| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |