UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 16 | g.56884136G>C | CA395990691 | SLC12A3 | c.1757G>C (p.Trp586Ser) c.1754G>C (p.Trp585Ser) | |
| 16 | g.56884136G>T | CA395990693 | SLC12A3 | c.1757G>T (p.Trp586Leu) c.1754G>T (p.Trp585Leu) | |
| 16 | g.56884137G>A | CA8069596 | SLC12A3 | c.1758G>A (p.Trp586Ter) c.1755G>A (p.Trp585Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884137G>C | CA395990698 | SLC12A3 | c.1758G>C (p.Trp586Cys) c.1755G>C (p.Trp585Cys) | gnomAD v4 |
| 16 | g.56884137G= | CA2224356198 | SLC12A3 | c.1758G= (p.Trp586=) c.1755G= (p.Trp585=) | |
| 16 | g.56884137G>T | CA395990700 | SLC12A3 | c.1758G>T (p.Trp586Cys) c.1755G>T (p.Trp585Cys) | |
| 16 | g.56884138T>A | CA395990702 | SLC12A3 | c.1759T>A (p.Trp587Arg) c.1756T>A (p.Trp586Arg) | |
| 16 | g.56884138T>C | CA395990704 | SLC12A3 | c.1759T>C (p.Trp587Arg) c.1756T>C (p.Trp586Arg) | dbSNP |
| 16 | g.56884138T>G | CA395990707 | SLC12A3 | c.1759T>G (p.Trp587Gly) c.1756T>G (p.Trp586Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884138T= | CA2224356199 | SLC12A3 | c.1759T= (p.Trp587=) c.1756T= (p.Trp586=) | |
| 16 | g.56884139G>A | CA395990709 | SLC12A3 | c.1760G>A (p.Trp587Ter) c.1757G>A (p.Trp586Ter) | gnomAD v4 |
| 16 | g.56884139G>C | CA395990711 | SLC12A3 | c.1760G>C (p.Trp587Ser) c.1757G>C (p.Trp586Ser) | |
| 16 | g.56884139G>T | CA395990713 | SLC12A3 | c.1760G>T (p.Trp587Leu) c.1757G>T (p.Trp586Leu) | |
| 16 | g.56884141del | CA2695223450 | SLC12A3 | c.1762del (p.Ala588ArgfsTer23) c.1759del (p.Ala587ArgfsTer23) | |
| 16 | g.56884140G>A | CA395990718 | SLC12A3 | c.1761G>A (p.Trp587Ter) c.1758G>A (p.Trp586Ter) | COSMIC |
| 16 | g.56884140G>C | CA395990715 | SLC12A3 | c.1761G>C (p.Trp587Cys) c.1758G>C (p.Trp586Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884140G= | CA2224356200 | SLC12A3 | c.1761G= (p.Trp587=) c.1758G= (p.Trp586=) | |
| 16 | g.56884140G>T | CA395990717 | SLC12A3 | c.1761G>T (p.Trp587Cys) c.1758G>T (p.Trp586Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56884141G>A | CA395990720 | SLC12A3 | c.1762G>A (p.Ala588Thr) c.1759G>A (p.Ala587Thr) | gnomAD v4 |
| 16 | g.56884141G>C | CA395990722 | SLC12A3 | c.1762G>C (p.Ala588Pro) c.1759G>C (p.Ala587Pro) | |
| 16 | g.56884141G>T | CA395990724 | SLC12A3 | c.1762G>T (p.Ala588Ser) c.1759G>T (p.Ala587Ser) | |
| 16 | g.56884142C>A | CA8069597 | SLC12A3 | c.1763C>A (p.Ala588Glu) c.1760C>A (p.Ala587Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884142C= | CA2224356201 | SLC12A3 | c.1763C= (p.Ala588=) c.1760C= (p.Ala587=) | |
| 16 | g.56884142C>G | CA395990728 | SLC12A3 | c.1763C>G (p.Ala588Gly) c.1760C>G (p.Ala587Gly) | |
| 16 | g.56884142C>T | CA119774 | SLC12A3 | c.1763C>T (p.Ala588Val) c.1760C>T (p.Ala587Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56884143G>A | CA8069598 | SLC12A3 | c.1764G>A (p.Ala588=) c.1761G>A (p.Ala587=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884143G>C | CA495604558 | SLC12A3 | c.1764G>C (p.Ala588=) c.1761G>C (p.Ala587=) | |
| 16 | g.56884143G= | CA2224356202 | SLC12A3 | c.1764G= (p.Ala588=) c.1761G= (p.Ala587=) | |
| 16 | g.56884143G>T | CA495604557 | SLC12A3 | c.1764G>T (p.Ala588=) c.1761G>T (p.Ala587=) | |
| 16 | g.56884144G>A | CA395990735 | SLC12A3 | c.1765G>A (p.Ala589Thr) c.1762G>A (p.Ala588Thr) | |
| 16 | g.56884144G>C | CA395990737 | SLC12A3 | c.1765G>C (p.Ala589Pro) c.1762G>C (p.Ala588Pro) | gnomAD v4 |
| 16 | g.56884144G>T | CA395990740 | SLC12A3 | c.1765G>T (p.Ala589Ser) c.1762G>T (p.Ala588Ser) | |
| 16 | g.56884145C>A | CA395990749 | SLC12A3 | c.1766C>A (p.Ala589Asp) c.1763C>A (p.Ala588Asp) | |
| 16 | g.56884145C>G | CA395990746 | SLC12A3 | c.1766C>G (p.Ala589Gly) c.1763C>G (p.Ala588Gly) | |
| 16 | g.56884145C>T | CA395990743 | SLC12A3 | c.1766C>T (p.Ala589Val) c.1763C>T (p.Ala588Val) | gnomAD v4 |
| 16 | g.56884146C>A | CA495604561 | SLC12A3 | c.1767C>A (p.Ala589=) c.1764C>A (p.Ala588=) | |
| 16 | g.56884146C>G | CA495604559 | SLC12A3 | c.1767C>G (p.Ala589=) c.1764C>G (p.Ala588=) | |
| 16 | g.56884146C>T | CA495604560 | SLC12A3 | c.1767C>T (p.Ala589=) c.1764C>T (p.Ala588=) | ClinVar |
| 16 | g.56884147C>A | CA395990752 | SLC12A3 | c.1768C>A (p.Leu590Ile) c.1765C>A (p.Leu589Ile) | |
| 16 | g.56884147C= | CA2224356203 | SLC12A3 | c.1768C= (p.Leu590=) c.1765C= (p.Leu589=) | |
| 16 | g.56884147C>G | CA395990756 | SLC12A3 | c.1768C>G (p.Leu590Val) c.1765C>G (p.Leu589Val) | gnomAD v4 COSMIC |
| 16 | g.56884147C>T | CA281504566 | SLC12A3 | c.1768C>T (p.Leu590Phe) c.1765C>T (p.Leu589Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884148T>A | CA395990762 | SLC12A3 | c.1769T>A (p.Leu590His) c.1766T>A (p.Leu589His) | |
| 16 | g.56884148T>C | CA395990764 | SLC12A3 | c.1769T>C (p.Leu590Pro) c.1766T>C (p.Leu589Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884148T>G | CA395990767 | SLC12A3 | c.1769T>G (p.Leu590Arg) c.1766T>G (p.Leu589Arg) | |
| 16 | g.56884148T= | CA2224356204 | SLC12A3 | c.1769T= (p.Leu590=) c.1766T= (p.Leu589=) | |
| 16 | g.56884149C>A | CA495604562 | SLC12A3 | c.1770C>A (p.Leu590=) c.1767C>A (p.Leu589=) | dbSNP |
| 16 | g.56884149C= | CA2224356205 | SLC12A3 | c.1770C= (p.Leu590=) c.1767C= (p.Leu589=) | |
| 16 | g.56884149C>G | CA495604564 | SLC12A3 | c.1770C>G (p.Leu590=) c.1767C>G (p.Leu589=) | COSMIC |
| 16 | g.56884149C>T | CA495604563 | SLC12A3 | c.1770C>T (p.Leu590=) c.1767C>T (p.Leu589=) | gnomAD v4 |
| 16 | g.56884150A>C | CA395990769 | SLC12A3 | c.1771A>C (p.Ile591Leu) c.1768A>C (p.Ile590Leu) | |
| 16 | g.56884150A>G | CA395990770 | SLC12A3 | c.1771A>G (p.Ile591Val) c.1768A>G (p.Ile590Val) | |
| 16 | g.56884150A>T | CA395990773 | SLC12A3 | c.1771A>T (p.Ile591Phe) c.1768A>T (p.Ile590Phe) | |
| 16 | g.56884151T>A | CA395990777 | SLC12A3 | c.1772T>A (p.Ile591Asn) c.1769T>A (p.Ile590Asn) | |
| 16 | g.56884151T>C | CA395990778 | SLC12A3 | c.1772T>C (p.Ile591Thr) c.1769T>C (p.Ile590Thr) | |
| 16 | g.56884151T>G | CA395990781 | SLC12A3 | c.1772T>G (p.Ile591Ser) c.1769T>G (p.Ile590Ser) | |
| 16 | g.56884152C>A | CA495604565 | SLC12A3 | c.1773C>A (p.Ile591=) c.1770C>A (p.Ile590=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884152C= | CA2224356206 | SLC12A3 | c.1773C= (p.Ile591=) c.1770C= (p.Ile590=) | |
| 16 | g.56884152C>G | CA395990787 | SLC12A3 | c.1773C>G (p.Ile591Met) c.1770C>G (p.Ile590Met) | |
| 16 | g.56884152C>T | CA8069599 | SLC12A3 | c.1773C>T (p.Ile591=) c.1770C>T (p.Ile590=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884153G>A | CA8069600 | SLC12A3 | c.1774G>A (p.Ala592Thr) c.1771G>A (p.Ala591Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56884153G>C | CA395990793 | SLC12A3 | c.1774G>C (p.Ala592Pro) c.1771G>C (p.Ala591Pro) | |
| 16 | g.56884153G= | CA2224356207 | SLC12A3 | c.1774G= (p.Ala592=) c.1771G= (p.Ala591=) | |
| 16 | g.56884153G>T | CA395990795 | SLC12A3 | c.1774G>T (p.Ala592Ser) c.1771G>T (p.Ala591Ser) | |
| 16 | g.56884154C>A | CA395990797 | SLC12A3 | c.1775C>A (p.Ala592Asp) c.1772C>A (p.Ala591Asp) | |
| 16 | g.56884154C= | CA2224356208 | SLC12A3 | c.1775C= (p.Ala592=) c.1772C= (p.Ala591=) | |
| 16 | g.56884154C>G | CA395990800 | SLC12A3 | c.1775C>G (p.Ala592Gly) c.1772C>G (p.Ala591Gly) | |
| 16 | g.56884154C>T | CA8069601 | SLC12A3 | c.1775C>T (p.Ala592Val) c.1772C>T (p.Ala591Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884155C>A | CA495604568 | SLC12A3 | c.1776C>A (p.Ala592=) c.1773C>A (p.Ala591=) | |
| 16 | g.56884155C= | CA2224356209 | SLC12A3 | c.1776C= (p.Ala592=) c.1773C= (p.Ala591=) | |
| 16 | g.56884155C>G | CA495604569 | SLC12A3 | c.1776C>G (p.Ala592=) c.1773C>G (p.Ala591=) | dbSNP gnomAD v4 |
| 16 | g.56884155C>T | CA495604571 | SLC12A3 | c.1776C>T (p.Ala592=) c.1773C>T (p.Ala591=) | |
| 16 | g.56884156A= | CA2224356210 | SLC12A3 | c.1777A= (p.Ile593=) c.1774A= (p.Ile592=) | |
| 16 | g.56884156A>C | CA8069602 | SLC12A3 | c.1777A>C (p.Ile593Leu) c.1774A>C (p.Ile592Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884156A>G | CA395990808 | SLC12A3 | c.1777A>G (p.Ile593Val) c.1774A>G (p.Ile592Val) | |
| 16 | g.56884156A>T | CA395990811 | SLC12A3 | c.1777A>T (p.Ile593Phe) c.1774A>T (p.Ile592Phe) | |
| 16 | g.56884156_56884200del | CA2633373160 | SLC12A3 | c.1777_1821del (p.Ile593_Lys607del) c.1774_1818del (p.Ile592_Lys606del) | gnomAD v4 |
| 16 | g.56884157T>A | CA395990814 | SLC12A3 | c.1778T>A (p.Ile593Asn) c.1775T>A (p.Ile592Asn) | gnomAD v4 |
| 16 | g.56884157T>C | CA395990826 | SLC12A3 | c.1778T>C (p.Ile593Thr) c.1775T>C (p.Ile592Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884157T>G | CA395990829 | SLC12A3 | c.1778T>G (p.Ile593Ser) c.1775T>G (p.Ile592Ser) | |
| 16 | g.56884157T= | CA2224356211 | SLC12A3 | c.1778T= (p.Ile593=) c.1775T= (p.Ile592=) | |
| 16 | g.56884158T>A | CA495604572 | SLC12A3 | c.1779T>A (p.Ile593=) c.1776T>A (p.Ile592=) | |
| 16 | g.56884158T>C | CA495604573 | SLC12A3 | c.1779T>C (p.Ile593=) c.1776T>C (p.Ile592=) | |
| 16 | g.56884158T>G | CA281504601 | SLC12A3 | c.1779T>G (p.Ile593Met) c.1776T>G (p.Ile592Met) | dbSNP |
| 16 | g.56884158T= | CA2224356212 | SLC12A3 | c.1779T= (p.Ile593=) c.1776T= (p.Ile592=) | |
| 16 | g.56884159G>A | CA395990835 | SLC12A3 | c.1780G>A (p.Gly594Ser) c.1777G>A (p.Gly593Ser) | |
| 16 | g.56884159G>C | CA395990837 | SLC12A3 | c.1780G>C (p.Gly594Arg) c.1777G>C (p.Gly593Arg) | |
| 16 | g.56884159G>T | CA395990832 | SLC12A3 | c.1780G>T (p.Gly594Cys) c.1777G>T (p.Gly593Cys) | |
| 16 | g.56884160G>A | CA395990844 | SLC12A3 | c.1781G>A (p.Gly594Asp) c.1778G>A (p.Gly593Asp) | |
| 16 | g.56884160G>C | CA395990840 | SLC12A3 | c.1781G>C (p.Gly594Ala) c.1778G>C (p.Gly593Ala) | |
| 16 | g.56884160G= | CA2224356213 | SLC12A3 | c.1781G= (p.Gly594=) c.1778G= (p.Gly593=) | |
| 16 | g.56884160G>T | CA8069603 | SLC12A3 | c.1781G>T (p.Gly594Val) c.1778G>T (p.Gly593Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884161C>A | CA495604574 | SLC12A3 | c.1782C>A (p.Gly594=) c.1779C>A (p.Gly593=) | |
| 16 | g.56884161C= | CA2224356214 | SLC12A3 | c.1782C= (p.Gly594=) c.1779C= (p.Gly593=) | |
| 16 | g.56884161C>G | CA495604575 | SLC12A3 | c.1782C>G (p.Gly594=) c.1779C>G (p.Gly593=) | |
| 16 | g.56884161C>T | CA495604576 | SLC12A3 | c.1782C>T (p.Gly594=) c.1779C>T (p.Gly593=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884162G>A | CA8069604 | SLC12A3 | c.1783G>A (p.Val595Met) c.1780G>A (p.Val594Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884162G>C | CA395990857 | SLC12A3 | c.1783G>C (p.Val595Leu) c.1780G>C (p.Val594Leu) | gnomAD v4 |
| 16 | g.56884162G= | CA2224356215 | SLC12A3 | c.1783G= (p.Val595=) c.1780G= (p.Val594=) | |
| 16 | g.56884162G>T | CA281504608 | SLC12A3 | c.1783G>T (p.Val595Leu) c.1780G>T (p.Val594Leu) | dbSNP gnomAD v4 |
| 16 | g.56884163T>A | CA395990862 | SLC12A3 | c.1784T>A (p.Val595Glu) c.1781T>A (p.Val594Glu) | |
| 16 | g.56884163T>C | CA395990861 | SLC12A3 | c.1784T>C (p.Val595Ala) c.1781T>C (p.Val594Ala) | |
| 16 | g.56884163T>G | CA395990860 | SLC12A3 | c.1784T>G (p.Val595Gly) c.1781T>G (p.Val594Gly) | |
| 16 | g.56884164G>A | CA495604579 | SLC12A3 | c.1785G>A (p.Val595=) c.1782G>A (p.Val594=) | |
| 16 | g.56884164G>C | CA495604578 | SLC12A3 | c.1785G>C (p.Val595=) c.1782G>C (p.Val594=) | |
| 16 | g.56884164G>T | CA495604577 | SLC12A3 | c.1785G>T (p.Val595=) c.1782G>T (p.Val594=) | |
| 16 | g.56884165G>A | CA395990863 | SLC12A3 | c.1786G>A (p.Val596Met) c.1783G>A (p.Val595Met) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56884165G>C | CA395990866 | SLC12A3 | c.1786G>C (p.Val596Leu) c.1783G>C (p.Val595Leu) | |
| 16 | g.56884165G= | CA2224356216 | SLC12A3 | c.1786G= (p.Val596=) c.1783G= (p.Val595=) | |
| 16 | g.56884165G>T | CA281504612 | SLC12A3 | c.1786G>T (p.Val596Leu) c.1783G>T (p.Val595Leu) | dbSNP gnomAD v4 |
| 16 | g.56884166T>A | CA395990873 | SLC12A3 | c.1787T>A (p.Val596Glu) c.1784T>A (p.Val595Glu) | |
| 16 | g.56884166T>C | CA395990876 | SLC12A3 | c.1787T>C (p.Val596Ala) c.1784T>C (p.Val595Ala) | |
| 16 | g.56884166T>G | CA395990879 | SLC12A3 | c.1787T>G (p.Val596Gly) c.1784T>G (p.Val595Gly) | |
| 16 | g.56884167G>A | CA495604580 | SLC12A3 | c.1788G>A (p.Val596=) c.1785G>A (p.Val595=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56884167G>C | CA495604581 | SLC12A3 | c.1788G>C (p.Val596=) c.1785G>C (p.Val595=) | |
| 16 | g.56884167G>T | CA495604582 | SLC12A3 | c.1788G>T (p.Val596=) c.1785G>T (p.Val595=) | |
| 16 | g.56884168C>A | CA395990884 | SLC12A3 | c.1789C>A (p.Leu597Ile) c.1786C>A (p.Leu596Ile) | |
| 16 | g.56884168C>G | CA395990882 | SLC12A3 | c.1789C>G (p.Leu597Val) c.1786C>G (p.Leu596Val) | |
| 16 | g.56884168C>T | CA395990883 | SLC12A3 | c.1789C>T (p.Leu597Phe) c.1786C>T (p.Leu596Phe) | |
| 16 | g.56884171_56884176del | CA2807160387 | SLC12A3 | c.1792_1797del (p.Phe598_Leu599del) c.1789_1794del (p.Phe597_Leu598del) | |
| 16 | g.56884169T>A | CA395990886 | SLC12A3 | c.1790T>A (p.Leu597His) c.1787T>A (p.Leu596His) | |
| 16 | g.56884169T>C | CA395990889 | SLC12A3 | c.1790T>C (p.Leu597Pro) c.1787T>C (p.Leu596Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884169T>G | CA395990891 | SLC12A3 | c.1790T>G (p.Leu597Arg) c.1787T>G (p.Leu596Arg) | |
| 16 | g.56884169T= | CA2224356217 | SLC12A3 | c.1790T= (p.Leu597=) c.1787T= (p.Leu596=) | |
| 16 | g.56884170C>A | CA495604583 | SLC12A3 | c.1791C>A (p.Leu597=) c.1788C>A (p.Leu596=) | |
| 16 | g.56884170C= | CA2224356218 | SLC12A3 | c.1791C= (p.Leu597=) c.1788C= (p.Leu596=) | |
| 16 | g.56884170C>G | CA495604584 | SLC12A3 | c.1791C>G (p.Leu597=) c.1788C>G (p.Leu596=) | |
| 16 | g.56884170C>T | CA8069605 | SLC12A3 | c.1791C>T (p.Leu597=) c.1788C>T (p.Leu596=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884172_56884181del | CA645585193 | SLC12A3 | c.1793_1802del (p.Phe598SerfsTer10) c.1790_1799del (p.Phe597SerfsTer10) | COSMIC |
| 16 | g.56884171T>A | CA395990902 | SLC12A3 | c.1792T>A (p.Phe598Ile) c.1789T>A (p.Phe597Ile) | |
| 16 | g.56884171T>C | CA395990904 | SLC12A3 | c.1792T>C (p.Phe598Leu) c.1789T>C (p.Phe597Leu) | |
| 16 | g.56884171T>G | CA395990906 | SLC12A3 | c.1792T>G (p.Phe598Val) c.1789T>G (p.Phe597Val) | |
| 16 | g.56884172T>A | CA395990911 | SLC12A3 | c.1793T>A (p.Phe598Tyr) c.1790T>A (p.Phe597Tyr) | |
| 16 | g.56884172T>C | CA395990917 | SLC12A3 | c.1793T>C (p.Phe598Ser) c.1790T>C (p.Phe597Ser) | gnomAD v4 |
| 16 | g.56884172T>G | CA395990920 | SLC12A3 | c.1793T>G (p.Phe598Cys) c.1790T>G (p.Phe597Cys) | |
| 16 | g.56884173C>A | CA395990926 | SLC12A3 | c.1794C>A (p.Phe598Leu) c.1791C>A (p.Phe597Leu) | |
| 16 | g.56884173C>G | CA395990929 | SLC12A3 | c.1794C>G (p.Phe598Leu) c.1791C>G (p.Phe597Leu) | |
| 16 | g.56884173C>T | CA495604585 | SLC12A3 | c.1794C>T (p.Phe598=) c.1791C>T (p.Phe597=) | |
| 16 | g.56884174C>A | CA395990933 | SLC12A3 | c.1795C>A (p.Leu599Ile) c.1792C>A (p.Leu598Ile) | |
| 16 | g.56884174C= | CA2224356219 | SLC12A3 | c.1795C= (p.Leu599=) c.1792C= (p.Leu598=) | |
| 16 | g.56884174C>G | CA395990946 | SLC12A3 | c.1795C>G (p.Leu599Val) c.1792C>G (p.Leu598Val) | |
| 16 | g.56884174C>T | CA8069606 | SLC12A3 | c.1795C>T (p.Leu599Phe) c.1792C>T (p.Leu598Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884175_56884176dup | CA2695223451 | SLC12A3 | c.1796_1797dup (p.Leu600SerfsTer12) c.1793_1794dup (p.Leu599SerfsTer12) | |
| 16 | g.56884175T>A | CA395990950 | SLC12A3 | c.1796T>A (p.Leu599His) c.1793T>A (p.Leu598His) | |
| 16 | g.56884175T>C | CA8069607 | SLC12A3 | c.1796T>C (p.Leu599Pro) c.1793T>C (p.Leu598Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884175T>G | CA395990954 | SLC12A3 | c.1796T>G (p.Leu599Arg) c.1793T>G (p.Leu598Arg) | |
| 16 | g.56884175T= | CA2224356220 | SLC12A3 | c.1796T= (p.Leu599=) c.1793T= (p.Leu598=) | |
| 16 | g.56884176C>A | CA495604586 | SLC12A3 | c.1797C>A (p.Leu599=) c.1794C>A (p.Leu598=) | |
| 16 | g.56884176C= | CA2224356221 | SLC12A3 | c.1797C= (p.Leu599=) c.1794C= (p.Leu598=) | |
| 16 | g.56884176C>G | CA495604587 | SLC12A3 | c.1797C>G (p.Leu599=) c.1794C>G (p.Leu598=) | |
| 16 | g.56884176C>T | CA8069608 | SLC12A3 | c.1797C>T (p.Leu599=) c.1794C>T (p.Leu598=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884177C>A | CA395990960 | SLC12A3 | c.1798C>A (p.Leu600Met) c.1795C>A (p.Leu599Met) | |
| 16 | g.56884177C>G | CA395990963 | SLC12A3 | c.1798C>G (p.Leu600Val) c.1795C>G (p.Leu599Val) | |
| 16 | g.56884177C>T | CA495604588 | SLC12A3 | c.1798C>T (p.Leu600=) c.1795C>T (p.Leu599=) | ClinVar COSMIC |
| 16 | g.56884178T>A | CA395990965 | SLC12A3 | c.1799T>A (p.Leu600Gln) c.1796T>A (p.Leu599Gln) | |
| 16 | g.56884178T>C | CA395990969 | SLC12A3 | c.1799T>C (p.Leu600Pro) c.1796T>C (p.Leu599Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884178T>G | CA395990971 | SLC12A3 | c.1799T>G (p.Leu600Arg) c.1796T>G (p.Leu599Arg) | |
| 16 | g.56884178T= | CA2224356222 | SLC12A3 | c.1799T= (p.Leu600=) c.1796T= (p.Leu599=) | |
| 16 | g.56884179G>A | CA495604589 | SLC12A3 | c.1800G>A (p.Leu600=) c.1797G>A (p.Leu599=) | |
| 16 | g.56884179G>C | CA8069609 | SLC12A3 | c.1800G>C (p.Leu600=) c.1797G>C (p.Leu599=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884179G= | CA2224356223 | SLC12A3 | c.1800G= (p.Leu600=) c.1797G= (p.Leu599=) | |
| 16 | g.56884179G>T | CA495604590 | SLC12A3 | c.1800G>T (p.Leu600=) c.1797G>T (p.Leu599=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884180C>A | CA395990974 | SLC12A3 | c.1801C>A (p.Leu601Ile) c.1798C>A (p.Leu600Ile) | |
| 16 | g.56884180C= | CA2224356224 | SLC12A3 | c.1801C= (p.Leu601=) c.1798C= (p.Leu600=) | |
| 16 | g.56884180C>G | CA395990977 | SLC12A3 | c.1801C>G (p.Leu601Val) c.1798C>G (p.Leu600Val) | |
| 16 | g.56884180C>T | CA281504633 | SLC12A3 | c.1801C>T (p.Leu601Phe) c.1798C>T (p.Leu600Phe) | dbSNP |
| 16 | g.56884181T>A | CA395990990 | SLC12A3 | c.1802T>A (p.Leu601His) c.1799T>A (p.Leu600His) | |
| 16 | g.56884181T>C | CA281504636 | SLC12A3 | c.1802T>C (p.Leu601Pro) c.1799T>C (p.Leu600Pro) | dbSNP gnomAD v4 |
| 16 | g.56884181T>G | CA395990992 | SLC12A3 | c.1802T>G (p.Leu601Arg) c.1799T>G (p.Leu600Arg) | |
| 16 | g.56884181T= | CA2224356225 | SLC12A3 | c.1802T= (p.Leu601=) c.1799T= (p.Leu600=) | |
| 16 | g.56884182C>A | CA495604591 | SLC12A3 | c.1803C>A (p.Leu601=) c.1800C>A (p.Leu600=) | |
| 16 | g.56884182C= | CA2224356226 | SLC12A3 | c.1803C= (p.Leu601=) c.1800C= (p.Leu600=) | |
| 16 | g.56884182C>G | CA495604592 | SLC12A3 | c.1803C>G (p.Leu601=) c.1800C>G (p.Leu600=) | dbSNP |
| 16 | g.56884182C>T | CA495604593 | SLC12A3 | c.1803C>T (p.Leu601=) c.1800C>T (p.Leu600=) | ClinVar dbSNP |
| 16 | g.56884183T>A | CA8069610 | SLC12A3 | c.1804T>A (p.Tyr602Asn) c.1801T>A (p.Tyr601Asn) | dbSNP ExAC gnomAD v2 |
| 16 | g.56884183T>C | CA395990994 | SLC12A3 | c.1804T>C (p.Tyr602His) c.1801T>C (p.Tyr601His) | dbSNP |
| 16 | g.56884183T>G | CA395990996 | SLC12A3 | c.1804T>G (p.Tyr602Asp) c.1801T>G (p.Tyr601Asp) | |
| 16 | g.56884183T= | CA2224356227 | SLC12A3 | c.1804T= (p.Tyr602=) c.1801T= (p.Tyr601=) | |
| 16 | g.56884184_56884185del | CA2499223597 | SLC12A3 | c.1805_1806del (p.Tyr602CysfsTer?) c.1802_1803del (p.Tyr601CysfsTer?) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56884184A= | CA2224356228 | SLC12A3 | c.1805A= (p.Tyr602=) c.1802A= (p.Tyr601=) | |
| 16 | g.56884184A>C | CA395990998 | SLC12A3 | c.1805A>C (p.Tyr602Ser) c.1802A>C (p.Tyr601Ser) | |
| 16 | g.56884184A>G | CA8069611 | SLC12A3 | c.1805A>G (p.Tyr602Cys) c.1802A>G (p.Tyr601Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884184A>T | CA395991001 | SLC12A3 | c.1805A>T (p.Tyr602Phe) c.1802A>T (p.Tyr601Phe) | |
| 16 | g.56884185T>A | CA395991004 | SLC12A3 | c.1806T>A (p.Tyr602Ter) c.1803T>A (p.Tyr601Ter) | |
| 16 | g.56884185T>C | CA281504640 | SLC12A3 | c.1806T>C (p.Tyr602=) c.1803T>C (p.Tyr601=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56884185T>G | CA395991005 | SLC12A3 | c.1806T>G (p.Tyr602Ter) c.1803T>G (p.Tyr601Ter) | |
| 16 | g.56884185T= | CA2224356229 | SLC12A3 | c.1806T= (p.Tyr602=) c.1803T= (p.Tyr601=) | |
| 16 | g.56884186del | CA2573152367 | SLC12A3 | c.1807del (p.Val603SerfsTer8) c.1804del (p.Val602SerfsTer8) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56884186G>A | CA395991008 | SLC12A3 | c.1807G>A (p.Val603Ile) c.1804G>A (p.Val602Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56884186G>C | CA395991010 | SLC12A3 | c.1807G>C (p.Val603Leu) c.1804G>C (p.Val602Leu) | |
| 16 | g.56884186G= | CA2224356230 | SLC12A3 | c.1807G= (p.Val603=) c.1804G= (p.Val602=) | |
| 16 | g.56884186G>T | CA395991012 | SLC12A3 | c.1807G>T (p.Val603Phe) c.1804G>T (p.Val602Phe) | |
| 16 | g.56884187T>A | CA395991016 | SLC12A3 | c.1808T>A (p.Val603Asp) c.1805T>A (p.Val602Asp) | |
| 16 | g.56884187T>C | CA395991017 | SLC12A3 | c.1808T>C (p.Val603Ala) c.1805T>C (p.Val602Ala) | |
| 16 | g.56884187T>G | CA395991015 | SLC12A3 | c.1808T>G (p.Val603Gly) c.1805T>G (p.Val602Gly) | |
| 16 | g.56884188C>A | CA495604596 | SLC12A3 | c.1809C>A (p.Val603=) c.1806C>A (p.Val602=) | |
| 16 | g.56884188C= | CA2224356231 | SLC12A3 | c.1809C= (p.Val603=) c.1806C= (p.Val602=) | |
| 16 | g.56884188C>G | CA495604594 | SLC12A3 | c.1809C>G (p.Val603=) c.1806C>G (p.Val602=) | |
| 16 | g.56884188C>T | CA495604595 | SLC12A3 | c.1809C>T (p.Val603=) c.1806C>T (p.Val602=) | ClinVar dbSNP |
| 16 | g.56884189A>C | CA395991023 | SLC12A3 | c.1810A>C (p.Ile604Leu) c.1807A>C (p.Ile603Leu) | |
| 16 | g.56884189A>G | CA395991020 | SLC12A3 | c.1810A>G (p.Ile604Val) c.1807A>G (p.Ile603Val) | |
| 16 | g.56884189A>T | CA395991021 | SLC12A3 | c.1810A>T (p.Ile604Phe) c.1807A>T (p.Ile603Phe) | |
| 16 | g.56884190T>A | CA395991026 | SLC12A3 | c.1811T>A (p.Ile604Asn) c.1808T>A (p.Ile603Asn) | |
| 16 | g.56884190T>C | CA395991051 | SLC12A3 | c.1811T>C (p.Ile604Thr) c.1808T>C (p.Ile603Thr) | gnomAD v4 |
| 16 | g.56884190T>G | CA395991053 | SLC12A3 | c.1811T>G (p.Ile604Ser) c.1808T>G (p.Ile603Ser) | |
| 16 | g.56884191C>A | CA495604597 | SLC12A3 | c.1812C>A (p.Ile604=) c.1809C>A (p.Ile603=) | |
| 16 | g.56884191C>G | CA395991060 | SLC12A3 | c.1812C>G (p.Ile604Met) c.1809C>G (p.Ile603Met) | |
| 16 | g.56884191C>T | CA495604598 | SLC12A3 | c.1812C>T (p.Ile604=) c.1809C>T (p.Ile603=) | gnomAD v4 |
| 16 | g.56884192T>A | CA395991067 | SLC12A3 | c.1813T>A (p.Tyr605Asn) c.1810T>A (p.Tyr604Asn) | |
| 16 | g.56884192T>C | CA395991063 | SLC12A3 | c.1813T>C (p.Tyr605His) c.1810T>C (p.Tyr604His) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56884192T>G | CA395991065 | SLC12A3 | c.1813T>G (p.Tyr605Asp) c.1810T>G (p.Tyr604Asp) | |
| 16 | g.56884192T= | CA2224350668 | SLC12A3 | c.1813T= (p.Tyr605=) c.1810T= (p.Tyr604=) | |
| 16 | g.56884193A>C | CA395991070 | SLC12A3 | c.1814A>C (p.Tyr605Ser) c.1811A>C (p.Tyr604Ser) | |
| 16 | g.56884193A>G | CA395991072 | SLC12A3 | c.1814A>G (p.Tyr605Cys) c.1811A>G (p.Tyr604Cys) | |
| 16 | g.56884193A>T | CA395991073 | SLC12A3 | c.1814A>T (p.Tyr605Phe) c.1811A>T (p.Tyr604Phe) | |
| 16 | g.56884194C>A | CA395991074 | SLC12A3 | c.1815C>A (p.Tyr605Ter) c.1812C>A (p.Tyr604Ter) | |
| 16 | g.56884194C= | CA2224350670 | SLC12A3 | c.1815C= (p.Tyr605=) c.1812C= (p.Tyr604=) | |
| 16 | g.56884194C>G | CA395991075 | SLC12A3 | c.1815C>G (p.Tyr605Ter) c.1812C>G (p.Tyr604Ter) | |
| 16 | g.56884194C>T | CA495604599 | SLC12A3 | c.1815C>T (p.Tyr605=) c.1812C>T (p.Tyr604=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884195A>C | CA395991077 | SLC12A3 | c.1816A>C (p.Lys606Gln) c.1813A>C (p.Lys605Gln) | |
| 16 | g.56884195A>G | CA395991081 | SLC12A3 | c.1816A>G (p.Lys606Glu) c.1813A>G (p.Lys605Glu) | gnomAD v4 |
| 16 | g.56884195A>T | CA395991079 | SLC12A3 | c.1816A>T (p.Lys606Ter) c.1813A>T (p.Lys605Ter) | |
| 16 | g.56884196A= | CA2224350674 | SLC12A3 | c.1817A= (p.Lys606=) c.1814A= (p.Lys605=) | |
| 16 | g.56884196A>C | CA395991083 | SLC12A3 | c.1817A>C (p.Lys606Thr) c.1814A>C (p.Lys605Thr) | |
| 16 | g.56884196A>G | CA395991085 | SLC12A3 | c.1817A>G (p.Lys606Arg) c.1814A>G (p.Lys605Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884196A>T | CA395991087 | SLC12A3 | c.1817A>T (p.Lys606Met) c.1814A>T (p.Lys605Met) | |
| 16 | g.56884197G>A | CA495604600 | SLC12A3 | c.1818G>A (p.Lys606=) c.1815G>A (p.Lys605=) | |
| 16 | g.56884197G>C | CA395991089 | SLC12A3 | c.1818G>C (p.Lys606Asn) c.1815G>C (p.Lys605Asn) | |
| 16 | g.56884197G>T | CA395991091 | SLC12A3 | c.1818G>T (p.Lys606Asn) c.1815G>T (p.Lys605Asn) | |
| 16 | g.56884198A>C | CA395991093 | SLC12A3 | c.1819A>C (p.Lys607Gln) c.1816A>C (p.Lys606Gln) | |
| 16 | g.56884198A>G | CA395991096 | SLC12A3 | c.1819A>G (p.Lys607Glu) c.1816A>G (p.Lys606Glu) | |
| 16 | g.56884198A>T | CA395991098 | SLC12A3 | c.1819A>T (p.Lys607Ter) c.1816A>T (p.Lys606Ter) | |
| 16 | g.56884199A= | CA2224350677 | SLC12A3 | c.1820A= (p.Lys607=) c.1817A= (p.Lys606=) | |
| 16 | g.56884199A>C | CA395991100 | SLC12A3 | c.1820A>C (p.Lys607Thr) c.1817A>C (p.Lys606Thr) | |
| 16 | g.56884199A>G | CA395991103 | SLC12A3 | c.1820A>G (p.Lys607Arg) c.1817A>G (p.Lys606Arg) | |
| 16 | g.56884199A>T | CA395991106 | SLC12A3 | c.1820A>T (p.Lys607Met) c.1817A>T (p.Lys606Met) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56884200G>A | CA495604601 | SLC12A3 | c.1821G>A (p.Lys607=) c.1818G>A (p.Lys606=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884200G>C | CA395991110 | SLC12A3 | c.1821G>C (p.Lys607Asn) c.1818G>C (p.Lys606Asn) | |
| 16 | g.56884200G= | CA2224350679 | SLC12A3 | c.1821G= (p.Lys607=) c.1818G= (p.Lys606=) | |
| 16 | g.56884200G>T | CA395991108 | SLC12A3 | c.1821G>T (p.Lys607Asn) c.1818G>T (p.Lys606Asn) | |
| 16 | g.56884201C>A | CA395991114 | SLC12A3 | c.1822C>A (p.Pro608Thr) c.1819C>A (p.Pro607Thr) | |
| 16 | g.56884201C>G | CA395991118 | SLC12A3 | c.1822C>G (p.Pro608Ala) c.1819C>G (p.Pro607Ala) | gnomAD v4 |
| 16 | g.56884201C>T | CA395991116 | SLC12A3 | c.1822C>T (p.Pro608Ser) c.1819C>T (p.Pro607Ser) | |
| 16 | g.56884202C>A | CA395991121 | SLC12A3 | c.1823C>A (p.Pro608Gln) c.1820C>A (p.Pro607Gln) | |
| 16 | g.56884202C>G | CA395991122 | SLC12A3 | c.1823C>G (p.Pro608Arg) c.1820C>G (p.Pro607Arg) | |
| 16 | g.56884202C>T | CA395991124 | SLC12A3 | c.1823C>T (p.Pro608Leu) c.1820C>T (p.Pro607Leu) | gnomAD v4 |
| 16 | g.56884205_56884217del | CA2633373162 | SLC12A3 | c.1825+1_1825+13del c.1822+1_1822+13del | gnomAD v4 |
| 16 | g.56884203A>C | CA495604602 | SLC12A3 | c.1824A>C (p.Pro608=) c.1821A>C (p.Pro607=) | |
| 16 | g.56884203A>G | CA495604603 | SLC12A3 | c.1824A>G (p.Pro608=) c.1821A>G (p.Pro607=) | |
| 16 | g.56884203A>T | CA495604604 | SLC12A3 | c.1824A>T (p.Pro608=) c.1821A>T (p.Pro607=) | |
| 16 | g.56884204G>A | CA395991126 | SLC12A3 | c.1825G>A (p.Glu609Lys) c.1822G>A (p.Glu608Lys) | COSMIC |
| 16 | g.56884204G>C | CA395991128 | SLC12A3 | c.1825G>C (p.Glu609Gln) c.1822G>C (p.Glu608Gln) | |
| 16 | g.56884204G>T | CA395991129 | SLC12A3 | c.1825G>T (p.Glu609Ter) c.1822G>T (p.Glu608Ter) | |
| 16 | g.56884205del | CA2633373163 | SLC12A3 | c.1825+1del c.1822+1del | gnomAD v4 |
| 16 | g.56884207_56884248del | CA2633373164 | SLC12A3 | c.1825+3_1825+44del c.1822+3_1822+44del | gnomAD v4 |
| 16 | g.56884205G>A | CA395991131 | SLC12A3 | c.1825+1G>A (n.1825+1G>A) c.1822+1G>A (n.1822+1G>A) | ClinVar |
| 16 | g.56884205G>C | CA395991133 | SLC12A3 | c.1825+1G>C (n.1825+1G>C) c.1822+1G>C (n.1822+1G>C) | |
| 16 | g.56884205G>T | CA395991135 | SLC12A3 | c.1825+1G>T (n.1825+1G>T) c.1822+1G>T (n.1822+1G>T) | |
| 16 | g.56884206T>A | CA395991138 | SLC12A3 | c.1825+2T>A (n.1825+2T>A) c.1822+2T>A (n.1822+2T>A) | |
| 16 | g.56884206T>C | CA395991140 | SLC12A3 | c.1825+2T>C (n.1825+2T>C) c.1822+2T>C (n.1822+2T>C) | dbSNP |
| 16 | g.56884206T>G | CA395991142 | SLC12A3 | c.1825+2T>G (n.1825+2T>G) c.1822+2T>G (n.1822+2T>G) | |
| 16 | g.56884206T= | CA2224350683 | SLC12A3 | c.1825+2T= (n.1825+2T=) c.1822+2T= (n.1822+2T=) | |
| 16 | g.56884207G>A | CA8069612 | SLC12A3 | c.1825+3G>A (n.1825+3G>A) c.1822+3G>A (n.1822+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884207G= | CA2224350686 | SLC12A3 | c.1825+3G= (n.1825+3G=) c.1822+3G= (n.1822+3G=) | |
| 16 | g.56884208C>A | CA2576001614 | SLC12A3 | c.1825+4C>A (n.1825+4C>A) c.1822+4C>A (n.1822+4C>A) | |
| 16 | g.56884208C= | CA2224350689 | SLC12A3 | c.1825+4C= (n.1825+4C=) c.1822+4C= (n.1822+4C=) | |
| 16 | g.56884208C>G | CA281504652 | SLC12A3 | c.1825+4C>G (n.1825+4C>G) c.1822+4C>G (n.1822+4C>G) | dbSNP |
| 16 | g.56884208C>T | CA8069613 | SLC12A3 | c.1825+4C>T (n.1825+4C>T) c.1822+4C>T (n.1822+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884209G>A | CA8069614 | SLC12A3 | c.1825+5G>A (n.1825+5G>A) c.1822+5G>A (n.1822+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884209G>C | CA622656622 | SLC12A3 | c.1825+5G>C (n.1825+5G>C) c.1822+5G>C (n.1822+5G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884209G= | CA2224350698 | SLC12A3 | c.1825+5G= (n.1825+5G=) c.1822+5G= (n.1822+5G=) | |
| 16 | g.56884209G>T | CA8069615 | SLC12A3 | c.1825+5G>T (n.1825+5G>T) c.1822+5G>T (n.1822+5G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884210C= | CA2224350701 | SLC12A3 | c.1825+6C= (n.1825+6C=) c.1822+6C= (n.1822+6C=) | |
| 16 | g.56884210C>T | CA2224350703 | SLC12A3 | c.1825+6C>T (n.1825+6C>T) c.1822+6C>T (n.1822+6C>T) | dbSNP gnomAD v4 |
| 16 | g.56884211A= | CA2224350704 | SLC12A3 | c.1825+7A= (n.1825+7A=) c.1822+7A= (n.1822+7A=) | |
| 16 | g.56884211A>G | CA622656623 | SLC12A3 | c.1825+7A>G (n.1825+7A>G) c.1822+7A>G (n.1822+7A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884212T>C | CA2633373165 | SLC12A3 | c.1825+8T>C (n.1825+8T>C) c.1822+8T>C (n.1822+8T>C) | gnomAD v4 |
| 16 | g.56884213C>A | CA8069616 | SLC12A3 | c.1825+9C>A (n.1825+9C>A) c.1822+9C>A (n.1822+9C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884213C= | CA2224350706 | SLC12A3 | c.1825+9C= (n.1825+9C=) c.1822+9C= (n.1822+9C=) | |
| 16 | g.56884213C>G | CA977646256 | SLC12A3 | c.1825+9C>G (n.1825+9C>G) c.1822+9C>G (n.1822+9C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56884213C>T | CA2581264020 | SLC12A3 | c.1825+9C>T (n.1825+9C>T) c.1822+9C>T (n.1822+9C>T) | ClinVar |
| 16 | g.56884215C>T | CA2576001616 | SLC12A3 | c.1825+11C>T (n.1825+11C>T) c.1822+11C>T (n.1822+11C>T) | gnomAD v4 |
| 16 | g.56884216A>C | CA2576001617 | SLC12A3 | c.1825+12A>C (n.1825+12A>C) c.1822+12A>C (n.1822+12A>C) | |
| 16 | g.56884219T>C | CA2739266773 | SLC12A3 | c.1825+15T>C (n.1825+15T>C) c.1822+15T>C (n.1822+15T>C) | ClinVar |
| 16 | g.56884219T>G | CA2576001618 | SLC12A3 | c.1825+15T>G (n.1825+15T>G) c.1822+15T>G (n.1822+15T>G) | gnomAD v4 |
| 16 | g.56884219_56884230delinsTGCGGGGCCTCG | CA2224350711 | SLC12A3 | c.1825+15_1825+26delinsTGCGGGGCCTCG (n.1825+15_1825+26delinsTGCGGGGCCTCG) c.1822+15_1822+26delinsTGCGGGGCCTCG (n.1822+15_1822+26delinsTGCGGGGCCTCG) | |
| 16 | g.56884222_56884232del | CA622656697 | SLC12A3 | c.1825+18_1825+28del (n.1825+18_1825+28del) c.1822+18_1822+28del (n.1822+18_1822+28del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884221C>A | CA2807160391 | SLC12A3 | c.1825+17C>A (n.1825+17C>A) c.1822+17C>A (n.1822+17C>A) | |
| 16 | g.56884221C= | CA2224350713 | SLC12A3 | c.1825+17C= (n.1825+17C=) c.1822+17C= (n.1822+17C=) | |
| 16 | g.56884221C>G | CA2633373166 | SLC12A3 | c.1825+17C>G (n.1825+17C>G) c.1822+17C>G (n.1822+17C>G) | ClinVar gnomAD v4 |
| 16 | g.56884221C>T | CA8069617 | SLC12A3 | c.1825+17C>T (n.1825+17C>T) c.1822+17C>T (n.1822+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884222G>A | CA8069618 | SLC12A3 | c.1825+18G>A (n.1825+18G>A) c.1822+18G>A (n.1822+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884222G>C | CA2502995889 | SLC12A3 | c.1825+18G>C (n.1825+18G>C) c.1822+18G>C (n.1822+18G>C) | gnomAD v4 |
| 16 | g.56884222G= | CA2224350715 | SLC12A3 | c.1825+18G= (n.1825+18G=) c.1822+18G= (n.1822+18G=) | |
| 16 | g.56884222G>T | CA2633373167 | SLC12A3 | c.1825+18G>T (n.1825+18G>T) c.1822+18G>T (n.1822+18G>T) | gnomAD v4 |
| 16 | g.56884225del | CA2576001619 | SLC12A3 | c.1825+21del (n.1825+21del) c.1822+21del (n.1822+21del) | gnomAD v4 |
| 16 | g.56884223G>A | CA2501699461 | SLC12A3 | c.1825+19G>A (n.1825+19G>A) c.1822+19G>A (n.1822+19G>A) | |
| 16 | g.56884223G>C | CA8069619 | SLC12A3 | c.1825+19G>C (n.1825+19G>C) c.1822+19G>C (n.1822+19G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884223G= | CA2224350718 | SLC12A3 | c.1825+19G= (n.1825+19G=) c.1822+19G= (n.1822+19G=) | |
| 16 | g.56884224G>A | CA2633373168 | SLC12A3 | c.1825+20G>A (n.1825+20G>A) c.1822+20G>A (n.1822+20G>A) | gnomAD v4 |
| 16 | g.56884224G>T | CA2544730647 | SLC12A3 | c.1825+20G>T (n.1825+20G>T) c.1822+20G>T (n.1822+20G>T) | gnomAD v4 |
| 16 | g.56884225G>A | CA977646263 | SLC12A3 | c.1825+21G>A (n.1825+21G>A) c.1822+21G>A (n.1822+21G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56884225G= | CA2224350720 | SLC12A3 | c.1825+21G= (n.1825+21G=) c.1822+21G= (n.1822+21G=) | |
| 16 | g.56884226C>A | CA622656698 | SLC12A3 | c.1825+22C>A (n.1825+22C>A) c.1822+22C>A (n.1822+22C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884226C= | CA2224350721 | SLC12A3 | c.1825+22C= (n.1825+22C=) c.1822+22C= (n.1822+22C=) | |
| 16 | g.56884226C>T | CA2224350723 | SLC12A3 | c.1825+22C>T (n.1825+22C>T) c.1822+22C>T (n.1822+22C>T) | dbSNP gnomAD v4 |