c.2285A>C (p.His762Pro) c.2282A>C (p.His761Pro) | gnomAD v4 |
16 | g.56888031A>G | CA395994930 | SLC12A3 | c.2285A>G (p.His762Arg) c.2282A>G (p.His761Arg) | |
16 | g.56888031A>T | CA395994929 | SLC12A3 | c.2285A>T (p.His762Leu) c.2282A>T (p.His761Leu) | |
16 | g.56888031_56888032delinsAG | CA2224358107 | SLC12A3 | c.2285_2285+1delinsAG c.2282_2282+1delinsAG | |
16 | g.56888031_56888032insT | CA2633375948 | SLC12A3 | c.2285_2285+1insT (n.2285_2285+1insT) c.2282_2282+1insT (n.2282_2282+1insT) | gnomAD v4 |
16 | g.56888032del | CA2224358108 | SLC12A3 | c.2285+1del (n.2285+1del) c.2282+1del (n.2282+1del) | ClinVar dbSNP |
16 | g.56888032G>A | CA395994932 | SLC12A3 | c.2285+1G>A (n.2285+1G>A) c.2282+1G>A (n.2282+1G>A) | |
16 | g.56888032G>C | CA395994934 | SLC12A3 | c.2285+1G>C (n.2285+1G>C) c.2282+1G>C (n.2282+1G>C) | |
16 | g.56888032G>T | CA395994933 | SLC12A3 | c.2285+1G>T (n.2285+1G>T) c.2282+1G>T (n.2282+1G>T) |