Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56885987_56887036del | CA915949274 | SLC12A3 | c.1926-377_2121del c.1923-377_2118del | ClinVar |
16 | g.56886327_56886328del | CA977647214 | SLC12A3 | c.1926-37_1926-36del (n.1926-37_1926-36del) c.1923-37_1923-36del (n.1923-37_1923-36del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886324C>A | CA2576001772 | SLC12A3 | c.1926-40C>A (n.1926-40C>A) c.1923-40C>A (n.1923-40C>A) | gnomAD v4 |
16 | g.56886324C>G | CA2633374448 | SLC12A3 | c.1926-40C>G (n.1926-40C>G) c.1923-40C>G (n.1923-40C>G) | gnomAD v4 |
16 | g.56886324C>T | CA2633374449 | SLC12A3 | c.1926-40C>T (n.1926-40C>T) c.1923-40C>T (n.1923-40C>T) | gnomAD v4 |
16 | g.56886326C>T | CA2633374450 | SLC12A3 | c.1926-38C>T (n.1926-38C>T) c.1923-38C>T (n.1923-38C>T) | gnomAD v4 |
16 | g.56886328C>A | CA2633374451 | SLC12A3 | c.1926-36C>A (n.1926-36C>A) c.1923-36C>A (n.1923-36C>A) | gnomAD v4 |
16 | g.56886328C= | CA2224357168 | SLC12A3 | c.1926-36C= (n.1926-36C=) c.1923-36C= (n.1923-36C=) | |
16 | g.56886328C>G | CA977647221 | SLC12A3 | c.1926-36C>G (n.1926-36C>G) c.1923-36C>G (n.1923-36C>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886328C>T | CA8069658 | SLC12A3 | c.1926-36C>T (n.1926-36C>T) c.1923-36C>T (n.1923-36C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886329C>A | CA2633374452 | SLC12A3 | c.1926-35C>A (n.1926-35C>A) c.1923-35C>A (n.1923-35C>A) | gnomAD v4 |
16 | g.56886331G>A | CA721937128 | SLC12A3 | c.1926-33G>A (n.1926-33G>A) c.1923-33G>A (n.1923-33G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886331G>C | CA2633374453 | SLC12A3 | c.1926-33G>C (n.1926-33G>C) c.1923-33G>C (n.1923-33G>C) | gnomAD v4 |
16 | g.56886331G= | CA2224357169 | SLC12A3 | c.1926-33G= (n.1926-33G=) c.1923-33G= (n.1923-33G=) | |
16 | g.56886333T>C | CA2633374454 | SLC12A3 | c.1926-31T>C (n.1926-31T>C) c.1923-31T>C (n.1923-31T>C) | gnomAD v4 |
16 | g.56886333_56886334delinsTG | CA2224357170 | SLC12A3 | c.1926-31_1926-30delinsTG (n.1926-31_1926-30delinsTG) c.1923-31_1923-30delinsTG (n.1923-31_1923-30delinsTG) | |
16 | g.56886334G>A | CA622338381 | SLC12A3 | c.1926-30G>A (n.1926-30G>A) c.1923-30G>A (n.1923-30G>A) | dbSNP gnomAD v2 |
16 | g.56886334G= | CA2224357171 | SLC12A3 | c.1926-30G= (n.1926-30G=) c.1923-30G= (n.1923-30G=) | |
16 | g.56886334G>T | CA2633374455 | SLC12A3 | c.1926-30G>T (n.1926-30G>T) c.1923-30G>T (n.1923-30G>T) | gnomAD v4 |
16 | g.56886335del | CA721937132 | SLC12A3 | c.1926-29del (n.1926-29del) c.1923-29del (n.1923-29del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886335G>A | CA8069660 | SLC12A3 | c.1926-29G>A (n.1926-29G>A) c.1923-29G>A (n.1923-29G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886335G= | CA2224357172 | SLC12A3 | c.1926-29G= (n.1926-29G=) c.1923-29G= (n.1923-29G=) | |
16 | g.56886335G>T | CA8069659 | SLC12A3 | c.1926-29G>T (n.1926-29G>T) c.1923-29G>T (n.1923-29G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886336C>A | CA8069661 | SLC12A3 | c.1926-28C>A (n.1926-28C>A) c.1923-28C>A (n.1923-28C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886336C= | CA2224357173 | SLC12A3 | c.1926-28C= (n.1926-28C=) c.1923-28C= (n.1923-28C=) | |
16 | g.56886336C>T | CA622338383 | SLC12A3 | c.1926-28C>T (n.1926-28C>T) c.1923-28C>T (n.1923-28C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886338C>A | CA2633374457 | SLC12A3 | c.1926-26C>A (n.1926-26C>A) c.1923-26C>A (n.1923-26C>A) | gnomAD v4 |
16 | g.56886338C= | CA2224357174 | SLC12A3 | c.1926-26C= (n.1926-26C=) c.1923-26C= (n.1923-26C=) | |
16 | g.56886338C>G | CA2224357175 | SLC12A3 | c.1926-26C>G (n.1926-26C>G) c.1923-26C>G (n.1923-26C>G) | dbSNP |
16 | g.56886339del | CA2633374456 | SLC12A3 | c.1926-25del (n.1926-25del) c.1923-25del (n.1923-25del) | gnomAD v4 |
16 | g.56886339C>A | CA2633374458 | SLC12A3 | c.1926-25C>A (n.1926-25C>A) c.1923-25C>A (n.1923-25C>A) | gnomAD v4 |
16 | g.56886341G>A | CA2633374459 | SLC12A3 | c.1926-23G>A (n.1926-23G>A) c.1923-23G>A (n.1923-23G>A) | gnomAD v4 |
16 | g.56886341G>T | CA2633374460 | SLC12A3 | c.1926-23G>T (n.1926-23G>T) c.1923-23G>T (n.1923-23G>T) | gnomAD v4 |
16 | g.56886342C>A | CA2633374462 | SLC12A3 | c.1926-22C>A (n.1926-22C>A) c.1923-22C>A (n.1923-22C>A) | gnomAD v4 |
16 | g.56886342C= | CA2224357176 | SLC12A3 | c.1926-22C= (n.1926-22C=) c.1923-22C= (n.1923-22C=) | |
16 | g.56886342C>T | CA8069662 | SLC12A3 | c.1926-22C>T (n.1926-22C>T) c.1923-22C>T (n.1923-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56886344del | CA2633374461 | SLC12A3 | c.1926-20del (n.1926-20del) c.1923-20del (n.1923-20del) | gnomAD v4 |
16 | g.56886343C>A | CA2633374463 | SLC12A3 | c.1926-21C>A (n.1926-21C>A) c.1923-21C>A (n.1923-21C>A) | gnomAD v4 |
16 | g.56886343C>T | CA2576001773 | SLC12A3 | c.1926-21C>T (n.1926-21C>T) c.1923-21C>T (n.1923-21C>T) | |
16 | g.56886344C>A | CA2633374464 | SLC12A3 | c.1926-20C>A (n.1926-20C>A) c.1923-20C>A (n.1923-20C>A) | gnomAD v4 |
16 | g.56886344C>G | CA2739266779 | SLC12A3 | c.1926-20C>G (n.1926-20C>G) c.1923-20C>G (n.1923-20C>G) | ClinVar |
16 | g.56886345T>C | CA2633374465 | SLC12A3 | c.1926-19T>C (n.1926-19T>C) c.1923-19T>C (n.1923-19T>C) | gnomAD v4 |
16 | g.56886348del | CA2633374466 | SLC12A3 | c.1926-16del (n.1926-16del) c.1923-16del (n.1923-16del) | gnomAD v4 |
16 | g.56886348T>C | CA2633374467 | SLC12A3 | c.1926-16T>C (n.1926-16T>C) c.1923-16T>C (n.1923-16T>C) | gnomAD v4 |
16 | g.56886349C= | CA2224357177 | SLC12A3 | c.1926-15C= (n.1926-15C=) c.1923-15C= (n.1923-15C=) | |
16 | g.56886349C>G | CA622338384 | SLC12A3 | c.1926-15C>G (n.1926-15C>G) c.1923-15C>G (n.1923-15C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886349C>T | CA2633374468 | SLC12A3 | c.1926-15C>T (n.1926-15C>T) c.1923-15C>T (n.1923-15C>T) | gnomAD v4 |
16 | g.56886350C>A | CA2576001774 | SLC12A3 | c.1926-14C>A (n.1926-14C>A) c.1923-14C>A (n.1923-14C>A) | |
16 | g.56886350C>T | CA2633374469 | SLC12A3 | c.1926-14C>T (n.1926-14C>T) c.1923-14C>T (n.1923-14C>T) | gnomAD v4 |
16 | g.56886351C>A | CA2633374470 | SLC12A3 | c.1926-13C>A (n.1926-13C>A) c.1923-13C>A (n.1923-13C>A) | gnomAD v4 |
16 | g.56886351C= | CA2224357178 | SLC12A3 | c.1926-13C= (n.1926-13C=) c.1923-13C= (n.1923-13C=) | |
16 | g.56886351C>G | CA622338386 | SLC12A3 | c.1926-13C>G (n.1926-13C>G) c.1923-13C>G (n.1923-13C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886351C>T | CA2633374471 | SLC12A3 | c.1926-13C>T (n.1926-13C>T) c.1923-13C>T (n.1923-13C>T) | ClinVar gnomAD v4 |
16 | g.56886352T>G | CA2807160496 | SLC12A3 | c.1926-12T>G (n.1926-12T>G) c.1923-12T>G (n.1923-12T>G) | |
16 | g.56886353T>G | CA2633374472 | SLC12A3 | c.1926-11T>G (n.1926-11T>G) c.1923-11T>G (n.1923-11T>G) | gnomAD v4 |
16 | g.56886353T= | CA2224357179 | SLC12A3 | c.1926-11T= (n.1926-11T=) c.1923-11T= (n.1923-11T=) | |
16 | g.56886354C>A | CA2633374473 | SLC12A3 | c.1926-10C>A (n.1926-10C>A) c.1923-10C>A (n.1923-10C>A) | gnomAD v4 |
16 | g.56886354C= | CA2224357181 | SLC12A3 | c.1926-10C= (n.1926-10C=) c.1923-10C= (n.1923-10C=) | |
16 | g.56886354C>G | CA8069663 | SLC12A3 | c.1926-10C>G (n.1926-10C>G) c.1923-10C>G (n.1923-10C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886356dup | CA2224357180 | SLC12A3 | c.1926-8dup (n.1926-8dup) c.1923-8dup (n.1923-8dup) | dbSNP |
16 | g.56886355C>A | CA2633374474 | SLC12A3 | c.1926-9C>A (n.1926-9C>A) c.1923-9C>A (n.1923-9C>A) | gnomAD v4 |
16 | g.56886355C>T | CA2633374475 | SLC12A3 | c.1926-9C>T (n.1926-9C>T) c.1923-9C>T (n.1923-9C>T) | gnomAD v4 |
16 | g.56886359_56886361del | CA2580613877 | SLC12A3 | c.1926-5_1926-3del (n.1926-5_1926-3del) c.1923-5_1923-3del (n.1923-5_1923-3del) | ClinVar |
16 | g.56886356C>A | CA2633374477 | SLC12A3 | c.1926-8C>A (n.1926-8C>A) c.1923-8C>A (n.1923-8C>A) | gnomAD v4 |
16 | g.56886356C>G | CA2499223599 | SLC12A3 | c.1926-8C>G (n.1926-8C>G) c.1923-8C>G (n.1923-8C>G) | ClinVar dbSNP gnomAD v4 |
16 | g.56886356C>T | CA2633374476 | SLC12A3 | c.1926-8C>T (n.1926-8C>T) c.1923-8C>T (n.1923-8C>T) | ClinVar gnomAD v4 |
16 | g.56886359C>A | CA2633374478 | SLC12A3 | c.1926-5C>A (n.1926-5C>A) c.1923-5C>A (n.1923-5C>A) | gnomAD v4 |
16 | g.56886359C= | CA2224357182 | SLC12A3 | c.1926-5C= (n.1926-5C=) c.1923-5C= (n.1923-5C=) | |
16 | g.56886359C>T | CA622338388 | SLC12A3 | c.1926-5C>T (n.1926-5C>T) c.1923-5C>T (n.1923-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886360T= | CA2224357183 | SLC12A3 | c.1926-4T= (n.1926-4T=) c.1923-4T= (n.1923-4T=) | |
16 | g.56886361C>A | CA2633374479 | SLC12A3 | c.1926-3C>A (n.1926-3C>A) c.1923-3C>A (n.1923-3C>A) | gnomAD v4 |
16 | g.56886362_56886367dup | CA8069664 | SLC12A3 | c.1926-2_1929dup c.1923-2_1926dup | ClinVar dbSNP ExAC gnomAD v4 |
16 | g.56886362A>C | CA395992758 | SLC12A3 | c.1926-2A>C (n.1926-2A>C) c.1923-2A>C (n.1923-2A>C) | |
16 | g.56886362A>G | CA395992760 | SLC12A3 | c.1926-2A>G (n.1926-2A>G) c.1923-2A>G (n.1923-2A>G) | |
16 | g.56886362A>T | CA395992763 | SLC12A3 | c.1926-2A>T (n.1926-2A>T) c.1923-2A>T (n.1923-2A>T) | |
16 | g.56886363G>A | CA395992765 | SLC12A3 | c.1926-1G>A (n.1926-1G>A) c.1923-1G>A (n.1923-1G>A) | |
16 | g.56886363G>C | CA395992768 | SLC12A3 | c.1926-1G>C (n.1926-1G>C) c.1923-1G>C (n.1923-1G>C) | |
16 | g.56886363G= | CA2224357184 | SLC12A3 | c.1926-1G= (n.1926-1G=) c.1923-1G= (n.1923-1G=) | |
16 | g.56886363G>T | CA8069666 | SLC12A3 | c.1926-1G>T (n.1926-1G>T) c.1923-1G>T (n.1923-1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886363_56886364delinsGC | CA2224357185 | SLC12A3 | c.1926-1_1926delinsGC c.1923-1_1923delinsGC | |
16 | g.56886364C>A | CA495604855 | SLC12A3 | c.1926C>A (p.Arg642=) c.1923C>A (p.Arg641=) | dbSNP gnomAD v4 |
16 | g.56886364C= | CA2224357186 | SLC12A3 | c.1926C= (p.Arg642=) c.1923C= (p.Arg641=) | |
16 | g.56886364C>G | CA495604856 | SLC12A3 | c.1926C>G (p.Arg642=) c.1923C>G (p.Arg641=) | |
16 | g.56886364C>T | CA495604857 | SLC12A3 | c.1926C>T (p.Arg642=) c.1923C>T (p.Arg641=) | gnomAD v4 |
16 | g.56886368del | CA8069665 | SLC12A3 | c.1930del (p.Gln644SerfsTer28) c.1927del (p.Gln643SerfsTer28) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886364_56886365insT | CA2807160497 | SLC12A3 | c.1926_1927insT (p.Pro643SerfsTer?) c.1923_1924insT (p.Pro642SerfsTer?) | |
16 | g.56886365C>A | CA395992772 | SLC12A3 | c.1927C>A (p.Pro643Thr) c.1924C>A (p.Pro642Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886365C= | CA2224357187 | SLC12A3 | c.1927C= (p.Pro643=) c.1924C= (p.Pro642=) | |
16 | g.56886365C>G | CA395992774 | SLC12A3 | c.1927C>G (p.Pro643Ala) c.1924C>G (p.Pro642Ala) | |
16 | g.56886365C>T | CA395992776 | SLC12A3 | c.1927C>T (p.Pro643Ser) c.1924C>T (p.Pro642Ser) | gnomAD v4 |
16 | g.56886365_56886370dup | CA2695223457 | SLC12A3 | c.1927_1932dup (p.Gln644_Cys645insProGln) c.1924_1929dup (p.Gln643_Cys644insProGln) | |
16 | g.56886366C>A | CA395992783 | SLC12A3 | c.1928C>A (p.Pro643His) c.1925C>A (p.Pro642His) | |
16 | g.56886366C= | CA2224357188 | SLC12A3 | c.1928C= (p.Pro643=) c.1925C= (p.Pro642=) | |
16 | g.56886366C>G | CA395992779 | SLC12A3 | c.1928C>G (p.Pro643Arg) c.1925C>G (p.Pro642Arg) | |
16 | g.56886366C>T | CA8069667 | SLC12A3 | c.1928C>T (p.Pro643Leu) c.1925C>T (p.Pro642Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886367C>A | CA495604867 | SLC12A3 | c.1929C>A (p.Pro643=) c.1926C>A (p.Pro642=) | |
16 | g.56886367C= | CA2224357189 | SLC12A3 | c.1929C= (p.Pro643=) c.1926C= (p.Pro642=) | |
16 | g.56886367C>G | CA495604869 | SLC12A3 | c.1929C>G (p.Pro643=) c.1926C>G (p.Pro642=) | |
16 | g.56886367C>T | CA495604871 | SLC12A3 | c.1929C>T (p.Pro643=) c.1926C>T (p.Pro642=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886368C>A | CA395992786 | SLC12A3 | c.1930C>A (p.Gln644Lys) c.1927C>A (p.Gln643Lys) | |
16 | g.56886368C>G | CA395992787 | SLC12A3 | c.1930C>G (p.Gln644Glu) c.1927C>G (p.Gln643Glu) | |
16 | g.56886368C>T | CA395992789 | SLC12A3 | c.1930C>T (p.Gln644Ter) c.1927C>T (p.Gln643Ter) | |
16 | g.56886369A= | CA2224357190 | SLC12A3 | c.1931A= (p.Gln644=) c.1928A= (p.Gln643=) | |
16 | g.56886369A>C | CA395992790 | SLC12A3 | c.1931A>C (p.Gln644Pro) c.1928A>C (p.Gln643Pro) | |
16 | g.56886369A>G | CA395992791 | SLC12A3 | c.1931A>G (p.Gln644Arg) c.1928A>G (p.Gln643Arg) | dbSNP |
16 | g.56886369A>T | CA395992792 | SLC12A3 | c.1931A>T (p.Gln644Leu) c.1928A>T (p.Gln643Leu) | |
16 | g.56886370G>A | CA8069668 | SLC12A3 | c.1932G>A (p.Gln644=) c.1929G>A (p.Gln643=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886370G>C | CA395992793 | SLC12A3 | c.1932G>C (p.Gln644His) c.1929G>C (p.Gln643His) | |
16 | g.56886370G= | CA2224357191 | SLC12A3 | c.1932G= (p.Gln644=) c.1929G= (p.Gln643=) | |
16 | g.56886370G>T | CA395992794 | SLC12A3 | c.1932G>T (p.Gln644His) c.1929G>T (p.Gln643His) | |
16 | g.56886371T>A | CA395992795 | SLC12A3 | c.1933T>A (p.Cys645Ser) c.1930T>A (p.Cys644Ser) | |
16 | g.56886371T>C | CA395992796 | SLC12A3 | c.1933T>C (p.Cys645Arg) c.1930T>C (p.Cys644Arg) | gnomAD v4 |
16 | g.56886371T>G | CA395992797 | SLC12A3 | c.1933T>G (p.Cys645Gly) c.1930T>G (p.Cys644Gly) | |
16 | g.56886372G>A | CA395992800 | SLC12A3 | c.1934G>A (p.Cys645Tyr) c.1931G>A (p.Cys644Tyr) | COSMIC |
16 | g.56886372G>C | CA395992799 | SLC12A3 | c.1934G>C (p.Cys645Ser) c.1931G>C (p.Cys644Ser) | |
16 | g.56886372G>T | CA395992798 | SLC12A3 | c.1934G>T (p.Cys645Phe) c.1931G>T (p.Cys644Phe) | |
16 | g.56886373C>A | CA395992802 | SLC12A3 | c.1935C>A (p.Cys645Ter) c.1932C>A (p.Cys644Ter) | |
16 | g.56886373C= | CA2224357192 | SLC12A3 | c.1935C= (p.Cys645=) c.1932C= (p.Cys644=) | |
16 | g.56886373C>G | CA395992801 | SLC12A3 | c.1935C>G (p.Cys645Trp) c.1932C>G (p.Cys644Trp) | |
16 | g.56886373C>T | CA495604885 | SLC12A3 | c.1935C>T (p.Cys645=) c.1932C>T (p.Cys644=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886374C>A | CA395992803 | SLC12A3 | c.1936C>A (p.Leu646Met) c.1933C>A (p.Leu645Met) | |
16 | g.56886374C>G | CA395992804 | SLC12A3 | c.1936C>G (p.Leu646Val) c.1933C>G (p.Leu645Val) | |
16 | g.56886374C>T | CA495604891 | SLC12A3 | c.1936C>T (p.Leu646=) c.1933C>T (p.Leu645=) | ClinVar |
16 | g.56886375T>A | CA395992805 | SLC12A3 | c.1937T>A (p.Leu646Gln) c.1934T>A (p.Leu645Gln) | |
16 | g.56886375T>C | CA395992807 | SLC12A3 | c.1937T>C (p.Leu646Pro) c.1934T>C (p.Leu645Pro) | |
16 | g.56886375T>G | CA395992810 | SLC12A3 | c.1937T>G (p.Leu646Arg) c.1934T>G (p.Leu645Arg) | |
16 | g.56886375_56886376delinsTG | CA2224357193 | SLC12A3 | c.1937_1938delinsTG (p.Leu646=) c.1934_1935delinsTG (p.Leu645=) | |
16 | g.56886376G>A | CA495604900 | SLC12A3 | c.1938G>A (p.Leu646=) c.1935G>A (p.Leu645=) | |
16 | g.56886376G>C | CA495604898 | SLC12A3 | c.1938G>C (p.Leu646=) c.1935G>C (p.Leu645=) | |
16 | g.56886376G>T | CA495604897 | SLC12A3 | c.1938G>T (p.Leu646=) c.1935G>T (p.Leu645=) | |
16 | g.56886377del | CA721937193 | SLC12A3 | c.1939del (p.Val647CysfsTer25) c.1936del (p.Val646CysfsTer25) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886377G>A | CA395992812 | SLC12A3 | c.1939G>A (p.Val647Met) c.1936G>A (p.Val646Met) | |
16 | g.56886377G>C | CA395992814 | SLC12A3 | c.1939G>C (p.Val647Leu) c.1936G>C (p.Val646Leu) | |
16 | g.56886377G>T | CA395992815 | SLC12A3 | c.1939G>T (p.Val647Leu) c.1936G>T (p.Val646Leu) | |
16 | g.56886378T>A | CA395992816 | SLC12A3 | c.1940T>A (p.Val647Glu) c.1937T>A (p.Val646Glu) | |
16 | g.56886378T>C | CA395992817 | SLC12A3 | c.1940T>C (p.Val647Ala) c.1937T>C (p.Val646Ala) | |
16 | g.56886378T>G | CA395992818 | SLC12A3 | c.1940T>G (p.Val647Gly) c.1937T>G (p.Val646Gly) | |
16 | g.56886379G>A | CA495604906 | SLC12A3 | c.1941G>A (p.Val647=) c.1938G>A (p.Val646=) | |
16 | g.56886379G>C | CA495604910 | SLC12A3 | c.1941G>C (p.Val647=) c.1938G>C (p.Val646=) | |
16 | g.56886379G>T | CA495604907 | SLC12A3 | c.1941G>T (p.Val647=) c.1938G>T (p.Val646=) | |
16 | g.56886380C>A | CA395992822 | SLC12A3 | c.1942C>A (p.Leu648Ile) c.1939C>A (p.Leu647Ile) | gnomAD v4 |
16 | g.56886380C= | CA2224357194 | SLC12A3 | c.1942C= (p.Leu648=) c.1939C= (p.Leu647=) | |
16 | g.56886380C>G | CA395992824 | SLC12A3 | c.1942C>G (p.Leu648Val) c.1939C>G (p.Leu647Val) | |
16 | g.56886380C>T | CA395992820 | SLC12A3 | c.1942C>T (p.Leu648Phe) c.1939C>T (p.Leu647Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56886381T>A | CA395992826 | SLC12A3 | c.1943T>A (p.Leu648His) c.1940T>A (p.Leu647His) | |
16 | g.56886381T>C | CA395992829 | SLC12A3 | c.1943T>C (p.Leu648Pro) c.1940T>C (p.Leu647Pro) | |
16 | g.56886381T>G | CA395992831 | SLC12A3 | c.1943T>G (p.Leu648Arg) c.1940T>G (p.Leu647Arg) | |
16 | g.56886382C>A | CA495604918 | SLC12A3 | c.1944C>A (p.Leu648=) c.1941C>A (p.Leu647=) | |
16 | g.56886382C= | CA2224357195 | SLC12A3 | c.1944C= (p.Leu648=) c.1941C= (p.Leu647=) | |
16 | g.56886382C>G | CA495604919 | SLC12A3 | c.1944C>G (p.Leu648=) c.1941C>G (p.Leu647=) | |
16 | g.56886382C>T | CA8069669 | SLC12A3 | c.1944C>T (p.Leu648=) c.1941C>T (p.Leu647=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886383A>C | CA395992840 | SLC12A3 | c.1945A>C (p.Thr649Pro) c.1942A>C (p.Thr648Pro) | |
16 | g.56886383A>G | CA395992838 | SLC12A3 | c.1945A>G (p.Thr649Ala) c.1942A>G (p.Thr648Ala) | gnomAD v4 |
16 | g.56886383A>T | CA395992836 | SLC12A3 | c.1945A>T (p.Thr649Ser) c.1942A>T (p.Thr648Ser) | |
16 | g.56886384C>A | CA395992843 | SLC12A3 | c.1946C>A (p.Thr649Lys) c.1943C>A (p.Thr648Lys) | |
16 | g.56886384C= | CA2224357196 | SLC12A3 | c.1946C= (p.Thr649=) c.1943C= (p.Thr648=) | |
16 | g.56886384C>G | CA395992845 | SLC12A3 | c.1946C>G (p.Thr649Arg) c.1943C>G (p.Thr648Arg) | gnomAD v4 |
16 | g.56886384C>T | CA8069670 | SLC12A3 | c.1946C>T (p.Thr649Met) c.1943C>T (p.Thr648Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886385G>A | CA8069671 | SLC12A3 | c.1947G>A (p.Thr649=) c.1944G>A (p.Thr648=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56886385G>C | CA495604930 | SLC12A3 | c.1947G>C (p.Thr649=) c.1944G>C (p.Thr648=) | |
16 | g.56886385G= | CA2224357197 | SLC12A3 | c.1947G= (p.Thr649=) c.1944G= (p.Thr648=) | |
16 | g.56886385G>T | CA495604931 | SLC12A3 | c.1947G>T (p.Thr649=) c.1944G>T (p.Thr648=) | dbSNP |
16 | g.56886386G>A | CA395992851 | SLC12A3 | c.1948G>A (p.Gly650Arg) c.1945G>A (p.Gly649Arg) | COSMIC |
16 | g.56886386G>C | CA395992853 | SLC12A3 | c.1948G>C (p.Gly650Arg) c.1945G>C (p.Gly649Arg) | dbSNP |
16 | g.56886386G= | CA2224357198 | SLC12A3 | c.1948G= (p.Gly650=) c.1945G= (p.Gly649=) | |
16 | g.56886386G>T | CA395992854 | SLC12A3 | c.1948G>T (p.Gly650Trp) c.1945G>T (p.Gly649Trp) | |
16 | g.56886387G>A | CA395992862 | SLC12A3 | c.1949G>A (p.Gly650Glu) c.1946G>A (p.Gly649Glu) | gnomAD v4 |
16 | g.56886387G>C | CA395992860 | SLC12A3 | c.1949G>C (p.Gly650Ala) c.1946G>C (p.Gly649Ala) | |
16 | g.56886387G>T | CA395992857 | SLC12A3 | c.1949G>T (p.Gly650Val) c.1946G>T (p.Gly649Val) | |
16 | g.56886388G>A | CA495604939 | SLC12A3 | c.1950G>A (p.Gly650=) c.1947G>A (p.Gly649=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886388G>C | CA495604940 | SLC12A3 | c.1950G>C (p.Gly650=) c.1947G>C (p.Gly649=) | ClinVar gnomAD v4 |
16 | g.56886388G= | CA2224357199 | SLC12A3 | c.1950G= (p.Gly650=) c.1947G= (p.Gly649=) | |
16 | g.56886388G>T | CA495604942 | SLC12A3 | c.1950G>T (p.Gly650=) c.1947G>T (p.Gly649=) | dbSNP gnomAD v2 |
16 | g.56886388_56886389delinsGC | CA2224357200 | SLC12A3 | c.1950_1951delinsGC (p.Gly650=) c.1947_1948delinsGC (p.Gly649=) | |
16 | g.56886389C>A | CA395992863 | SLC12A3 | c.1951C>A (p.Pro651Thr) c.1948C>A (p.Pro650Thr) | |
16 | g.56886389C>G | CA395992864 | SLC12A3 | c.1951C>G (p.Pro651Ala) c.1948C>G (p.Pro650Ala) | |
16 | g.56886389C>T | CA395992865 | SLC12A3 | c.1951C>T (p.Pro651Ser) c.1948C>T (p.Pro650Ser) | COSMIC |
16 | g.56886394dup | CA2224357202 | SLC12A3 | c.1956dup (p.Asn653GlnfsTer?) c.1953dup (p.Asn652GlnfsTer?) | dbSNP gnomAD v4 |
16 | g.56886393_56886394dup | CA2807160498 | SLC12A3 | c.1955_1956dup (p.Asn653ProfsTer20) c.1952_1953dup (p.Asn652ProfsTer20) | |
16 | g.56886394del | CA2224357201 | SLC12A3 | c.1956del (p.Asn653ThrfsTer19) c.1953del (p.Asn652ThrfsTer19) | dbSNP gnomAD v4 |
16 | g.56886390C>A | CA395992866 | SLC12A3 | c.1952C>A (p.Pro651His) c.1949C>A (p.Pro650His) | dbSNP gnomAD v4 |
16 | g.56886390C= | CA2224357203 | SLC12A3 | c.1952C= (p.Pro651=) c.1949C= (p.Pro650=) | |
16 | g.56886390C>G | CA395992867 | SLC12A3 | c.1952C>G (p.Pro651Arg) c.1949C>G (p.Pro650Arg) | |
16 | g.56886390C>T | CA281508808 | SLC12A3 | c.1952C>T (p.Pro651Leu) c.1949C>T (p.Pro650Leu) | dbSNP |
16 | g.56886391C>A | CA495604948 | SLC12A3 | c.1953C>A (p.Pro651=) c.1950C>A (p.Pro650=) | gnomAD v4 |
16 | g.56886391C= | CA2224357204 | SLC12A3 | c.1953C= (p.Pro651=) c.1950C= (p.Pro650=) | |
16 | g.56886391C>G | CA495604950 | SLC12A3 | c.1953C>G (p.Pro651=) c.1950C>G (p.Pro650=) | |
16 | g.56886391C>T | CA495604952 | SLC12A3 | c.1953C>T (p.Pro651=) c.1950C>T (p.Pro650=) | ClinVar dbSNP COSMIC |
16 | g.56886392C>A | CA395992870 | SLC12A3 | c.1954C>A (p.Pro652Thr) c.1951C>A (p.Pro651Thr) | |
16 | g.56886392C= | CA2224357205 | SLC12A3 | c.1954C= (p.Pro652=) c.1951C= (p.Pro651=) | |
16 | g.56886392C>G | CA395992872 | SLC12A3 | c.1954C>G (p.Pro652Ala) c.1951C>G (p.Pro651Ala) | |
16 | g.56886392C>T | CA8069672 | SLC12A3 | c.1954C>T (p.Pro652Ser) c.1951C>T (p.Pro651Ser) | dbSNP ExAC |
16 | g.56886393C>A | CA395992877 | SLC12A3 | c.1955C>A (p.Pro652His) c.1952C>A (p.Pro651His) | |
16 | g.56886393C>G | CA395992879 | SLC12A3 | c.1955C>G (p.Pro652Arg) c.1952C>G (p.Pro651Arg) | |
16 | g.56886393C>T | CA395992881 | SLC12A3 | c.1955C>T (p.Pro652Leu) c.1952C>T (p.Pro651Leu) | gnomAD v4 |
16 | g.56886394C>A | CA216094 | SLC12A3 | c.1956C>A (p.Pro652=) c.1953C>A (p.Pro651=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886394C= | CA2224357206 | SLC12A3 | c.1956C= (p.Pro652=) c.1953C= (p.Pro651=) | |
16 | g.56886394C>G | CA495604962 | SLC12A3 | c.1956C>G (p.Pro652=) c.1953C>G (p.Pro651=) | dbSNP |
16 | g.56886394C>T | CA495604960 | SLC12A3 | c.1956C>T (p.Pro652=) c.1953C>T (p.Pro651=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886395A>C | CA395992891 | SLC12A3 | c.1957A>C (p.Asn653His) c.1954A>C (p.Asn652His) | |
16 | g.56886395A>G | CA395992889 | SLC12A3 | c.1957A>G (p.Asn653Asp) c.1954A>G (p.Asn652Asp) | |
16 | g.56886395A>T | CA395992887 | SLC12A3 | c.1957A>T (p.Asn653Tyr) c.1954A>T (p.Asn652Tyr) | |
16 | g.56886396A>C | CA395992895 | SLC12A3 | c.1958A>C (p.Asn653Thr) c.1955A>C (p.Asn652Thr) | |
16 | g.56886396A>G | CA395992897 | SLC12A3 | c.1958A>G (p.Asn653Ser) c.1955A>G (p.Asn652Ser) | gnomAD v4 |
16 | g.56886396A>T | CA395992899 | SLC12A3 | c.1958A>T (p.Asn653Ile) c.1955A>T (p.Asn652Ile) | |
16 | g.56886397C>A | CA395992902 | SLC12A3 | c.1959C>A (p.Asn653Lys) c.1956C>A (p.Asn652Lys) | |
16 | g.56886397C>G | CA395992903 | SLC12A3 | c.1959C>G (p.Asn653Lys) c.1956C>G (p.Asn652Lys) | |
16 | g.56886397C>T | CA495604970 | SLC12A3 | c.1959C>T (p.Asn653=) c.1956C>T (p.Asn652=) | ClinVar dbSNP |
16 | g.56886398T>A | CA395992906 | SLC12A3 | c.1960T>A (p.Phe654Ile) c.1957T>A (p.Phe653Ile) | |
16 | g.56886398T>C | CA395992907 | SLC12A3 | c.1960T>C (p.Phe654Leu) c.1957T>C (p.Phe653Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886398T>G | CA395992909 | SLC12A3 | c.1960T>G (p.Phe654Val) c.1957T>G (p.Phe653Val) | |
16 | g.56886398T= | CA2224357207 | SLC12A3 | c.1960T= (p.Phe654=) c.1957T= (p.Phe653=) | |
16 | g.56886399T>A | CA395992912 | SLC12A3 | c.1961T>A (p.Phe654Tyr) c.1958T>A (p.Phe653Tyr) | |
16 | g.56886399T>C | CA395992914 | SLC12A3 | c.1961T>C (p.Phe654Ser) c.1958T>C (p.Phe653Ser) | |
16 | g.56886399T>G | CA395992916 | SLC12A3 | c.1961T>G (p.Phe654Cys) c.1958T>G (p.Phe653Cys) | |
16 | g.56886400C>A | CA395992919 | SLC12A3 | c.1962C>A (p.Phe654Leu) c.1959C>A (p.Phe653Leu) | |
16 | g.56886400C>G | CA395992922 | SLC12A3 | c.1962C>G (p.Phe654Leu) c.1959C>G (p.Phe653Leu) | |
16 | g.56886400C>T | CA495604977 | SLC12A3 | c.1962C>T (p.Phe654=) c.1959C>T (p.Phe653=) | ClinVar dbSNP |
16 | g.56886401C>A | CA395992927 | SLC12A3 | c.1963C>A (p.Arg655Ser) c.1960C>A (p.Arg654Ser) | |
16 | g.56886401C= | CA2224357208 | SLC12A3 | c.1963C= (p.Arg655=) c.1960C= (p.Arg654=) | |
16 | g.56886401C>G | CA395992925 | SLC12A3 | c.1963C>G (p.Arg655Gly) c.1960C>G (p.Arg654Gly) | |
16 | g.56886401C>T | CA8069673 | SLC12A3 | c.1963C>T (p.Arg655Cys) c.1960C>T (p.Arg654Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56886402G>A | CA119770 | SLC12A3 | c.1964G>A (p.Arg655His) c.1961G>A (p.Arg654His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886402G>C | CA395992934 | SLC12A3 | c.1964G>C (p.Arg655Pro) c.1961G>C (p.Arg654Pro) | |
16 | g.56886402G= | CA2224357209 | SLC12A3 | c.1964G= (p.Arg655=) c.1961G= (p.Arg654=) | |
16 | g.56886402G>T | CA119772 | SLC12A3 | c.1964G>T (p.Arg655Leu) c.1961G>T (p.Arg654Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886402_56886403delinsGC | CA2224357210 | SLC12A3 | c.1964_1965delinsGC (p.Arg655=) c.1961_1962delinsGC (p.Arg654=) | |
16 | g.56886403C>A | CA495604984 | SLC12A3 | c.1965C>A (p.Arg655=) c.1962C>A (p.Arg654=) | |
16 | g.56886403C= | CA2224357211 | SLC12A3 | c.1965C= (p.Arg655=) c.1962C= (p.Arg654=) | |
16 | g.56886403C>G | CA495604986 | SLC12A3 | c.1965C>G (p.Arg655=) c.1962C>G (p.Arg654=) | |
16 | g.56886403C>T | CA8069674 | SLC12A3 | c.1965C>T (p.Arg655=) c.1962C>T (p.Arg654=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886405del | CA622338403 | SLC12A3 | c.1967del (p.Pro656ArgfsTer16) c.1964del (p.Pro655ArgfsTer16) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886404C>A | CA395992941 | SLC12A3 | c.1966C>A (p.Pro656Thr) c.1963C>A (p.Pro655Thr) | |
16 | g.56886404C>G | CA395992945 | SLC12A3 | c.1966C>G (p.Pro656Ala) c.1963C>G (p.Pro655Ala) | |
16 | g.56886404C>T | CA395992948 | SLC12A3 | c.1966C>T (p.Pro656Ser) c.1963C>T (p.Pro655Ser) | |
16 | g.56886405C>A | CA395992950 | SLC12A3 | c.1967C>A (p.Pro656Gln) c.1964C>A (p.Pro655Gln) | |
16 | g.56886405C= | CA2224357212 | SLC12A3 | c.1967C= (p.Pro656=) c.1964C= (p.Pro655=) | |
16 | g.56886405C>G | CA395992954 | SLC12A3 | c.1967C>G (p.Pro656Arg) c.1964C>G (p.Pro655Arg) | ClinVar |
16 | g.56886405C>T | CA8069675 | SLC12A3 | c.1967C>T (p.Pro656Leu) c.1964C>T (p.Pro655Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886406G>A | CA8069676 | SLC12A3 | c.1968G>A (p.Pro656=) c.1965G>A (p.Pro655=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886406G>C | CA495604994 | SLC12A3 | c.1968G>C (p.Pro656=) c.1965G>C (p.Pro655=) | gnomAD v4 |
16 | g.56886406G= | CA2224357213 | SLC12A3 | c.1968G= (p.Pro656=) c.1965G= (p.Pro655=) | |
16 | g.56886406G>T | CA495604996 | SLC12A3 | c.1968G>T (p.Pro656=) c.1965G>T (p.Pro655=) | COSMIC |
16 | g.56886407G>A | CA8069677 | SLC12A3 | c.1969G>A (p.Ala657Thr) c.1966G>A (p.Ala656Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886407G>C | CA395992961 | SLC12A3 | c.1969G>C (p.Ala657Pro) c.1966G>C (p.Ala656Pro) | |
16 | g.56886407G= | CA2224357214 | SLC12A3 | c.1969G= (p.Ala657=) c.1966G= (p.Ala656=) | |
16 | g.56886407G>T | CA395992964 | SLC12A3 | c.1969G>T (p.Ala657Ser) c.1966G>T (p.Ala656Ser) | |
16 | g.56886408C>A | CA8069678 | SLC12A3 | c.1970C>A (p.Ala657Asp) c.1967C>A (p.Ala656Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886408C= | CA2224357215 | SLC12A3 | c.1970C= (p.Ala657=) c.1967C= (p.Ala656=) | |
16 | g.56886408C>G | CA395992973 | SLC12A3 | c.1970C>G (p.Ala657Gly) c.1967C>G (p.Ala656Gly) | |
16 | g.56886408C>T | CA281508858 | SLC12A3 | c.1970C>T (p.Ala657Val) c.1967C>T (p.Ala656Val) | dbSNP gnomAD v4 |
16 | g.56886409C>A | CA495605004 | SLC12A3 | c.1971C>A (p.Ala657=) c.1968C>A (p.Ala656=) | |
16 | g.56886409C>G | CA495605001 | SLC12A3 | c.1971C>G (p.Ala657=) c.1968C>G (p.Ala656=) | |
16 | g.56886409C>T | CA495605002 | SLC12A3 | c.1971C>T (p.Ala657=) c.1968C>T (p.Ala656=) | ClinVar dbSNP |
16 | g.56886410C>A | CA395992977 | SLC12A3 | c.1972C>A (p.Leu658Met) c.1969C>A (p.Leu657Met) | |
16 | g.56886410C>G | CA395992979 | SLC12A3 | c.1972C>G (p.Leu658Val) c.1969C>G (p.Leu657Val) | gnomAD v4 |
16 | g.56886410C>T | CA495605007 | SLC12A3 | c.1972C>T (p.Leu658=) c.1969C>T (p.Leu657=) | |
16 | g.56886411del | CA2633374481 | SLC12A3 | c.1973del (p.Leu658ArgfsTer14) c.1970del (p.Leu657ArgfsTer14) | gnomAD v4 |
16 | g.56886411T>A | CA395992983 | SLC12A3 | c.1973T>A (p.Leu658Gln) c.1970T>A (p.Leu657Gln) | |
16 | g.56886411T>C | CA395992986 | SLC12A3 | c.1973T>C (p.Leu658Pro) c.1970T>C (p.Leu657Pro) | |
16 | g.56886411T>G | CA395992989 | SLC12A3 | c.1973T>G (p.Leu658Arg) c.1970T>G (p.Leu657Arg) | |
16 | g.56886412G>A | CA495605010 | SLC12A3 | c.1974G>A (p.Leu658=) c.1971G>A (p.Leu657=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886412G>C | CA495605012 | SLC12A3 | c.1974G>C (p.Leu658=) c.1971G>C (p.Leu657=) | |
16 | g.56886412G= | CA2224357216 | SLC12A3 | c.1974G= (p.Leu658=) c.1971G= (p.Leu657=) | |
16 | g.56886412G>T | CA495605013 | SLC12A3 | c.1974G>T (p.Leu658=) c.1971G>T (p.Leu657=) | |
16 | g.56886413G>A | CA395992994 | SLC12A3 | c.1975G>A (p.Val659Met) c.1972G>A (p.Val658Met) | dbSNP |
16 | g.56886413G>C | CA395992997 | SLC12A3 | c.1975G>C (p.Val659Leu) c.1972G>C (p.Val658Leu) | |
16 | g.56886413G= | CA2224357217 | SLC12A3 | c.1975G= (p.Val659=) c.1972G= (p.Val658=) | |
16 | g.56886413G>T | CA395993000 | SLC12A3 | c.1975G>T (p.Val659Leu) c.1972G>T (p.Val658Leu) | |
16 | g.56886414T>A | CA395993004 | SLC12A3 | c.1976T>A (p.Val659Glu) c.1973T>A (p.Val658Glu) | gnomAD v4 |
16 | g.56886414T>C | CA395993008 | SLC12A3 | c.1976T>C (p.Val659Ala) c.1973T>C (p.Val658Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886414T>G | CA395993009 | SLC12A3 | c.1976T>G (p.Val659Gly) c.1973T>G (p.Val658Gly) | |
16 | g.56886414T= | CA2224357218 | SLC12A3 | c.1976T= (p.Val659=) c.1973T= (p.Val658=) | |
16 | g.56886415G>A | CA495605020 | SLC12A3 | c.1977G>A (p.Val659=) c.1974G>A (p.Val658=) | |
16 | g.56886415G>C | CA495605024 | SLC12A3 | c.1977G>C (p.Val659=) c.1974G>C (p.Val658=) | |
16 | g.56886415G>T | CA495605022 | SLC12A3 | c.1977G>T (p.Val659=) c.1974G>T (p.Val658=) | |
16 | g.56886415_56886416delinsAA | CA645585194 | SLC12A3 | c.1977_1978delinsAA (p.Asp660Asn) c.1974_1975delinsAA (p.Asp659Asn) | COSMIC |
16 | g.56886416G>A | CA395993015 | SLC12A3 | c.1978G>A (p.Asp660Asn) c.1975G>A (p.Asp659Asn) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886416G>C | CA395993020 | SLC12A3 | c.1978G>C (p.Asp660His) c.1975G>C (p.Asp659His) | |
16 | g.56886416G= | CA2224357219 | SLC12A3 | c.1978G= (p.Asp660=) c.1975G= (p.Asp659=) | |
16 | g.56886416G>T | CA395993017 | SLC12A3 | c.1978G>T (p.Asp660Tyr) c.1975G>T (p.Asp659Tyr) | |
16 | g.56886417A>C | CA395993023 | SLC12A3 | c.1979A>C (p.Asp660Ala) c.1976A>C (p.Asp659Ala) | |
16 | g.56886417A>G | CA395993029 | SLC12A3 | c.1979A>G (p.Asp660Gly) c.1976A>G (p.Asp659Gly) | |
16 | g.56886417A>T | CA395993027 | SLC12A3 | c.1979A>T (p.Asp660Val) c.1976A>T (p.Asp659Val) | |
16 | g.56886418C>A | CA395993032 | SLC12A3 | c.1980C>A (p.Asp660Glu) c.1977C>A (p.Asp659Glu) | |
16 | g.56886418C= | CA2224357220 | SLC12A3 | c.1980C= (p.Asp660=) c.1977C= (p.Asp659=) | |
16 | g.56886418C>G | CA395993045 | SLC12A3 | c.1980C>G (p.Asp660Glu) c.1977C>G (p.Asp659Glu) | |
16 | g.56886418C>T | CA8069679 | SLC12A3 | c.1980C>T (p.Asp660=) c.1977C>T (p.Asp659=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886419T>A | CA395993048 | SLC12A3 | c.1981T>A (p.Phe661Ile) c.1978T>A (p.Phe660Ile) | |
16 | g.56886419T>C | CA395993054 | SLC12A3 | c.1981T>C (p.Phe661Leu) c.1978T>C (p.Phe660Leu) | |
16 | g.56886419T>G | CA395993052 | SLC12A3 | c.1981T>G (p.Phe661Val) c.1978T>G (p.Phe660Val) | |
16 | g.56886420T>A | CA395993060 | SLC12A3 | c.1982T>A (p.Phe661Tyr) c.1979T>A (p.Phe660Tyr) | |
16 | g.56886420T>C | CA395993064 | SLC12A3 | c.1982T>C (p.Phe661Ser) c.1979T>C (p.Phe660Ser) | |
16 | g.56886420T>G | CA395993067 | SLC12A3 | c.1982T>G (p.Phe661Cys) c.1979T>G (p.Phe660Cys) | |
16 | g.56886421T>A | CA395993070 | SLC12A3 | c.1983T>A (p.Phe661Leu) c.1980T>A (p.Phe660Leu) | |
16 | g.56886421T>C | CA495605039 | SLC12A3 | c.1983T>C (p.Phe661=) c.1980T>C (p.Phe660=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886421T>G | CA395993073 | SLC12A3 | c.1983T>G (p.Phe661Leu) c.1980T>G (p.Phe660Leu) | |
16 | g.56886421T= | CA2224357221 | SLC12A3 | c.1983T= (p.Phe661=) c.1980T= (p.Phe660=) | |
16 | g.56886422G>A | CA395993079 | SLC12A3 | c.1984G>A (p.Val662Met) c.1981G>A (p.Val661Met) | |
16 | g.56886422G>C | CA395993082 | SLC12A3 | c.1984G>C (p.Val662Leu) c.1981G>C (p.Val661Leu) | |
16 | g.56886422G>T | CA395993086 | SLC12A3 | c.1984G>T (p.Val662Leu) c.1981G>T (p.Val661Leu) | |
16 | g.56886423T>A | CA395993091 | SLC12A3 | c.1985T>A (p.Val662Glu) c.1982T>A (p.Val661Glu) | |
16 | g.56886423T>C | CA395993094 | SLC12A3 | c.1985T>C (p.Val662Ala) c.1982T>C (p.Val661Ala) | gnomAD v4 |
16 | g.56886423T>G | CA395993096 | SLC12A3 | c.1985T>G (p.Val662Gly) c.1982T>G (p.Val661Gly) | |
16 | g.56886424G>A | CA495605046 | SLC12A3 | c.1986G>A (p.Val662=) c.1983G>A (p.Val661=) | ClinVar |
16 | g.56886424G>C | CA495605047 | SLC12A3 | c.1986G>C (p.Val662=) c.1983G>C (p.Val661=) | |
16 | g.56886424G>T | CA495605049 | SLC12A3 | c.1986G>T (p.Val662=) c.1983G>T (p.Val661=) |