Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56885264G>ACA395991265SLC12A3c.1826-1G>A (n.1826-1G>A)
c.1823-1G>A (n.1823-1G>A)
gnomAD v4
16g.56885264G>CCA395991263SLC12A3c.1826-1G>C (n.1826-1G>C)
c.1823-1G>C (n.1823-1G>C)
gnomAD v4
16g.56885264G>TCA395991261SLC12A3c.1826-1G>T (n.1826-1G>T)
c.1823-1G>T (n.1823-1G>T)
gnomAD v4
16g.56885265A>CCA395991269SLC12A3c.1826A>C (p.Glu609Ala)
c.1823A>C (p.Glu608Ala)
gnomAD v4
16g.56885265A>GCA395991271SLC12A3c.1826A>G (p.Glu609Gly)
c.1823A>G (p.Glu608Gly)
gnomAD v4
16g.56885265A>TCA395991273SLC12A3c.1826A>T (p.Glu609Val)
c.1823A>T (p.Glu608Val)
16g.56885266G>ACA495604609SLC12A3c.1827G>A (p.Glu609=)
c.1824G>A (p.Glu608=)
gnomAD v4
16g.56885266G>CCA395991274SLC12A3c.1827G>C (p.Glu609Asp)
c.1824G>C (p.Glu608Asp)
16g.56885266G>TCA395991276SLC12A3c.1827G>T (p.Glu609Asp)
c.1824G>T (p.Glu608Asp)
16g.56885267G>ACA395991278SLC12A3c.1828G>A (p.Val610Ile)
c.1825G>A (p.Val609Ile)
gnomAD v4
16g.56885267G>CCA395991281SLC12A3c.1828G>C (p.Val610Leu)
c.1825G>C (p.Val609Leu)
16g.56885267G>TCA395991283SLC12A3c.1828G>T (p.Val610Leu)
c.1825G>T (p.Val609Leu)
gnomAD v4
16g.56885268T>ACA395991285SLC12A3c.1829T>A (p.Val610Glu)
c.1826T>A (p.Val609Glu)
gnomAD v4
16g.56885268T>CCA395991288SLC12A3c.1829T>C (p.Val610Ala)
c.1826T>C (p.Val609Ala)
gnomAD v4
16g.56885268T>GCA395991290SLC12A3c.1829T>G (p.Val610Gly)
c.1826T>G (p.Val609Gly)
16g.56885269A>CCA495604612SLC12A3c.1830A>C (p.Val610=)
c.1827A>C (p.Val609=)
16g.56885269A>GCA495604611SLC12A3c.1830A>G (p.Val610=)
c.1827A>G (p.Val609=)
16g.56885269A>TCA495604610SLC12A3c.1830A>T (p.Val610=)
c.1827A>T (p.Val609=)
16g.56885271delCA2633373911SLC12A3c.1832del (p.Asn611IlefsTer?)
c.1829del (p.Asn610IlefsTer?)
gnomAD v4
16g.56885270A=CA2224356639SLC12A3c.1831A= (p.Asn611=)
c.1828A= (p.Asn610=)
16g.56885270A>CCA395991293SLC12A3c.1831A>C (p.Asn611His)
c.1828A>C (p.Asn610His)
dbSNP gnomAD v3 gnomAD v4
16g.56885270A>GCA395991295SLC12A3c.1831A>G (p.Asn611Asp)
c.1828A>G (p.Asn610Asp)
16g.56885270A>TCA395991297SLC12A3c.1831A>T (p.Asn611Tyr)
c.1828A>T (p.Asn610Tyr)
16g.56885271A>CCA395991301SLC12A3c.1832A>C (p.Asn611Thr)
c.1829A>C (p.Asn610Thr)
COSMIC
16g.56885271A>GCA395991303SLC12A3c.1832A>G (p.Asn611Ser)
c.1829A>G (p.Asn610Ser)
gnomAD v4
16g.56885271A>TCA395991299SLC12A3c.1832A>T (p.Asn611Ile)
c.1829A>T (p.Asn610Ile)
16g.56885272T>ACA395991306SLC12A3c.1833T>A (p.Asn611Lys)
c.1830T>A (p.Asn610Lys)
dbSNP gnomAD v2 gnomAD v4
16g.56885272T>CCA8069640SLC12A3c.1833T>C (p.Asn611=)
c.1830T>C (p.Asn610=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56885272T>GCA395991311SLC12A3c.1833T>G (p.Asn611Lys)
c.1830T>G (p.Asn610Lys)
16g.56885272T=CA2224356640SLC12A3c.1833T= (p.Asn611=)
c.1830T= (p.Asn610=)
16g.56885273T>ACA395991313SLC12A3c.1834T>A (p.Trp612Arg)
c.1831T>A (p.Trp611Arg)
gnomAD v4
16g.56885273T>CCA395991315SLC12A3c.1834T>C (p.Trp612Arg)
c.1831T>C (p.Trp611Arg)
dbSNP gnomAD v4
16g.56885273T>GCA395991317SLC12A3c.1834T>G (p.Trp612Gly)
c.1831T>G (p.Trp611Gly)
16g.56885273T=CA2224356641SLC12A3c.1834T= (p.Trp612=)
c.1831T= (p.Trp611=)
16g.56885274G>ACA395991321SLC12A3c.1835G>A (p.Trp612Ter)
c.1832G>A (p.Trp611Ter)
16g.56885274G>CCA395991322SLC12A3c.1835G>C (p.Trp612Ser)
c.1832G>C (p.Trp611Ser)
16g.56885274G>TCA395991324SLC12A3c.1835G>T (p.Trp612Leu)
c.1832G>T (p.Trp611Leu)
gnomAD v4
16g.56885277delCA2633373927SLC12A3c.1838del (p.Gly613AlafsTer?)
c.1835del (p.Gly612AlafsTer?)
gnomAD v4
16g.56885275G>ACA395991329SLC12A3c.1836G>A (p.Trp612Ter)
c.1833G>A (p.Trp611Ter)
16g.56885275G>CCA395991330SLC12A3c.1836G>C (p.Trp612Cys)
c.1833G>C (p.Trp611Cys)
16g.56885275G=CA2224356642SLC12A3c.1836G= (p.Trp612=)
c.1833G= (p.Trp611=)
16g.56885275G>TCA395991332SLC12A3c.1836G>T (p.Trp612Cys)
c.1833G>T (p.Trp611Cys)
dbSNP gnomAD v4
16g.56885276G>ACA395991337SLC12A3c.1837G>A (p.Gly613Ser)
c.1834G>A (p.Gly612Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56885276G>CCA395991334SLC12A3c.1837G>C (p.Gly613Arg)
c.1834G>C (p.Gly612Arg)
16g.56885276G=CA2224356643SLC12A3c.1837G= (p.Gly613=)
c.1834G= (p.Gly612=)
16g.56885276G>TCA395991335SLC12A3c.1837G>T (p.Gly613Cys)
c.1834G>T (p.Gly612Cys)
gnomAD v4 COSMIC
16g.56885277G>ACA395991340SLC12A3c.1838G>A (p.Gly613Asp)
c.1835G>A (p.Gly612Asp)
gnomAD v4
16g.56885277G>CCA395991343SLC12A3c.1838G>C (p.Gly613Ala)
c.1835G>C (p.Gly612Ala)
16g.56885277G>TCA395991345SLC12A3c.1838G>T (p.Gly613Val)
c.1835G>T (p.Gly612Val)
16g.56885278C>ACA495604613SLC12A3c.1839C>A (p.Gly613=)
c.1836C>A (p.Gly612=)
gnomAD v4

Number of alleles fetched