| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56884121_56884122delinsTG | CA2224356193 | SLC12A3 | c.1742_1743delinsTG (p.Met581=) c.1739_1740delinsTG (p.Met580=) | |
| 16 | g.56884122del | CA8069594 | SLC12A3 | c.1743del (p.Met581IlefsTer30) c.1740del (p.Met580IlefsTer30) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884122G>A | CA395990632 | SLC12A3 | c.1743G>A (p.Met581Ile) c.1740G>A (p.Met580Ile) | gnomAD v4 |
| 16 | g.56884122G>C | CA395990634 | SLC12A3 | c.1743G>C (p.Met581Ile) c.1740G>C (p.Met580Ile) | |
| 16 | g.56884122G>T | CA395990635 | SLC12A3 | c.1743G>T (p.Met581Ile) c.1740G>T (p.Met580Ile) | |
| 16 | g.56884123T>A | CA395990639 | SLC12A3 | c.1744T>A (p.Phe582Ile) c.1741T>A (p.Phe581Ile) | |
| 16 | g.56884123T>C | CA395990641 | SLC12A3 | c.1744T>C (p.Phe582Leu) c.1741T>C (p.Phe581Leu) | |
| 16 | g.56884123T>G | CA395990643 | SLC12A3 | c.1744T>G (p.Phe582Val) c.1741T>G (p.Phe581Val) | |
| 16 | g.56884124T>A | CA395990644 | SLC12A3 | c.1745T>A (p.Phe582Tyr) c.1742T>A (p.Phe581Tyr) | |
| 16 | g.56884124T>C | CA395990645 | SLC12A3 | c.1745T>C (p.Phe582Ser) c.1742T>C (p.Phe581Ser) | |
| 16 | g.56884124T>G | CA395990646 | SLC12A3 | c.1745T>G (p.Phe582Cys) c.1742T>G (p.Phe581Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884124T= | CA2224356194 | SLC12A3 | c.1745T= (p.Phe582=) c.1742T= (p.Phe581=) | |
| 16 | g.56884125C>A | CA395990648 | SLC12A3 | c.1746C>A (p.Phe582Leu) c.1743C>A (p.Phe581Leu) | |
| 16 | g.56884125C>G | CA395990649 | SLC12A3 | c.1746C>G (p.Phe582Leu) c.1743C>G (p.Phe581Leu) | |
| 16 | g.56884125C>T | CA495604547 | SLC12A3 | c.1746C>T (p.Phe582=) c.1743C>T (p.Phe581=) | |
| 16 | g.56884126C>A | CA395990652 | SLC12A3 | c.1747C>A (p.Leu583Ile) c.1744C>A (p.Leu582Ile) | |
| 16 | g.56884126C>G | CA395990651 | SLC12A3 | c.1747C>G (p.Leu583Val) c.1744C>G (p.Leu582Val) | |
| 16 | g.56884126C>T | CA395990650 | SLC12A3 | c.1747C>T (p.Leu583Phe) c.1744C>T (p.Leu582Phe) | |
| 16 | g.56884127T>A | CA395990653 | SLC12A3 | c.1748T>A (p.Leu583His) c.1745T>A (p.Leu582His) | |
| 16 | g.56884127T>C | CA395990654 | SLC12A3 | c.1748T>C (p.Leu583Pro) c.1745T>C (p.Leu582Pro) | gnomAD v4 |
| 16 | g.56884127T>G | CA395990655 | SLC12A3 | c.1748T>G (p.Leu583Arg) c.1745T>G (p.Leu582Arg) | |
| 16 | g.56884128C>A | CA495604548 | SLC12A3 | c.1749C>A (p.Leu583=) c.1746C>A (p.Leu582=) | |
| 16 | g.56884128C>G | CA495604549 | SLC12A3 | c.1749C>G (p.Leu583=) c.1746C>G (p.Leu582=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56884128C>T | CA495604550 | SLC12A3 | c.1749C>T (p.Leu583=) c.1746C>T (p.Leu582=) | ClinVar gnomAD v4 |
| 16 | g.56884129C>A | CA395990657 | SLC12A3 | c.1750C>A (p.Leu584Ile) c.1747C>A (p.Leu583Ile) | |
| 16 | g.56884129C>G | CA395990658 | SLC12A3 | c.1750C>G (p.Leu584Val) c.1747C>G (p.Leu583Val) | |
| 16 | g.56884129C>T | CA395990660 | SLC12A3 | c.1750C>T (p.Leu584Phe) c.1747C>T (p.Leu583Phe) | |
| 16 | g.56884130T>A | CA395990663 | SLC12A3 | c.1751T>A (p.Leu584His) c.1748T>A (p.Leu583His) | |
| 16 | g.56884130T>C | CA395990665 | SLC12A3 | c.1751T>C (p.Leu584Pro) c.1748T>C (p.Leu583Pro) | |
| 16 | g.56884130T>G | CA395990666 | SLC12A3 | c.1751T>G (p.Leu584Arg) c.1748T>G (p.Leu583Arg) | |
| 16 | g.56884131C>A | CA495604551 | SLC12A3 | c.1752C>A (p.Leu584=) c.1749C>A (p.Leu583=) | |
| 16 | g.56884131C= | CA2224356195 | SLC12A3 | c.1752C= (p.Leu584=) c.1749C= (p.Leu583=) | |
| 16 | g.56884131C>G | CA495604552 | SLC12A3 | c.1752C>G (p.Leu584=) c.1749C>G (p.Leu583=) | |
| 16 | g.56884131C>T | CA495604553 | SLC12A3 | c.1752C>T (p.Leu584=) c.1749C>T (p.Leu583=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884132A>C | CA395990668 | SLC12A3 | c.1753A>C (p.Thr585Pro) c.1750A>C (p.Thr584Pro) | |
| 16 | g.56884132A>G | CA395990671 | SLC12A3 | c.1753A>G (p.Thr585Ala) c.1750A>G (p.Thr584Ala) | |
| 16 | g.56884132A>T | CA395990673 | SLC12A3 | c.1753A>T (p.Thr585Ser) c.1750A>T (p.Thr584Ser) | |
| 16 | g.56884133C>A | CA395990676 | SLC12A3 | c.1754C>A (p.Thr585Asn) c.1751C>A (p.Thr584Asn) | |
| 16 | g.56884133C>G | CA395990680 | SLC12A3 | c.1754C>G (p.Thr585Ser) c.1751C>G (p.Thr584Ser) | |
| 16 | g.56884133C>T | CA395990678 | SLC12A3 | c.1754C>T (p.Thr585Ile) c.1751C>T (p.Thr584Ile) | |
| 16 | g.56884135_56884155dup | CA2499223596 | SLC12A3 | c.1756_1776dup (p.Ala592_Ile593insTrpTrpAlaAlaLeuIleAla) c.1753_1773dup (p.Ala591_Ile592insTrpTrpAlaAlaLeuIleAla) | ClinVar dbSNP |
| 16 | g.56884134C>A | CA495604554 | SLC12A3 | c.1755C>A (p.Thr585=) c.1752C>A (p.Thr584=) | ClinVar dbSNP |
| 16 | g.56884134C= | CA2224356196 | SLC12A3 | c.1755C= (p.Thr585=) c.1752C= (p.Thr584=) | |
| 16 | g.56884134C>G | CA495604555 | SLC12A3 | c.1755C>G (p.Thr585=) c.1752C>G (p.Thr584=) | ClinVar |
| 16 | g.56884134C>T | CA495604556 | SLC12A3 | c.1755C>T (p.Thr585=) c.1752C>T (p.Thr584=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884135T>A | CA395990683 | SLC12A3 | c.1756T>A (p.Trp586Arg) c.1753T>A (p.Trp585Arg) | |
| 16 | g.56884135T>C | CA395990686 | SLC12A3 | c.1756T>C (p.Trp586Arg) c.1753T>C (p.Trp585Arg) | gnomAD v4 |
| 16 | g.56884135T>G | CA8069595 | SLC12A3 | c.1756T>G (p.Trp586Gly) c.1753T>G (p.Trp585Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884135T= | CA2224356197 | SLC12A3 | c.1756T= (p.Trp586=) c.1753T= (p.Trp585=) | |
| 16 | g.56884136G>A | CA395990689 | SLC12A3 | c.1757G>A (p.Trp586Ter) c.1754G>A (p.Trp585Ter) |