Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56887882G>A | CA2633375810 | SLC12A3 | c.2179-43G>A (n.2179-43G>A) c.2176-43G>A (n.2176-43G>A) | gnomAD v4 |
16 | g.56887882G>C | CA8069772 | SLC12A3 | c.2179-43G>C (n.2179-43G>C) c.2176-43G>C (n.2176-43G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56887882G= | CA2224358029 | SLC12A3 | c.2179-43G= (n.2179-43G=) c.2176-43G= (n.2176-43G=) | |
16 | g.56887882_56887883delinsGC | CA2224358028 | SLC12A3 | c.2179-43_2179-42delinsGC (n.2179-43_2179-42delinsGC) c.2176-43_2176-42delinsGC (n.2176-43_2176-42delinsGC) | |
16 | g.56887883C>A | CA8069773 | SLC12A3 | c.2179-42C>A (n.2179-42C>A) c.2176-42C>A (n.2176-42C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56887883C= | CA2224358030 | SLC12A3 | c.2179-42C= (n.2179-42C=) c.2176-42C= (n.2176-42C=) | |
16 | g.56887886del | CA281509992 | SLC12A3 | c.2179-39del (n.2179-39del) c.2176-39del (n.2176-39del) | dbSNP |
16 | g.56887884C= | CA2224358031 | SLC12A3 | c.2179-41C= (n.2179-41C=) c.2176-41C= (n.2176-41C=) | |
16 | g.56887884C>G | CA622339005 | SLC12A3 | c.2179-41C>G (n.2179-41C>G) c.2176-41C>G (n.2176-41C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56887884C>T | CA2633375814 | SLC12A3 | c.2179-41C>T (n.2179-41C>T) c.2176-41C>T (n.2176-41C>T) | gnomAD v4 |
16 | g.56887885C>A | CA8069774 | SLC12A3 | c.2179-40C>A (n.2179-40C>A) c.2176-40C>A (n.2176-40C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887885C= | CA2224358032 | SLC12A3 | c.2179-40C= (n.2179-40C=) c.2176-40C= (n.2176-40C=) | |
16 | g.56887885C>T | CA2633375816 | SLC12A3 | c.2179-40C>T (n.2179-40C>T) c.2176-40C>T (n.2176-40C>T) | gnomAD v4 |
16 | g.56887886C>A | CA2576001982 | SLC12A3 | c.2179-39C>A (n.2179-39C>A) c.2176-39C>A (n.2176-39C>A) | gnomAD v4 |
16 | g.56887886C= | CA2224358033 | SLC12A3 | c.2179-39C= (n.2179-39C=) c.2176-39C= (n.2176-39C=) | |
16 | g.56887886C>G | CA2633375817 | SLC12A3 | c.2179-39C>G (n.2179-39C>G) c.2176-39C>G (n.2176-39C>G) | gnomAD v4 |
16 | g.56887886C>T | CA8069775 | SLC12A3 | c.2179-39C>T (n.2179-39C>T) c.2176-39C>T (n.2176-39C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56887887T>A | CA721939028 | SLC12A3 | c.2179-38T>A (n.2179-38T>A) c.2176-38T>A (n.2176-38T>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56887887T= | CA2224358034 | SLC12A3 | c.2179-38T= (n.2179-38T=) c.2176-38T= (n.2176-38T=) | |
16 | g.56887888C>A | CA2633375819 | SLC12A3 | c.2179-37C>A (n.2179-37C>A) c.2176-37C>A (n.2176-37C>A) | gnomAD v4 |
16 | g.56887889T>C | CA2576001984 | SLC12A3 | c.2179-36T>C (n.2179-36T>C) c.2176-36T>C (n.2176-36T>C) | gnomAD v4 |
16 | g.56887890G>A | CA8069776 | SLC12A3 | c.2179-35G>A (n.2179-35G>A) c.2176-35G>A (n.2176-35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887890G>C | CA622339006 | SLC12A3 | c.2179-35G>C (n.2179-35G>C) c.2176-35G>C (n.2176-35G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56887890G= | CA2224358035 | SLC12A3 | c.2179-35G= (n.2179-35G=) c.2176-35G= (n.2176-35G=) | |
16 | g.56887890G>T | CA2633375821 | SLC12A3 | c.2179-35G>T (n.2179-35G>T) c.2176-35G>T (n.2176-35G>T) | gnomAD v4 |
16 | g.56887891A>G | CA2576001986 | SLC12A3 | c.2179-34A>G (n.2179-34A>G) c.2176-34A>G (n.2176-34A>G) | gnomAD v4 |
16 | g.56887891A>T | CA2633375822 | SLC12A3 | c.2179-34A>T (n.2179-34A>T) c.2176-34A>T (n.2176-34A>T) | gnomAD v4 |
16 | g.56887895del | CA2633375823 | SLC12A3 | c.2179-30del (n.2179-30del) c.2176-30del (n.2176-30del) | gnomAD v4 |
16 | g.56887894G>A | CA2224358037 | SLC12A3 | c.2179-31G>A (n.2179-31G>A) c.2176-31G>A (n.2176-31G>A) | dbSNP |
16 | g.56887894G= | CA2224358036 | SLC12A3 | c.2179-31G= (n.2179-31G=) c.2176-31G= (n.2176-31G=) | |
16 | g.56887895G>A | CA2633375825 | SLC12A3 | c.2179-30G>A (n.2179-30G>A) c.2176-30G>A (n.2176-30G>A) | gnomAD v4 |
16 | g.56887895G>C | CA2576001987 | SLC12A3 | c.2179-30G>C (n.2179-30G>C) c.2176-30G>C (n.2176-30G>C) | |
16 | g.56887896T>C | CA2576001989 | SLC12A3 | c.2179-29T>C (n.2179-29T>C) c.2176-29T>C (n.2176-29T>C) | gnomAD v4 |
16 | g.56887896T>G | CA2807160551 | SLC12A3 | c.2179-29T>G (n.2179-29T>G) c.2176-29T>G (n.2176-29T>G) | |
16 | g.56887898C= | CA2224358038 | SLC12A3 | c.2179-27C= (n.2179-27C=) c.2176-27C= (n.2176-27C=) | |
16 | g.56887898C>T | CA8069777 | SLC12A3 | c.2179-27C>T (n.2179-27C>T) c.2176-27C>T (n.2176-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887899C>A | CA2224358040 | SLC12A3 | c.2179-26C>A (n.2179-26C>A) c.2176-26C>A (n.2176-26C>A) | dbSNP gnomAD v4 |
16 | g.56887899C= | CA2224358039 | SLC12A3 | c.2179-26C= (n.2179-26C=) c.2176-26C= (n.2176-26C=) | |
16 | g.56887900C>A | CA2633375827 | SLC12A3 | c.2179-25C>A (n.2179-25C>A) c.2176-25C>A (n.2176-25C>A) | gnomAD v4 |
16 | g.56887900C= | CA2224358041 | SLC12A3 | c.2179-25C= (n.2179-25C=) c.2176-25C= (n.2176-25C=) | |
16 | g.56887900C>G | CA8069778 | SLC12A3 | c.2179-25C>G (n.2179-25C>G) c.2176-25C>G (n.2176-25C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56887900C>T | CA2224358042 | SLC12A3 | c.2179-25C>T (n.2179-25C>T) c.2176-25C>T (n.2176-25C>T) | dbSNP |
16 | g.56887901C>A | CA2633375831 | SLC12A3 | c.2179-24C>A (n.2179-24C>A) c.2176-24C>A (n.2176-24C>A) | gnomAD v4 |
16 | g.56887901C= | CA2224358043 | SLC12A3 | c.2179-24C= (n.2179-24C=) c.2176-24C= (n.2176-24C=) | |
16 | g.56887901C>T | CA8069779 | SLC12A3 | c.2179-24C>T (n.2179-24C>T) c.2176-24C>T (n.2176-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56887902A= | CA2224358044 | SLC12A3 | c.2179-23A= (n.2179-23A=) c.2176-23A= (n.2176-23A=) | |
16 | g.56887902A>C | CA622339007 | SLC12A3 | c.2179-23A>C (n.2179-23A>C) c.2176-23A>C (n.2176-23A>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56887902A>G | CA2633375833 | SLC12A3 | c.2179-23A>G (n.2179-23A>G) c.2176-23A>G (n.2176-23A>G) | gnomAD v4 |
16 | g.56887902A>T | CA2633375834 | SLC12A3 | c.2179-23A>T (n.2179-23A>T) c.2176-23A>T (n.2176-23A>T) | gnomAD v4 |
16 | g.56887902dup | CA2633375832 | SLC12A3 | c.2179-23dup (n.2179-23dup) c.2176-23dup (n.2176-23dup) | gnomAD v4 |
16 | g.56887903T>C | CA2633375835 | SLC12A3 | c.2179-22T>C (n.2179-22T>C) c.2176-22T>C (n.2176-22T>C) | gnomAD v4 |
16 | g.56887904C>A | CA2633375836 | SLC12A3 | c.2179-21C>A (n.2179-21C>A) c.2176-21C>A (n.2176-21C>A) | gnomAD v4 |
16 | g.56887907_56887908del | CA2576001994 | SLC12A3 | c.2179-18_2179-17del (n.2179-18_2179-17del) c.2176-18_2176-17del (n.2176-18_2176-17del) | |
16 | g.56887907A>G | CA2633375837 | SLC12A3 | c.2179-18A>G (n.2179-18A>G) c.2176-18A>G (n.2176-18A>G) | gnomAD v4 |
16 | g.56887908C>A | CA721939040 | SLC12A3 | c.2179-17C>A (n.2179-17C>A) c.2176-17C>A (n.2176-17C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56887908C= | CA2224358045 | SLC12A3 | c.2179-17C= (n.2179-17C=) c.2176-17C= (n.2176-17C=) | |
16 | g.56887911del | CA2633375839 | SLC12A3 | c.2179-14del (n.2179-14del) c.2176-14del (n.2176-14del) | gnomAD v4 |
16 | g.56887911_56887918del | CA2573152372 | SLC12A3 | c.2179-14_2179-7del (n.2179-14_2179-7del) c.2176-14_2176-7del (n.2176-14_2176-7del) | ClinVar dbSNP |
16 | g.56887909C= | CA2224358046 | SLC12A3 | c.2179-16C= (n.2179-16C=) c.2176-16C= (n.2176-16C=) | |
16 | g.56887909C>G | CA2633375840 | SLC12A3 | c.2179-16C>G (n.2179-16C>G) c.2176-16C>G (n.2176-16C>G) | gnomAD v4 |
16 | g.56887909C>T | CA622339009 | SLC12A3 | c.2179-16C>T (n.2179-16C>T) c.2176-16C>T (n.2176-16C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56887910C>A | CA2633375841 | SLC12A3 | c.2179-15C>A (n.2179-15C>A) c.2176-15C>A (n.2176-15C>A) | gnomAD v4 |
16 | g.56887910C= | CA2224358047 | SLC12A3 | c.2179-15C= (n.2179-15C=) c.2176-15C= (n.2176-15C=) | |
16 | g.56887910C>T | CA622339010 | SLC12A3 | c.2179-15C>T (n.2179-15C>T) c.2176-15C>T (n.2176-15C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56887911C>A | CA2633375842 | SLC12A3 | c.2179-14C>A (n.2179-14C>A) c.2176-14C>A (n.2176-14C>A) | gnomAD v4 |
16 | g.56887911_56887912delinsCT | CA2224358048 | SLC12A3 | c.2179-14_2179-13delinsCT (n.2179-14_2179-13delinsCT) c.2176-14_2176-13delinsCT (n.2176-14_2176-13delinsCT) | |
16 | g.56887912del | CA8069780 | SLC12A3 | c.2179-13del (n.2179-13del) c.2176-13del (n.2176-13del) | ClinVar dbSNP ExAC gnomAD v4 |
16 | g.56887912T>C | CA8069781 | SLC12A3 | c.2179-13T>C (n.2179-13T>C) c.2176-13T>C (n.2176-13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56887912T= | CA2224358049 | SLC12A3 | c.2179-13T= (n.2179-13T=) c.2176-13T= (n.2176-13T=) | |
16 | g.56887913A= | CA2224358050 | SLC12A3 | c.2179-12A= (n.2179-12A=) c.2176-12A= (n.2176-12A=) | |
16 | g.56887913A>G | CA2224358051 | SLC12A3 | c.2179-12A>G (n.2179-12A>G) c.2176-12A>G (n.2176-12A>G) | dbSNP gnomAD v4 |
16 | g.56887915C>A | CA2633375845 | SLC12A3 | c.2179-10C>A (n.2179-10C>A) c.2176-10C>A (n.2176-10C>A) | gnomAD v4 |
16 | g.56887915C= | CA2224358052 | SLC12A3 | c.2179-10C= (n.2179-10C=) c.2176-10C= (n.2176-10C=) | |
16 | g.56887915C>G | CA622339011 | SLC12A3 | c.2179-10C>G (n.2179-10C>G) c.2176-10C>G (n.2176-10C>G) | dbSNP gnomAD v2 |
16 | g.56887918dup | CA2633375844 | SLC12A3 | c.2179-7dup (n.2179-7dup) c.2176-7dup (n.2176-7dup) | gnomAD v4 |
16 | g.56887918del | CA2580091687 | SLC12A3 | c.2179-7del (n.2179-7del) c.2176-7del (n.2176-7del) | ClinVar |
16 | g.56887917C>A | CA2581264030 | SLC12A3 | c.2179-8C>A (n.2179-8C>A) c.2176-8C>A (n.2176-8C>A) | |
16 | g.56887917C= | CA2224358053 | SLC12A3 | c.2179-8C= (n.2179-8C=) c.2176-8C= (n.2176-8C=) | |
16 | g.56887917C>G | CA2581264031 | SLC12A3 | c.2179-8C>G (n.2179-8C>G) c.2176-8C>G (n.2176-8C>G) | |
16 | g.56887917C>T | CA8069782 | SLC12A3 | c.2179-8C>T (n.2179-8C>T) c.2176-8C>T (n.2176-8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887918C= | CA2224358054 | SLC12A3 | c.2179-7C= (n.2179-7C=) c.2176-7C= (n.2176-7C=) | |
16 | g.56887918C>G | CA2633375850 | SLC12A3 | c.2179-7C>G (n.2179-7C>G) c.2176-7C>G (n.2176-7C>G) | gnomAD v4 |
16 | g.56887918C>T | CA622339013 | SLC12A3 | c.2179-7C>T (n.2179-7C>T) c.2176-7C>T (n.2176-7C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887918_56887919insATCTCACCCCTA | CA2224358055 | SLC12A3 | c.2179-7_2179-6insATCTCACCCCTA (n.2179-7_2179-6insATCTCACCCCTA) c.2176-7_2176-6insATCTCACCCCTA (n.2176-7_2176-6insATCTCACCCCTA) | dbSNP |
16 | g.56887919T>C | CA2633375854 | SLC12A3 | c.2179-6T>C (n.2179-6T>C) c.2176-6T>C (n.2176-6T>C) | gnomAD v4 |
16 | g.56887920G>A | CA2633375856 | SLC12A3 | c.2179-5G>A (n.2179-5G>A) c.2176-5G>A (n.2176-5G>A) | gnomAD v4 |
16 | g.56887920G>C | CA622339014 | SLC12A3 | c.2179-5G>C (n.2179-5G>C) c.2176-5G>C (n.2176-5G>C) | dbSNP gnomAD v2 |
16 | g.56887920G= | CA2224358056 | SLC12A3 | c.2179-5G= (n.2179-5G=) c.2176-5G= (n.2176-5G=) | |
16 | g.56887921G>A | CA2633375858 | SLC12A3 | c.2179-4G>A (n.2179-4G>A) c.2176-4G>A (n.2176-4G>A) | gnomAD v4 |
16 | g.56887921G>C | CA2224358058 | SLC12A3 | c.2179-4G>C (n.2179-4G>C) c.2176-4G>C (n.2176-4G>C) | dbSNP |
16 | g.56887921G= | CA2224358057 | SLC12A3 | c.2179-4G= (n.2179-4G=) c.2176-4G= (n.2176-4G=) | |
16 | g.56887922C= | CA2224358059 | SLC12A3 | c.2179-3C= (n.2179-3C=) c.2176-3C= (n.2176-3C=) | |
16 | g.56887922C>T | CA8069783 | SLC12A3 | c.2179-3C>T (n.2179-3C>T) c.2176-3C>T (n.2176-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887922_56887923insG | CA2224358060 | SLC12A3 | c.2179-3_2179-2insG (n.2179-3_2179-2insG) c.2176-3_2176-2insG (n.2176-3_2176-2insG) | dbSNP |
16 | g.56887923A>C | CA395994517 | SLC12A3 | c.2179-2A>C (n.2179-2A>C) c.2176-2A>C (n.2176-2A>C) | |
16 | g.56887923A>G | CA395994516 | SLC12A3 | c.2179-2A>G (n.2179-2A>G) c.2176-2A>G (n.2176-2A>G) | gnomAD v4 |
16 | g.56887923A>T | CA395994514 | SLC12A3 | c.2179-2A>T (n.2179-2A>T) c.2176-2A>T (n.2176-2A>T) | |
16 | g.56887924G>A | CA395994519 | SLC12A3 | c.2179-1G>A (n.2179-1G>A) c.2176-1G>A (n.2176-1G>A) | COSMIC |
16 | g.56887924G>C | CA395994524 | SLC12A3 | c.2179-1G>C (n.2179-1G>C) c.2176-1G>C (n.2176-1G>C) | gnomAD v4 |
16 | g.56887924G>T | CA395994521 | SLC12A3 | c.2179-1G>T (n.2179-1G>T) c.2176-1G>T (n.2176-1G>T) | |
16 | g.56887925G>A | CA395994527 | SLC12A3 | c.2179G>A (p.Ala727Thr) c.2176G>A (p.Ala726Thr) | |
16 | g.56887925G>C | CA395994529 | SLC12A3 | c.2179G>C (p.Ala727Pro) c.2176G>C (p.Ala726Pro) | |
16 | g.56887925G= | CA2224358061 | SLC12A3 | c.2179G= (p.Ala727=) c.2176G= (p.Ala726=) | |
16 | g.56887925G>T | CA8069784 | SLC12A3 | c.2179G>T (p.Ala727Ser) c.2176G>T (p.Ala726Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887926C>A | CA395994532 | SLC12A3 | c.2180C>A (p.Ala727Asp) c.2177C>A (p.Ala726Asp) | gnomAD v4 |
16 | g.56887926C>G | CA395994534 | SLC12A3 | c.2180C>G (p.Ala727Gly) c.2177C>G (p.Ala726Gly) | |
16 | g.56887926C>T | CA395994536 | SLC12A3 | c.2180C>T (p.Ala727Val) c.2177C>T (p.Ala726Val) | |
16 | g.56887927C>A | CA495607354 | SLC12A3 | c.2181C>A (p.Ala727=) c.2178C>A (p.Ala726=) | |
16 | g.56887927C= | CA2224358062 | SLC12A3 | c.2181C= (p.Ala727=) c.2178C= (p.Ala726=) | |
16 | g.56887927C>G | CA495607364 | SLC12A3 | c.2181C>G (p.Ala727=) c.2178C>G (p.Ala726=) | |
16 | g.56887927C>T | CA8069785 | SLC12A3 | c.2181C>T (p.Ala727=) c.2178C>T (p.Ala726=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56887928G>A | CA8069786 | SLC12A3 | c.2182G>A (p.Ala728Thr) c.2179G>A (p.Ala727Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887928G>C | CA395994539 | SLC12A3 | c.2182G>C (p.Ala728Pro) c.2179G>C (p.Ala727Pro) | |
16 | g.56887928G= | CA2224358063 | SLC12A3 | c.2182G= (p.Ala728=) c.2179G= (p.Ala727=) | |
16 | g.56887928G>T | CA395994541 | SLC12A3 | c.2182G>T (p.Ala728Ser) c.2179G>T (p.Ala727Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56887929C>A | CA395994543 | SLC12A3 | c.2183C>A (p.Ala728Glu) c.2180C>A (p.Ala727Glu) | |
16 | g.56887929C= | CA2224358064 | SLC12A3 | c.2183C= (p.Ala728=) c.2180C= (p.Ala727=) | |
16 | g.56887929C>G | CA395994546 | SLC12A3 | c.2183C>G (p.Ala728Gly) c.2180C>G (p.Ala727Gly) | |
16 | g.56887929C>T | CA8069787 | SLC12A3 | c.2183C>T (p.Ala728Val) c.2180C>T (p.Ala727Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56887930A>C | CA495607390 | SLC12A3 | c.2184A>C (p.Ala728=) c.2181A>C (p.Ala727=) | |
16 | g.56887930A>G | CA495607394 | SLC12A3 | c.2184A>G (p.Ala728=) c.2181A>G (p.Ala727=) | gnomAD v4 |
16 | g.56887930A>T | CA495607392 | SLC12A3 | c.2184A>T (p.Ala728=) c.2181A>T (p.Ala727=) | gnomAD v4 |
16 | g.56887931G>A | CA395994548 | SLC12A3 | c.2185G>A (p.Gly729Ser) c.2182G>A (p.Gly728Ser) | |
16 | g.56887931G>C | CA395994552 | SLC12A3 | c.2185G>C (p.Gly729Arg) c.2182G>C (p.Gly728Arg) | |
16 | g.56887931G>T | CA395994551 | SLC12A3 | c.2185G>T (p.Gly729Cys) c.2182G>T (p.Gly728Cys) | COSMIC |
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) |