Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56904352C>ACA2633380355MIR6863,SLC12A3c.2857-43C>A (n.2857-43C>A)
c.2854-43C>A (n.2854-43C>A)
c.2884-43C>A (n.2884-43C>A)
c.2881-43C>A (n.2881-43C>A)
n.288-43C>A
n.89C>A
gnomAD v4
16g.56904352C>TCA2732474378MIR6863,SLC12A3c.2857-43C>T (n.2857-43C>T)
c.2854-43C>T (n.2854-43C>T)
c.2884-43C>T (n.2884-43C>T)
c.2881-43C>T (n.2881-43C>T)
n.288-43C>T
n.89C>T
dbSNP
16g.56904353T>CCA8070117MIR6863,SLC12A3c.2857-42T>C (n.2857-42T>C)
c.2854-42T>C (n.2854-42T>C)
c.2884-42T>C (n.2884-42T>C)
c.2881-42T>C (n.2881-42T>C)
n.288-42T>C
n.90T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904353T=CA2224365703MIR6863,SLC12A3c.2857-42T= (n.2857-42T=)
c.2854-42T= (n.2854-42T=)
c.2884-42T= (n.2884-42T=)
c.2881-42T= (n.2881-42T=)
n.288-42T=
n.90T=
16g.56904354C>ACA2633380367SLC12A3c.2857-41C>A (n.2857-41C>A)
c.2854-41C>A (n.2854-41C>A)
c.2884-41C>A (n.2884-41C>A)
c.2881-41C>A (n.2881-41C>A)
n.288-41C>A
gnomAD v4
16g.56904354C=CA2224365704SLC12A3c.2857-41C= (n.2857-41C=)
c.2854-41C= (n.2854-41C=)
c.2884-41C= (n.2884-41C=)
c.2881-41C= (n.2881-41C=)
n.288-41C=
16g.56904354C>GCA2576002404SLC12A3c.2857-41C>G (n.2857-41C>G)
c.2854-41C>G (n.2854-41C>G)
c.2884-41C>G (n.2884-41C>G)
c.2881-41C>G (n.2881-41C>G)
n.288-41C>G
16g.56904354C>TCA622342489SLC12A3c.2857-41C>T (n.2857-41C>T)
c.2854-41C>T (n.2854-41C>T)
c.2884-41C>T (n.2884-41C>T)
c.2881-41C>T (n.2881-41C>T)
n.288-41C>T
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.56904355G>ACA8070118SLC12A3c.2857-40G>A (n.2857-40G>A)
c.2854-40G>A (n.2854-40G>A)
c.2884-40G>A (n.2884-40G>A)
c.2881-40G>A (n.2881-40G>A)
n.288-40G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904355G=CA2224365705SLC12A3c.2857-40G= (n.2857-40G=)
c.2854-40G= (n.2854-40G=)
c.2884-40G= (n.2884-40G=)
c.2881-40G= (n.2881-40G=)
n.288-40G=
16g.56904356A=CA2224365706SLC12A3c.2857-39A= (n.2857-39A=)
c.2854-39A= (n.2854-39A=)
c.2884-39A= (n.2884-39A=)
c.2881-39A= (n.2881-39A=)
n.288-39A=
16g.56904356A>GCA2224365707SLC12A3c.2857-39A>G (n.2857-39A>G)
c.2854-39A>G (n.2854-39A>G)
c.2884-39A>G (n.2884-39A>G)
c.2881-39A>G (n.2881-39A>G)
n.288-39A>G
dbSNP gnomAD v3 gnomAD v4
16g.56904356A>TCA2807160857SLC12A3c.2857-39A>T (n.2857-39A>T)
c.2854-39A>T (n.2854-39A>T)
c.2884-39A>T (n.2884-39A>T)
c.2881-39A>T (n.2881-39A>T)
n.288-39A>T
16g.56904357T>CCA2633380377SLC12A3c.2857-38T>C (n.2857-38T>C)
c.2854-38T>C (n.2854-38T>C)
c.2884-38T>C (n.2884-38T>C)
c.2881-38T>C (n.2881-38T>C)
n.288-38T>C
gnomAD v4
16g.56904357T>GCA2633380380SLC12A3c.2857-38T>G (n.2857-38T>G)
c.2854-38T>G (n.2854-38T>G)
c.2884-38T>G (n.2884-38T>G)
c.2881-38T>G (n.2881-38T>G)
n.288-38T>G
gnomAD v4
16g.56904358G>ACA622342492SLC12A3c.2857-37G>A (n.2857-37G>A)
c.2854-37G>A (n.2854-37G>A)
c.2884-37G>A (n.2884-37G>A)
c.2881-37G>A (n.2881-37G>A)
n.288-37G>A
dbSNP gnomAD v2 gnomAD v4
16g.56904358G=CA2224365708SLC12A3c.2857-37G= (n.2857-37G=)
c.2854-37G= (n.2854-37G=)
c.2884-37G= (n.2884-37G=)
c.2881-37G= (n.2881-37G=)
n.288-37G=
16g.56904358G>TCA2224365709SLC12A3c.2857-37G>T (n.2857-37G>T)
c.2854-37G>T (n.2854-37G>T)
c.2884-37G>T (n.2884-37G>T)
c.2881-37G>T (n.2881-37G>T)
n.288-37G>T
dbSNP
16g.56904360T>CCA2224365710SLC12A3c.2857-35T>C (n.2857-35T>C)
c.2854-35T>C (n.2854-35T>C)
c.2884-35T>C (n.2884-35T>C)
c.2881-35T>C (n.2881-35T>C)
n.288-35T>C
dbSNP
16g.56904360T=CA2224365711SLC12A3c.2857-35T= (n.2857-35T=)
c.2854-35T= (n.2854-35T=)
c.2884-35T= (n.2884-35T=)
c.2881-35T= (n.2881-35T=)
n.288-35T=
16g.56904361A>GCA2807160858SLC12A3c.2857-34A>G (n.2857-34A>G)
c.2854-34A>G (n.2854-34A>G)
c.2884-34A>G (n.2884-34A>G)
c.2881-34A>G (n.2881-34A>G)
n.288-34A>G
16g.56904361A>TCA2633380390SLC12A3c.2857-34A>T (n.2857-34A>T)
c.2854-34A>T (n.2854-34A>T)
c.2884-34A>T (n.2884-34A>T)
c.2881-34A>T (n.2881-34A>T)
n.288-34A>T
gnomAD v4
16g.56904362T>CCA2633380394SLC12A3c.2857-33T>C (n.2857-33T>C)
c.2854-33T>C (n.2854-33T>C)
c.2884-33T>C (n.2884-33T>C)
c.2881-33T>C (n.2881-33T>C)
n.288-33T>C
gnomAD v4
16g.56904363G>ACA8070119SLC12A3c.2857-32G>A (n.2857-32G>A)
c.2854-32G>A (n.2854-32G>A)
c.2884-32G>A (n.2884-32G>A)
c.2881-32G>A (n.2881-32G>A)
n.288-32G>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56904363G=CA2224365712SLC12A3c.2857-32G= (n.2857-32G=)
c.2854-32G= (n.2854-32G=)
c.2884-32G= (n.2884-32G=)
c.2881-32G= (n.2881-32G=)
n.288-32G=
16g.56904365delCA2633380399SLC12A3c.2857-30del (n.2857-30del)
c.2854-30del (n.2854-30del)
c.2884-30del (n.2884-30del)
c.2881-30del (n.2881-30del)
n.288-30del
gnomAD v4
16g.56904365G>CCA8070120SLC12A3c.2857-30G>C (n.2857-30G>C)
c.2854-30G>C (n.2854-30G>C)
c.2884-30G>C (n.2884-30G>C)
c.2881-30G>C (n.2881-30G>C)
n.288-30G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904365G=CA2224365713SLC12A3c.2857-30G= (n.2857-30G=)
c.2854-30G= (n.2854-30G=)
c.2884-30G= (n.2884-30G=)
c.2881-30G= (n.2881-30G=)
n.288-30G=
16g.56904368G>CCA622342499SLC12A3c.2857-27G>C (n.2857-27G>C)
c.2854-27G>C (n.2854-27G>C)
c.2884-27G>C (n.2884-27G>C)
c.2881-27G>C (n.2881-27G>C)
n.288-27G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56904368G=CA2224365714SLC12A3c.2857-27G= (n.2857-27G=)
c.2854-27G= (n.2854-27G=)
c.2884-27G= (n.2884-27G=)
c.2881-27G= (n.2881-27G=)
n.288-27G=
16g.56904368G>TCA622342500SLC12A3c.2857-27G>T (n.2857-27G>T)
c.2854-27G>T (n.2854-27G>T)
c.2884-27G>T (n.2884-27G>T)
c.2881-27G>T (n.2881-27G>T)
n.288-27G>T
dbSNP gnomAD v2 gnomAD v4
16g.56904369delCA2576002405SLC12A3c.2857-26del (n.2857-26del)
c.2854-26del (n.2854-26del)
c.2884-26del (n.2884-26del)
c.2881-26del (n.2881-26del)
n.288-26del
gnomAD v4
16g.56904369T>ACA2633380425SLC12A3c.2857-26T>A (n.2857-26T>A)
c.2854-26T>A (n.2854-26T>A)
c.2884-26T>A (n.2884-26T>A)
c.2881-26T>A (n.2881-26T>A)
n.288-26T>A
gnomAD v4
16g.56904369T>CCA2576002406SLC12A3c.2857-26T>C (n.2857-26T>C)
c.2854-26T>C (n.2854-26T>C)
c.2884-26T>C (n.2884-26T>C)
c.2881-26T>C (n.2881-26T>C)
n.288-26T>C
gnomAD v4
16g.56904370G>TCA2633380427SLC12A3c.2857-25G>T (n.2857-25G>T)
c.2854-25G>T (n.2854-25G>T)
c.2884-25G>T (n.2884-25G>T)
c.2881-25G>T (n.2881-25G>T)
n.288-25G>T
gnomAD v4
16g.56904372C>ACA8070122SLC12A3c.2857-23C>A (n.2857-23C>A)
c.2854-23C>A (n.2854-23C>A)
c.2884-23C>A (n.2884-23C>A)
c.2881-23C>A (n.2881-23C>A)
n.288-23C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904372C=CA2224365715SLC12A3c.2857-23C= (n.2857-23C=)
c.2854-23C= (n.2854-23C=)
c.2884-23C= (n.2884-23C=)
c.2881-23C= (n.2881-23C=)
n.288-23C=
16g.56904372C>TCA8070121SLC12A3c.2857-23C>T (n.2857-23C>T)
c.2854-23C>T (n.2854-23C>T)
c.2884-23C>T (n.2884-23C>T)
c.2881-23C>T (n.2881-23C>T)
n.288-23C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904373C=CA2224365716SLC12A3c.2857-22C= (n.2857-22C=)
c.2854-22C= (n.2854-22C=)
c.2884-22C= (n.2884-22C=)
c.2881-22C= (n.2881-22C=)
n.288-22C=
16g.56904373C>TCA8070123SLC12A3c.2857-22C>T (n.2857-22C>T)
c.2854-22C>T (n.2854-22C>T)
c.2884-22C>T (n.2884-22C>T)
c.2881-22C>T (n.2881-22C>T)
n.288-22C>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56904375C>GCA2633380439SLC12A3c.2857-20C>G (n.2857-20C>G)
c.2854-20C>G (n.2854-20C>G)
c.2884-20C>G (n.2884-20C>G)
c.2881-20C>G (n.2881-20C>G)
n.288-20C>G
gnomAD v4
16g.56904376T>ACA721950588SLC12A3c.2857-19T>A (n.2857-19T>A)
c.2854-19T>A (n.2854-19T>A)
c.2884-19T>A (n.2884-19T>A)
c.2881-19T>A (n.2881-19T>A)
n.288-19T>A
dbSNP
16g.56904376T=CA2224365717SLC12A3c.2857-19T= (n.2857-19T=)
c.2854-19T= (n.2854-19T=)
c.2884-19T= (n.2884-19T=)
c.2881-19T= (n.2881-19T=)
n.288-19T=
16g.56904377C>ACA8070125SLC12A3c.2857-18C>A (n.2857-18C>A)
c.2854-18C>A (n.2854-18C>A)
c.2884-18C>A (n.2884-18C>A)
c.2881-18C>A (n.2881-18C>A)
n.288-18C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904377C=CA2224365718SLC12A3c.2857-18C= (n.2857-18C=)
c.2854-18C= (n.2854-18C=)
c.2884-18C= (n.2884-18C=)
c.2881-18C= (n.2881-18C=)
n.288-18C=
16g.56904377C>TCA8070124SLC12A3c.2857-18C>T (n.2857-18C>T)
c.2854-18C>T (n.2854-18C>T)
c.2884-18C>T (n.2884-18C>T)
c.2881-18C>T (n.2881-18C>T)
n.288-18C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904378G>ACA8070126SLC12A3c.2857-17G>A (n.2857-17G>A)
c.2854-17G>A (n.2854-17G>A)
c.2884-17G>A (n.2884-17G>A)
c.2881-17G>A (n.2881-17G>A)
n.288-17G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904378G>CCA2581266927SLC12A3c.2857-17G>C (n.2857-17G>C)
c.2854-17G>C (n.2854-17G>C)
c.2884-17G>C (n.2884-17G>C)
c.2881-17G>C (n.2881-17G>C)
n.288-17G>C
ClinVar gnomAD v4
16g.56904378G=CA2224365719SLC12A3c.2857-17G= (n.2857-17G=)
c.2854-17G= (n.2854-17G=)
c.2884-17G= (n.2884-17G=)
c.2881-17G= (n.2881-17G=)
n.288-17G=
16g.56904378G>TCA2581266926SLC12A3c.2857-17G>T (n.2857-17G>T)
c.2854-17G>T (n.2854-17G>T)
c.2884-17G>T (n.2884-17G>T)
c.2881-17G>T (n.2881-17G>T)
n.288-17G>T
16g.56904378_56904379delinsAACA2573152520SLC12A3c.2857-17_2857-16delinsAA (n.2857-17_2857-16delinsAA)
c.2854-17_2854-16delinsAA (n.2854-17_2854-16delinsAA)
c.2884-17_2884-16delinsAA (n.2884-17_2884-16delinsAA)
c.2881-17_2881-16delinsAA (n.2881-17_2881-16delinsAA)
n.288-17_288-16delinsAA
ClinVar dbSNP
16g.56904379G>ACA495613543SLC12A3c.2857-16G>A (n.2857-16G>A)
c.2854-16G>A (n.2854-16G>A)
c.2884-16G>A (n.2884-16G>A)
c.2881-16G>A (n.2881-16G>A)
n.288-16G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56904379G>CCA622342525SLC12A3c.2857-16G>C (n.2857-16G>C)
c.2854-16G>C (n.2854-16G>C)
c.2884-16G>C (n.2884-16G>C)
c.2881-16G>C (n.2881-16G>C)
n.288-16G>C
dbSNP gnomAD v2
16g.56904379G=CA2224365720SLC12A3c.2857-16G= (n.2857-16G=)
c.2854-16G= (n.2854-16G=)
c.2884-16G= (n.2884-16G=)
c.2881-16G= (n.2881-16G=)
n.288-16G=
16g.56904383T>CCA2739266780SLC12A3c.2857-12T>C (n.2857-12T>C)
c.2854-12T>C (n.2854-12T>C)
c.2884-12T>C (n.2884-12T>C)
c.2881-12T>C (n.2881-12T>C)
n.288-12T>C
ClinVar
16g.56904386C>TCA2633380479SLC12A3c.2857-9C>T (n.2857-9C>T)
c.2854-9C>T (n.2854-9C>T)
c.2884-9C>T (n.2884-9C>T)
c.2881-9C>T (n.2881-9C>T)
n.288-9C>T
gnomAD v4
16g.56904388dupCA2633380478SLC12A3c.2857-7dup (n.2857-7dup)
c.2854-7dup (n.2854-7dup)
c.2884-7dup (n.2884-7dup)
c.2881-7dup (n.2881-7dup)
n.288-7dup
gnomAD v4
16g.56904387C=CA2224365721SLC12A3c.2857-8C= (n.2857-8C=)
c.2854-8C= (n.2854-8C=)
c.2884-8C= (n.2884-8C=)
c.2881-8C= (n.2881-8C=)
n.288-8C=
16g.56904387C>GCA915949278SLC12A3c.2857-8C>G (n.2857-8C>G)
c.2854-8C>G (n.2854-8C>G)
c.2884-8C>G (n.2884-8C>G)
c.2881-8C>G (n.2881-8C>G)
n.288-8C>G
ClinVar dbSNP
16g.56904388C>ACA2633380491SLC12A3c.2857-7C>A (n.2857-7C>A)
c.2854-7C>A (n.2854-7C>A)
c.2884-7C>A (n.2884-7C>A)
c.2881-7C>A (n.2881-7C>A)
n.288-7C>A
gnomAD v4
16g.56904388C=CA2224365722SLC12A3c.2857-7C= (n.2857-7C=)
c.2854-7C= (n.2854-7C=)
c.2884-7C= (n.2884-7C=)
c.2881-7C= (n.2881-7C=)
n.288-7C=
16g.56904388C>GCA2633380496SLC12A3c.2857-7C>G (n.2857-7C>G)
c.2854-7C>G (n.2854-7C>G)
c.2884-7C>G (n.2884-7C>G)
c.2881-7C>G (n.2881-7C>G)
n.288-7C>G
gnomAD v4
16g.56904388C>TCA8070127SLC12A3c.2857-7C>T (n.2857-7C>T)
c.2854-7C>T (n.2854-7C>T)
c.2884-7C>T (n.2884-7C>T)
c.2881-7C>T (n.2881-7C>T)
n.288-7C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904389G>ACA8070128SLC12A3c.2857-6G>A (n.2857-6G>A)
c.2854-6G>A (n.2854-6G>A)
c.2884-6G>A (n.2884-6G>A)
c.2881-6G>A (n.2881-6G>A)
n.288-6G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904389G=CA2224365723SLC12A3c.2857-6G= (n.2857-6G=)
c.2854-6G= (n.2854-6G=)
c.2884-6G= (n.2884-6G=)
c.2881-6G= (n.2881-6G=)
n.288-6G=
16g.56904389G>TCA721950602SLC12A3c.2857-6G>T (n.2857-6G>T)
c.2854-6G>T (n.2854-6G>T)
c.2884-6G>T (n.2884-6G>T)
c.2881-6G>T (n.2881-6G>T)
n.288-6G>T
ClinVar dbSNP gnomAD v4
16g.56904390C=CA2224365724SLC12A3c.2857-5C= (n.2857-5C=)
c.2854-5C= (n.2854-5C=)
c.2884-5C= (n.2884-5C=)
c.2881-5C= (n.2881-5C=)
n.288-5C=
16g.56904390C>TCA8070129SLC12A3c.2857-5C>T (n.2857-5C>T)
c.2854-5C>T (n.2854-5C>T)
c.2884-5C>T (n.2884-5C>T)
c.2881-5C>T (n.2881-5C>T)
n.288-5C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904393A>CCA396002152SLC12A3c.2857-2A>C (n.2857-2A>C)
c.2854-2A>C (n.2854-2A>C)
c.2884-2A>C (n.2884-2A>C)
c.2881-2A>C (n.2881-2A>C)
n.288-2A>C
16g.56904393A>GCA396002155SLC12A3c.2857-2A>G (n.2857-2A>G)
c.2854-2A>G (n.2854-2A>G)
c.2884-2A>G (n.2884-2A>G)
c.2881-2A>G (n.2881-2A>G)
n.288-2A>G
16g.56904393A>TCA396002158SLC12A3c.2857-2A>T (n.2857-2A>T)
c.2854-2A>T (n.2854-2A>T)
c.2884-2A>T (n.2884-2A>T)
c.2881-2A>T (n.2881-2A>T)
n.288-2A>T
16g.56904394G>ACA396002162SLC12A3c.2857-1G>A (n.2857-1G>A)
c.2854-1G>A (n.2854-1G>A)
c.2884-1G>A (n.2884-1G>A)
c.2881-1G>A (n.2881-1G>A)
n.288-1G>A
ClinVar dbSNP
16g.56904394G>CCA396002165SLC12A3c.2857-1G>C (n.2857-1G>C)
c.2854-1G>C (n.2854-1G>C)
c.2884-1G>C (n.2884-1G>C)
c.2881-1G>C (n.2881-1G>C)
n.288-1G>C
16g.56904394G>TCA396002168SLC12A3c.2857-1G>T (n.2857-1G>T)
c.2854-1G>T (n.2854-1G>T)
c.2884-1G>T (n.2884-1G>T)
c.2881-1G>T (n.2881-1G>T)
n.288-1G>T
16g.56904395T>ACA396002172SLC12A3c.2857T>A (p.Ser953Thr)
c.2854T>A (p.Ser952Thr)
c.2884T>A (p.Ser962Thr)
c.2881T>A (p.Ser961Thr)
n.288T>A
16g.56904395T>CCA396002178SLC12A3c.2857T>C (p.Ser953Pro)
c.2854T>C (p.Ser952Pro)
c.2884T>C (p.Ser962Pro)
c.2881T>C (p.Ser961Pro)
n.288T>C
16g.56904395T>GCA396002175SLC12A3c.2857T>G (p.Ser953Ala)
c.2854T>G (p.Ser952Ala)
c.2884T>G (p.Ser962Ala)
c.2881T>G (p.Ser961Ala)
n.288T>G
16g.56904396C>ACA396002184SLC12A3c.2858C>A (p.Ser953Tyr)
c.2855C>A (p.Ser952Tyr)
c.2885C>A (p.Ser962Tyr)
c.2882C>A (p.Ser961Tyr)
n.289C>A
gnomAD v4
16g.56904396C>GCA396002190SLC12A3c.2858C>G (p.Ser953Cys)
c.2855C>G (p.Ser952Cys)
c.2885C>G (p.Ser962Cys)
c.2882C>G (p.Ser961Cys)
n.289C>G
16g.56904396C>TCA396002194SLC12A3c.2858C>T (p.Ser953Phe)
c.2855C>T (p.Ser952Phe)
c.2885C>T (p.Ser962Phe)
c.2882C>T (p.Ser961Phe)
n.289C>T
16g.56904397C>ACA495613544SLC12A3c.2859C>A (p.Ser953=)
c.2856C>A (p.Ser952=)
c.2886C>A (p.Ser962=)
c.2883C>A (p.Ser961=)
n.290C>A
16g.56904397C=CA2224365725SLC12A3c.2859C= (p.Ser953=)
c.2856C= (p.Ser952=)
c.2886C= (p.Ser962=)
c.2883C= (p.Ser961=)
n.290C=
16g.56904397C>GCA495613545SLC12A3c.2859C>G (p.Ser953=)
c.2856C>G (p.Ser952=)
c.2886C>G (p.Ser962=)
c.2883C>G (p.Ser961=)
n.290C>G
16g.56904397C>TCA8070130SLC12A3c.2859C>T (p.Ser953=)
c.2856C>T (p.Ser952=)
c.2886C>T (p.Ser962=)
c.2883C>T (p.Ser961=)
n.290C>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56904398C>ACA396002203SLC12A3c.2860C>A (p.Leu954Ile)
c.2857C>A (p.Leu953Ile)
c.2887C>A (p.Leu963Ile)
c.2884C>A (p.Leu962Ile)
n.291C>A
16g.56904398C>GCA396002211SLC12A3c.2860C>G (p.Leu954Val)
c.2857C>G (p.Leu953Val)
c.2887C>G (p.Leu963Val)
c.2884C>G (p.Leu962Val)
n.291C>G
16g.56904398C>TCA396002207SLC12A3c.2860C>T (p.Leu954Phe)
c.2857C>T (p.Leu953Phe)
c.2887C>T (p.Leu963Phe)
c.2884C>T (p.Leu962Phe)
n.291C>T
16g.56904399T>ACA396002217SLC12A3c.2861T>A (p.Leu954His)
c.2858T>A (p.Leu953His)
c.2888T>A (p.Leu963His)
c.2885T>A (p.Leu962His)
n.292T>A
16g.56904399T>CCA396002219SLC12A3c.2861T>C (p.Leu954Pro)
c.2858T>C (p.Leu953Pro)
c.2888T>C (p.Leu963Pro)
c.2885T>C (p.Leu962Pro)
n.292T>C
16g.56904399T>GCA396002223SLC12A3c.2861T>G (p.Leu954Arg)
c.2858T>G (p.Leu953Arg)
c.2888T>G (p.Leu963Arg)
c.2885T>G (p.Leu962Arg)
n.292T>G
16g.56904400T>ACA495613548SLC12A3c.2862T>A (p.Leu954=)
c.2859T>A (p.Leu953=)
c.2889T>A (p.Leu963=)
c.2886T>A (p.Leu962=)
n.293T>A
16g.56904400T>CCA495613547SLC12A3c.2862T>C (p.Leu954=)
c.2859T>C (p.Leu953=)
c.2889T>C (p.Leu963=)
c.2886T>C (p.Leu962=)
n.293T>C
16g.56904400T>GCA495613546SLC12A3c.2862T>G (p.Leu954=)
c.2859T>G (p.Leu953=)
c.2889T>G (p.Leu963=)
c.2886T>G (p.Leu962=)
n.293T>G
16g.56904401C>ACA495613549SLC12A3c.2863C>A (p.Arg955=)
c.2860C>A (p.Arg954=)
c.2890C>A (p.Arg964=)
c.2887C>A (p.Arg963=)
n.294C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56904401C=CA2224365726SLC12A3c.2863C= (p.Arg955=)
c.2860C= (p.Arg954=)
c.2890C= (p.Arg964=)
c.2887C= (p.Arg963=)
n.294C=
16g.56904401C>GCA396002228SLC12A3c.2863C>G (p.Arg955Gly)
c.2860C>G (p.Arg954Gly)
c.2890C>G (p.Arg964Gly)
c.2887C>G (p.Arg963Gly)
n.294C>G
16g.56904401C>TCA8070131SLC12A3c.2863C>T (p.Arg955Trp)
c.2860C>T (p.Arg954Trp)
c.2890C>T (p.Arg964Trp)
c.2887C>T (p.Arg963Trp)
n.294C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904402G>ACA8070132SLC12A3c.2864G>A (p.Arg955Gln)
c.2861G>A (p.Arg954Gln)
c.2891G>A (p.Arg964Gln)
c.2888G>A (p.Arg963Gln)
n.295G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904402G>CCA396002234SLC12A3c.2864G>C (p.Arg955Pro)
c.2861G>C (p.Arg954Pro)
c.2891G>C (p.Arg964Pro)
c.2888G>C (p.Arg963Pro)
n.295G>C
ClinVar
16g.56904402G=CA2224365727SLC12A3c.2864G= (p.Arg955=)
c.2861G= (p.Arg954=)
c.2891G= (p.Arg964=)
c.2888G= (p.Arg963=)
n.295G=
16g.56904402G>TCA396002236SLC12A3c.2864G>T (p.Arg955Leu)
c.2861G>T (p.Arg954Leu)
c.2891G>T (p.Arg964Leu)
c.2888G>T (p.Arg963Leu)
n.295G>T
16g.56904404_56904407dupCA2633380547SLC12A3c.2866_2869dup (p.Val957AlafsTer6)
c.2863_2866dup (p.Val956AlafsTer6)
c.2893_2896dup (p.Val966AlafsTer6)
c.2890_2893dup (p.Val965AlafsTer6)
n.297_300dup
gnomAD v4
16g.56904403G>ACA495613550SLC12A3c.2865G>A (p.Arg955=)
c.2862G>A (p.Arg954=)
c.2892G>A (p.Arg964=)
c.2889G>A (p.Arg963=)
n.296G>A
16g.56904403G>CCA495613551SLC12A3c.2865G>C (p.Arg955=)
c.2862G>C (p.Arg954=)
c.2892G>C (p.Arg964=)
c.2889G>C (p.Arg963=)
n.296G>C
16g.56904403G>TCA495613552SLC12A3c.2865G>T (p.Arg955=)
c.2862G>T (p.Arg954=)
c.2892G>T (p.Arg964=)
c.2889G>T (p.Arg963=)
n.296G>T
dbSNP
16g.56904404C>ACA396002240SLC12A3c.2866C>A (p.Gln956Lys)
c.2863C>A (p.Gln955Lys)
c.2893C>A (p.Gln965Lys)
c.2890C>A (p.Gln964Lys)
n.297C>A
16g.56904404C=CA2224365728SLC12A3c.2866C= (p.Gln956=)
c.2863C= (p.Gln955=)
c.2893C= (p.Gln965=)
c.2890C= (p.Gln964=)
n.297C=
16g.56904404C>GCA396002241SLC12A3c.2866C>G (p.Gln956Glu)
c.2863C>G (p.Gln955Glu)
c.2893C>G (p.Gln965Glu)
c.2890C>G (p.Gln964Glu)
n.297C>G
ClinVar
16g.56904404C>TCA8070133SLC12A3c.2866C>T (p.Gln956Ter)
c.2863C>T (p.Gln955Ter)
c.2893C>T (p.Gln965Ter)
c.2890C>T (p.Gln964Ter)
n.297C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56904405A=CA2224365729SLC12A3c.2867A= (p.Gln956=)
c.2864A= (p.Gln955=)
c.2894A= (p.Gln965=)
c.2891A= (p.Gln964=)
n.298A=
16g.56904405A>CCA281521274SLC12A3c.2867A>C (p.Gln956Pro)
c.2864A>C (p.Gln955Pro)
c.2894A>C (p.Gln965Pro)
c.2891A>C (p.Gln964Pro)
n.298A>C
dbSNP gnomAD v3 gnomAD v4
16g.56904405A>GCA396002262SLC12A3c.2867A>G (p.Gln956Arg)
c.2864A>G (p.Gln955Arg)
c.2894A>G (p.Gln965Arg)
c.2891A>G (p.Gln964Arg)
n.298A>G
gnomAD v4 COSMIC
16g.56904405A>TCA396002259SLC12A3c.2867A>T (p.Gln956Leu)
c.2864A>T (p.Gln955Leu)
c.2894A>T (p.Gln965Leu)
c.2891A>T (p.Gln964Leu)
n.298A>T
16g.56904406G>ACA495613553SLC12A3c.2868G>A (p.Gln956=)
c.2865G>A (p.Gln955=)
c.2895G>A (p.Gln965=)
c.2892G>A (p.Gln964=)
n.299G>A
16g.56904406G>CCA396002265SLC12A3c.2868G>C (p.Gln956His)
c.2865G>C (p.Gln955His)
c.2895G>C (p.Gln965His)
c.2892G>C (p.Gln964His)
n.299G>C
16g.56904406G>TCA396002267SLC12A3c.2868G>T (p.Gln956His)
c.2865G>T (p.Gln955His)
c.2895G>T (p.Gln965His)
c.2892G>T (p.Gln964His)
n.299G>T
16g.56904407G>ACA396002268SLC12A3c.2869G>A (p.Val957Met)
c.2866G>A (p.Val956Met)
c.2896G>A (p.Val966Met)
c.2893G>A (p.Val965Met)
n.300G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56904407G>CCA396002269SLC12A3c.2869G>C (p.Val957Leu)
c.2866G>C (p.Val956Leu)
c.2896G>C (p.Val966Leu)
c.2893G>C (p.Val965Leu)
n.300G>C
16g.56904407G=CA2224365730SLC12A3c.2869G= (p.Val957=)
c.2866G= (p.Val956=)
c.2896G= (p.Val966=)
c.2893G= (p.Val965=)
n.300G=
16g.56904407G>TCA396002270SLC12A3c.2869G>T (p.Val957Leu)
c.2866G>T (p.Val956Leu)
c.2896G>T (p.Val966Leu)
c.2893G>T (p.Val965Leu)
n.300G>T
16g.56904408T>ACA396002272SLC12A3c.2870T>A (p.Val957Glu)
c.2867T>A (p.Val956Glu)
c.2897T>A (p.Val966Glu)
c.2894T>A (p.Val965Glu)
n.301T>A
16g.56904408T>CCA396002275SLC12A3c.2870T>C (p.Val957Ala)
c.2867T>C (p.Val956Ala)
c.2897T>C (p.Val966Ala)
c.2894T>C (p.Val965Ala)
n.301T>C
16g.56904408T>GCA8070134SLC12A3c.2870T>G (p.Val957Gly)
c.2867T>G (p.Val956Gly)
c.2897T>G (p.Val966Gly)
c.2894T>G (p.Val965Gly)
n.301T>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56904408T=CA2224365731SLC12A3c.2870T= (p.Val957=)
c.2867T= (p.Val956=)
c.2897T= (p.Val966=)
c.2894T= (p.Val965=)
n.301T=
16g.56904409G>ACA495613554SLC12A3c.2871G>A (p.Val957=)
c.2868G>A (p.Val956=)
c.2898G>A (p.Val966=)
c.2895G>A (p.Val965=)
n.302G>A
gnomAD v4
16g.56904409G>CCA495613555SLC12A3c.2871G>C (p.Val957=)
c.2868G>C (p.Val956=)
c.2898G>C (p.Val966=)
c.2895G>C (p.Val965=)
n.302G>C
16g.56904409G>TCA495613556SLC12A3c.2871G>T (p.Val957=)
c.2868G>T (p.Val956=)
c.2898G>T (p.Val966=)
c.2895G>T (p.Val965=)
n.302G>T
16g.56904410A=CA2224365732SLC12A3c.2872A= (p.Arg958=)
c.2869A= (p.Arg957=)
c.2899A= (p.Arg967=)
c.2896A= (p.Arg966=)
n.303A=
16g.56904410A>CCA495613557SLC12A3c.2872A>C (p.Arg958=)
c.2869A>C (p.Arg957=)
c.2899A>C (p.Arg967=)
c.2896A>C (p.Arg966=)
n.303A>C
gnomAD v4
16g.56904410A>GCA8070135SLC12A3c.2872A>G (p.Arg958Gly)
c.2869A>G (p.Arg957Gly)
c.2899A>G (p.Arg967Gly)
c.2896A>G (p.Arg966Gly)
n.303A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904410A>TCA396002276SLC12A3c.2872A>T (p.Arg958Trp)
c.2869A>T (p.Arg957Trp)
c.2899A>T (p.Arg967Trp)
c.2896A>T (p.Arg966Trp)
n.303A>T
ClinVar dbSNP gnomAD v4
16g.56904411G>ACA396002279SLC12A3c.2873G>A (p.Arg958Lys)
c.2870G>A (p.Arg957Lys)
c.2900G>A (p.Arg967Lys)
c.2897G>A (p.Arg966Lys)
n.304G>A
16g.56904411G>CCA396002280SLC12A3c.2873G>C (p.Arg958Thr)
c.2870G>C (p.Arg957Thr)
c.2900G>C (p.Arg967Thr)
c.2897G>C (p.Arg966Thr)
n.304G>C
16g.56904411G>TCA396002282SLC12A3c.2873G>T (p.Arg958Met)
c.2870G>T (p.Arg957Met)
c.2900G>T (p.Arg967Met)
c.2897G>T (p.Arg966Met)
n.304G>T
16g.56904412delCA2633380608SLC12A3c.2874del (p.Arg958SerfsTer2)
c.2871del (p.Arg957SerfsTer2)
c.2901del (p.Arg967SerfsTer2)
c.2898del (p.Arg966SerfsTer2)
n.305del
ClinVar gnomAD v4
16g.56904412G>ACA495613558SLC12A3c.2874G>A (p.Arg958=)
c.2871G>A (p.Arg957=)
c.2901G>A (p.Arg967=)
c.2898G>A (p.Arg966=)
n.305G>A
16g.56904412G>CCA396002285SLC12A3c.2874G>C (p.Arg958Ser)
c.2871G>C (p.Arg957Ser)
c.2901G>C (p.Arg967Ser)
c.2898G>C (p.Arg966Ser)
n.305G>C
16g.56904412G>TCA396002287SLC12A3c.2874G>T (p.Arg958Ser)
c.2871G>T (p.Arg957Ser)
c.2901G>T (p.Arg967Ser)
c.2898G>T (p.Arg966Ser)
n.305G>T
16g.56904413C>ACA396002288SLC12A3c.2875C>A (p.Leu959Met)
c.2872C>A (p.Leu958Met)
c.2902C>A (p.Leu968Met)
c.2899C>A (p.Leu967Met)
n.306C>A
16g.56904413C=CA2224365733SLC12A3c.2875C= (p.Leu959=)
c.2872C= (p.Leu958=)
c.2902C= (p.Leu968=)
c.2899C= (p.Leu967=)
n.306C=
16g.56904413C>GCA396002289SLC12A3c.2875C>G (p.Leu959Val)
c.2872C>G (p.Leu958Val)
c.2902C>G (p.Leu968Val)
c.2899C>G (p.Leu967Val)
n.306C>G
16g.56904413C>TCA8070136SLC12A3c.2875C>T (p.Leu959=)
c.2872C>T (p.Leu958=)
c.2902C>T (p.Leu968=)
c.2899C>T (p.Leu967=)
n.306C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904414T>ACA396002292SLC12A3c.2876T>A (p.Leu959Gln)
c.2873T>A (p.Leu958Gln)
c.2903T>A (p.Leu968Gln)
c.2900T>A (p.Leu967Gln)
n.307T>A
16g.56904414T>CCA396002299SLC12A3c.2876T>C (p.Leu959Pro)
c.2873T>C (p.Leu958Pro)
c.2903T>C (p.Leu968Pro)
c.2900T>C (p.Leu967Pro)
n.307T>C
16g.56904414T>GCA396002300SLC12A3c.2876T>G (p.Leu959Arg)
c.2873T>G (p.Leu958Arg)
c.2903T>G (p.Leu968Arg)
c.2900T>G (p.Leu967Arg)
n.307T>G
16g.56904415G>ACA495613559SLC12A3c.2877G>A (p.Leu959=)
c.2874G>A (p.Leu958=)
c.2904G>A (p.Leu968=)
c.2901G>A (p.Leu967=)
n.308G>A
dbSNP gnomAD v2
16g.56904415G>CCA495613560SLC12A3c.2877G>C (p.Leu959=)
c.2874G>C (p.Leu958=)
c.2904G>C (p.Leu968=)
c.2901G>C (p.Leu967=)
n.308G>C
16g.56904415G=CA2224365734SLC12A3c.2877G= (p.Leu959=)
c.2874G= (p.Leu958=)
c.2904G= (p.Leu968=)
c.2901G= (p.Leu967=)
n.308G=
16g.56904415G>TCA495613561SLC12A3c.2877G>T (p.Leu959=)
c.2874G>T (p.Leu958=)
c.2904G>T (p.Leu968=)
c.2901G>T (p.Leu967=)
n.308G>T
gnomAD v4
16g.56904416A>CCA396002305SLC12A3c.2878A>C (p.Asn960His)
c.2875A>C (p.Asn959His)
c.2905A>C (p.Asn969His)
c.2902A>C (p.Asn968His)
n.309A>C
16g.56904416A>GCA396002313SLC12A3c.2878A>G (p.Asn960Asp)
c.2875A>G (p.Asn959Asp)
c.2905A>G (p.Asn969Asp)
c.2902A>G (p.Asn968Asp)
n.309A>G
16g.56904416A>TCA396002316SLC12A3c.2878A>T (p.Asn960Tyr)
c.2875A>T (p.Asn959Tyr)
c.2905A>T (p.Asn969Tyr)
c.2902A>T (p.Asn968Tyr)
n.309A>T
16g.56904417A>CCA396002319SLC12A3c.2879A>C (p.Asn960Thr)
c.2876A>C (p.Asn959Thr)
c.2906A>C (p.Asn969Thr)
c.2903A>C (p.Asn968Thr)
n.310A>C
16g.56904417A>GCA396002320SLC12A3c.2879A>G (p.Asn960Ser)
c.2876A>G (p.Asn959Ser)
c.2906A>G (p.Asn969Ser)
c.2903A>G (p.Asn968Ser)
n.310A>G
16g.56904417A>TCA396002323SLC12A3c.2879A>T (p.Asn960Ile)
c.2876A>T (p.Asn959Ile)
c.2906A>T (p.Asn969Ile)
c.2903A>T (p.Asn968Ile)
n.310A>T
16g.56904418T>ACA396002325SLC12A3c.2880T>A (p.Asn960Lys)
c.2877T>A (p.Asn959Lys)
c.2907T>A (p.Asn969Lys)
c.2904T>A (p.Asn968Lys)
n.311T>A
16g.56904418T>CCA495613562SLC12A3c.2880T>C (p.Asn960=)
c.2877T>C (p.Asn959=)
c.2907T>C (p.Asn969=)
c.2904T>C (p.Asn968=)
n.311T>C
16g.56904418T>GCA396002327SLC12A3c.2880T>G (p.Asn960Lys)
c.2877T>G (p.Asn959Lys)
c.2907T>G (p.Asn969Lys)
c.2904T>G (p.Asn968Lys)
n.311T>G
gnomAD v4
16g.56904419G>ACA396002332SLC12A3c.2881G>A (p.Glu961Lys)
c.2878G>A (p.Glu960Lys)
c.2908G>A (p.Glu970Lys)
c.2905G>A (p.Glu969Lys)
n.312G>A
gnomAD v4
16g.56904419G>CCA396002336SLC12A3c.2881G>C (p.Glu961Gln)
c.2878G>C (p.Glu960Gln)
c.2908G>C (p.Glu970Gln)
c.2905G>C (p.Glu969Gln)
n.312G>C
16g.56904419G>TCA396002335SLC12A3c.2881G>T (p.Glu961Ter)
c.2878G>T (p.Glu960Ter)
c.2908G>T (p.Glu970Ter)
c.2905G>T (p.Glu969Ter)
n.312G>T
16g.56904420A>CCA396002337SLC12A3c.2882A>C (p.Glu961Ala)
c.2879A>C (p.Glu960Ala)
c.2909A>C (p.Glu970Ala)
c.2906A>C (p.Glu969Ala)
n.313A>C
16g.56904420A>GCA396002338SLC12A3c.2882A>G (p.Glu961Gly)
c.2879A>G (p.Glu960Gly)
c.2909A>G (p.Glu970Gly)
c.2906A>G (p.Glu969Gly)
n.313A>G
16g.56904420A>TCA396002339SLC12A3c.2882A>T (p.Glu961Val)
c.2879A>T (p.Glu960Val)
c.2909A>T (p.Glu970Val)
c.2906A>T (p.Glu969Val)
n.313A>T
16g.56904421G>ACA495613563SLC12A3c.2883G>A (p.Glu961=)
c.2880G>A (p.Glu960=)
c.2910G>A (p.Glu970=)
c.2907G>A (p.Glu969=)
n.314G>A
16g.56904421G>CCA396002340SLC12A3c.2883G>C (p.Glu961Asp)
c.2880G>C (p.Glu960Asp)
c.2910G>C (p.Glu970Asp)
c.2907G>C (p.Glu969Asp)
n.314G>C
16g.56904421G>TCA396002343SLC12A3c.2883G>T (p.Glu961Asp)
c.2880G>T (p.Glu960Asp)
c.2910G>T (p.Glu970Asp)
c.2907G>T (p.Glu969Asp)
n.314G>T
16g.56904422A=CA2224365735SLC12A3c.2884A= (p.Ile962=)
c.2881A= (p.Ile961=)
c.2911A= (p.Ile971=)
c.2908A= (p.Ile970=)
n.315A=
16g.56904422A>CCA396002345SLC12A3c.2884A>C (p.Ile962Leu)
c.2881A>C (p.Ile961Leu)
c.2911A>C (p.Ile971Leu)
c.2908A>C (p.Ile970Leu)
n.315A>C
16g.56904422A>GCA396002347SLC12A3c.2884A>G (p.Ile962Val)
c.2881A>G (p.Ile961Val)
c.2911A>G (p.Ile971Val)
c.2908A>G (p.Ile970Val)
n.315A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56904422A>TCA396002350SLC12A3c.2884A>T (p.Ile962Phe)
c.2881A>T (p.Ile961Phe)
c.2911A>T (p.Ile971Phe)
c.2908A>T (p.Ile970Phe)
n.315A>T
16g.56904423T>ACA396002355SLC12A3c.2885T>A (p.Ile962Asn)
c.2882T>A (p.Ile961Asn)
c.2912T>A (p.Ile971Asn)
c.2909T>A (p.Ile970Asn)
n.316T>A
16g.56904423T>CCA396002356SLC12A3c.2885T>C (p.Ile962Thr)
c.2882T>C (p.Ile961Thr)
c.2912T>C (p.Ile971Thr)
c.2909T>C (p.Ile970Thr)
n.316T>C
16g.56904423T>GCA396002358SLC12A3c.2885T>G (p.Ile962Ser)
c.2882T>G (p.Ile961Ser)
c.2912T>G (p.Ile971Ser)
c.2909T>G (p.Ile970Ser)
n.316T>G
COSMIC
16g.56904424T>ACA495613564SLC12A3c.2886T>A (p.Ile962=)
c.2883T>A (p.Ile961=)
c.2913T>A (p.Ile971=)
c.2910T>A (p.Ile970=)
n.317T>A
16g.56904424T>CCA495613565SLC12A3c.2886T>C (p.Ile962=)
c.2883T>C (p.Ile961=)
c.2913T>C (p.Ile971=)
c.2910T>C (p.Ile970=)
n.317T>C
16g.56904424T>GCA396002361SLC12A3c.2886T>G (p.Ile962Met)
c.2883T>G (p.Ile961Met)
c.2913T>G (p.Ile971Met)
c.2910T>G (p.Ile970Met)
n.317T>G
16g.56904425G>ACA396002365SLC12A3c.2887G>A (p.Val963Met)
c.2884G>A (p.Val962Met)
c.2914G>A (p.Val972Met)
c.2911G>A (p.Val971Met)
n.318G>A
dbSNP gnomAD v3 gnomAD v4
16g.56904425G>CCA396002362SLC12A3c.2887G>C (p.Val963Leu)
c.2884G>C (p.Val962Leu)
c.2914G>C (p.Val972Leu)
c.2911G>C (p.Val971Leu)
n.318G>C
dbSNP
16g.56904425G=CA2224365736SLC12A3c.2887G= (p.Val963=)
c.2884G= (p.Val962=)
c.2914G= (p.Val972=)
c.2911G= (p.Val971=)
n.318G=
16g.56904425G>TCA396002363SLC12A3c.2887G>T (p.Val963Leu)
c.2884G>T (p.Val962Leu)
c.2914G>T (p.Val972Leu)
c.2911G>T (p.Val971Leu)
n.318G>T
16g.56904426T>ACA396002367SLC12A3c.2888T>A (p.Val963Glu)
c.2885T>A (p.Val962Glu)
c.2915T>A (p.Val972Glu)
c.2912T>A (p.Val971Glu)
n.319T>A
16g.56904426T>CCA396002368SLC12A3c.2888T>C (p.Val963Ala)
c.2885T>C (p.Val962Ala)
c.2915T>C (p.Val972Ala)
c.2912T>C (p.Val971Ala)
n.319T>C
16g.56904426T>GCA396002372SLC12A3c.2888T>G (p.Val963Gly)
c.2885T>G (p.Val962Gly)
c.2915T>G (p.Val972Gly)
c.2912T>G (p.Val971Gly)
n.319T>G
16g.56904427G>ACA495613567SLC12A3c.2889G>A (p.Val963=)
c.2886G>A (p.Val962=)
c.2916G>A (p.Val972=)
c.2913G>A (p.Val971=)
n.320G>A
16g.56904427G>CCA495613568SLC12A3c.2889G>C (p.Val963=)
c.2886G>C (p.Val962=)
c.2916G>C (p.Val972=)
c.2913G>C (p.Val971=)
n.320G>C
16g.56904427G=CA2224365737SLC12A3c.2889G= (p.Val963=)
c.2886G= (p.Val962=)
c.2916G= (p.Val972=)
c.2913G= (p.Val971=)
n.320G=
16g.56904427G>TCA495613569SLC12A3c.2889G>T (p.Val963=)
c.2886G>T (p.Val962=)
c.2916G>T (p.Val972=)
c.2913G>T (p.Val971=)
n.320G>T
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.56904428C>ACA396002374SLC12A3c.2890C>A (p.Leu964Met)
c.2887C>A (p.Leu963Met)
c.2917C>A (p.Leu973Met)
c.2914C>A (p.Leu972Met)
n.321C>A
16g.56904428C=CA2224365738SLC12A3c.2890C= (p.Leu964=)
c.2887C= (p.Leu963=)
c.2917C= (p.Leu973=)
c.2914C= (p.Leu972=)
n.321C=
16g.56904428C>GCA396002376SLC12A3c.2890C>G (p.Leu964Val)
c.2887C>G (p.Leu963Val)
c.2917C>G (p.Leu973Val)
c.2914C>G (p.Leu972Val)
n.321C>G
16g.56904428C>TCA495613570SLC12A3c.2890C>T (p.Leu964=)
c.2887C>T (p.Leu963=)
c.2917C>T (p.Leu973=)
c.2914C>T (p.Leu972=)
n.321C>T
ClinVar dbSNP
16g.56904429T>ACA396002380SLC12A3c.2891T>A (p.Leu964Gln)
c.2888T>A (p.Leu963Gln)
c.2918T>A (p.Leu973Gln)
c.2915T>A (p.Leu972Gln)
n.322T>A
16g.56904429T>CCA396002394SLC12A3c.2891T>C (p.Leu964Pro)
c.2888T>C (p.Leu963Pro)
c.2918T>C (p.Leu973Pro)
c.2915T>C (p.Leu972Pro)
n.322T>C
dbSNP
16g.56904429T>GCA396002396SLC12A3c.2891T>G (p.Leu964Arg)
c.2888T>G (p.Leu963Arg)
c.2918T>G (p.Leu973Arg)
c.2915T>G (p.Leu972Arg)
n.322T>G
16g.56904429T=CA2224365739SLC12A3c.2891T= (p.Leu964=)
c.2888T= (p.Leu963=)
c.2918T= (p.Leu973=)
c.2915T= (p.Leu972=)
n.322T=
16g.56904430G>ACA495613571SLC12A3c.2892G>A (p.Leu964=)
c.2889G>A (p.Leu963=)
c.2919G>A (p.Leu973=)
c.2916G>A (p.Leu972=)
n.323G>A
16g.56904430G>CCA495613572SLC12A3c.2892G>C (p.Leu964=)
c.2889G>C (p.Leu963=)
c.2919G>C (p.Leu973=)
c.2916G>C (p.Leu972=)
n.323G>C
16g.56904430G>TCA495613573SLC12A3c.2892G>T (p.Leu964=)
c.2889G>T (p.Leu963=)
c.2919G>T (p.Leu973=)
c.2916G>T (p.Leu972=)
n.323G>T
16g.56904431G>ACA396002400SLC12A3c.2893G>A (p.Asp965Asn)
c.2890G>A (p.Asp964Asn)
c.2920G>A (p.Asp974Asn)
c.2917G>A (p.Asp973Asn)
n.324G>A
16g.56904431G>CCA396002402SLC12A3c.2893G>C (p.Asp965His)
c.2890G>C (p.Asp964His)
c.2920G>C (p.Asp974His)
c.2917G>C (p.Asp973His)
n.324G>C
16g.56904431G=CA2224365740SLC12A3c.2893G= (p.Asp965=)
c.2890G= (p.Asp964=)
c.2920G= (p.Asp974=)
c.2917G= (p.Asp973=)
n.324G=
16g.56904431G>TCA8070137SLC12A3c.2893G>T (p.Asp965Tyr)
c.2890G>T (p.Asp964Tyr)
c.2920G>T (p.Asp974Tyr)
c.2917G>T (p.Asp973Tyr)
n.324G>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56904432A=CA2224365741SLC12A3c.2894A= (p.Asp965=)
c.2891A= (p.Asp964=)
c.2921A= (p.Asp974=)
c.2918A= (p.Asp973=)
n.325A=
16g.56904432A>CCA396002412SLC12A3c.2894A>C (p.Asp965Ala)
c.2891A>C (p.Asp964Ala)
c.2921A>C (p.Asp974Ala)
c.2918A>C (p.Asp973Ala)
n.325A>C
16g.56904432A>GCA396002411SLC12A3c.2894A>G (p.Asp965Gly)
c.2891A>G (p.Asp964Gly)
c.2921A>G (p.Asp974Gly)
c.2918A>G (p.Asp973Gly)
n.325A>G
dbSNP
16g.56904432A>TCA396002409SLC12A3c.2894A>T (p.Asp965Val)
c.2891A>T (p.Asp964Val)
c.2921A>T (p.Asp974Val)
c.2918A>T (p.Asp973Val)
n.325A>T
16g.56904433T>ACA396002414SLC12A3c.2895T>A (p.Asp965Glu)
c.2892T>A (p.Asp964Glu)
c.2922T>A (p.Asp974Glu)
c.2919T>A (p.Asp973Glu)
n.326T>A
16g.56904433T>CCA495613575SLC12A3c.2895T>C (p.Asp965=)
c.2892T>C (p.Asp964=)
c.2922T>C (p.Asp974=)
c.2919T>C (p.Asp973=)
n.326T>C
16g.56904433T>GCA396002417SLC12A3c.2895T>G (p.Asp965Glu)
c.2892T>G (p.Asp964Glu)
c.2922T>G (p.Asp974Glu)
c.2919T>G (p.Asp973Glu)
n.326T>G
16g.56904434T>ACA396002420SLC12A3c.2896T>A (p.Tyr966Asn)
c.2893T>A (p.Tyr965Asn)
c.2923T>A (p.Tyr975Asn)
c.2920T>A (p.Tyr974Asn)
n.327T>A
16g.56904434T>CCA396002422SLC12A3c.2896T>C (p.Tyr966His)
c.2893T>C (p.Tyr965His)
c.2923T>C (p.Tyr975His)
c.2920T>C (p.Tyr974His)
n.327T>C
16g.56904434T>GCA396002421SLC12A3c.2896T>G (p.Tyr966Asp)
c.2893T>G (p.Tyr965Asp)
c.2923T>G (p.Tyr975Asp)
c.2920T>G (p.Tyr974Asp)
n.327T>G
16g.56904435A=CA2224365742SLC12A3c.2897A= (p.Tyr966=)
c.2894A= (p.Tyr965=)
c.2924A= (p.Tyr975=)
c.2921A= (p.Tyr974=)
n.328A=
16g.56904435A>CCA396002423SLC12A3c.2897A>C (p.Tyr966Ser)
c.2894A>C (p.Tyr965Ser)
c.2924A>C (p.Tyr975Ser)
c.2921A>C (p.Tyr974Ser)
n.328A>C
16g.56904435A>GCA396002425SLC12A3c.2897A>G (p.Tyr966Cys)
c.2894A>G (p.Tyr965Cys)
c.2924A>G (p.Tyr975Cys)
c.2921A>G (p.Tyr974Cys)
n.328A>G
16g.56904435A>TCA8070138SLC12A3c.2897A>T (p.Tyr966Phe)
c.2894A>T (p.Tyr965Phe)
c.2924A>T (p.Tyr975Phe)
c.2921A>T (p.Tyr974Phe)
n.328A>T
dbSNP ExAC gnomAD v2
16g.56904436C>ACA396002426SLC12A3c.2898C>A (p.Tyr966Ter)
c.2895C>A (p.Tyr965Ter)
c.2925C>A (p.Tyr975Ter)
c.2922C>A (p.Tyr974Ter)
n.329C>A
16g.56904436C>GCA396002427SLC12A3c.2898C>G (p.Tyr966Ter)
c.2895C>G (p.Tyr965Ter)
c.2925C>G (p.Tyr975Ter)
c.2922C>G (p.Tyr974Ter)
n.329C>G
16g.56904436C>TCA495613578SLC12A3c.2898C>T (p.Tyr966=)
c.2895C>T (p.Tyr965=)
c.2925C>T (p.Tyr975=)
c.2922C>T (p.Tyr974=)
n.329C>T
ClinVar
16g.56904437T>ACA396002432SLC12A3c.2899T>A (p.Ser967Thr)
c.2896T>A (p.Ser966Thr)
c.2926T>A (p.Ser976Thr)
c.2923T>A (p.Ser975Thr)
n.330T>A
ClinVar
16g.56904437T>CCA396002430SLC12A3c.2899T>C (p.Ser967Pro)
c.2896T>C (p.Ser966Pro)
c.2926T>C (p.Ser976Pro)
c.2923T>C (p.Ser975Pro)
n.330T>C
16g.56904437T>GCA396002428SLC12A3c.2899T>G (p.Ser967Ala)
c.2896T>G (p.Ser966Ala)
c.2926T>G (p.Ser976Ala)
c.2923T>G (p.Ser975Ala)
n.330T>G
16g.56904438C>ACA396002437SLC12A3c.2900C>A (p.Ser967Tyr)
c.2897C>A (p.Ser966Tyr)
c.2927C>A (p.Ser976Tyr)
c.2924C>A (p.Ser975Tyr)
n.331C>A
16g.56904438C=CA2224365743SLC12A3c.2900C= (p.Ser967=)
c.2897C= (p.Ser966=)
c.2927C= (p.Ser976=)
c.2924C= (p.Ser975=)
n.331C=
16g.56904438C>GCA396002439SLC12A3c.2900C>G (p.Ser967Cys)
c.2897C>G (p.Ser966Cys)
c.2927C>G (p.Ser976Cys)
c.2924C>G (p.Ser975Cys)
n.331C>G
16g.56904438C>TCA8070139SLC12A3c.2900C>T (p.Ser967Phe)
c.2897C>T (p.Ser966Phe)
c.2927C>T (p.Ser976Phe)
c.2924C>T (p.Ser975Phe)
n.331C>T
ClinVar dbSNP ExAC gnomAD v4
16g.56904439C>ACA495613580SLC12A3c.2901C>A (p.Ser967=)
c.2898C>A (p.Ser966=)
c.2928C>A (p.Ser976=)
c.2925C>A (p.Ser975=)
n.332C>A
16g.56904439C>GCA495613581SLC12A3c.2901C>G (p.Ser967=)
c.2898C>G (p.Ser966=)
c.2928C>G (p.Ser976=)
c.2925C>G (p.Ser975=)
n.332C>G
16g.56904439C>TCA495613582SLC12A3c.2901C>T (p.Ser967=)
c.2898C>T (p.Ser966=)
c.2928C>T (p.Ser976=)
c.2925C>T (p.Ser975=)
n.332C>T
16g.56904440C>ACA8070140SLC12A3c.2902C>A (p.Arg968=)
c.2899C>A (p.Arg967=)
c.2929C>A (p.Arg977=)
c.2926C>A (p.Arg976=)
n.333C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904440C=CA2224365744SLC12A3c.2902C= (p.Arg968=)
c.2899C= (p.Arg967=)
c.2929C= (p.Arg977=)
c.2926C= (p.Arg976=)
n.333C=
16g.56904440C>GCA396002445SLC12A3c.2902C>G (p.Arg968Gly)
c.2899C>G (p.Arg967Gly)
c.2929C>G (p.Arg977Gly)
c.2926C>G (p.Arg976Gly)
n.333C>G
16g.56904440C>TCA8070141SLC12A3c.2902C>T (p.Arg968Ter)
c.2899C>T (p.Arg967Ter)
c.2929C>T (p.Arg977Ter)
c.2926C>T (p.Arg976Ter)
n.333C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904441G>ACA8070142SLC12A3c.2903G>A (p.Arg968Gln)
c.2900G>A (p.Arg967Gln)
c.2930G>A (p.Arg977Gln)
c.2927G>A (p.Arg976Gln)
n.334G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904441G>CCA396002450SLC12A3c.2903G>C (p.Arg968Pro)
c.2900G>C (p.Arg967Pro)
c.2930G>C (p.Arg977Pro)
c.2927G>C (p.Arg976Pro)
n.334G>C
dbSNP gnomAD v3 gnomAD v4
16g.56904441G=CA2224365745SLC12A3c.2903G= (p.Arg968=)
c.2900G= (p.Arg967=)
c.2930G= (p.Arg977=)
c.2927G= (p.Arg976=)
n.334G=
16g.56904441G>TCA396002455SLC12A3c.2903G>T (p.Arg968Leu)
c.2900G>T (p.Arg967Leu)
c.2930G>T (p.Arg977Leu)
c.2927G>T (p.Arg976Leu)
n.334G>T
16g.56904442A>CCA495613584SLC12A3c.2904A>C (p.Arg968=)
c.2901A>C (p.Arg967=)
c.2931A>C (p.Arg977=)
c.2928A>C (p.Arg976=)
n.335A>C
gnomAD v4
16g.56904442A>GCA495613585SLC12A3c.2904A>G (p.Arg968=)
c.2901A>G (p.Arg967=)
c.2931A>G (p.Arg977=)
c.2928A>G (p.Arg976=)
n.335A>G
16g.56904442A>TCA495613586SLC12A3c.2904A>T (p.Arg968=)
c.2901A>T (p.Arg967=)
c.2931A>T (p.Arg977=)
c.2928A>T (p.Arg976=)
n.335A>T
16g.56904443G>ACA396002465SLC12A3c.2905G>A (p.Asp969Asn)
c.2902G>A (p.Asp968Asn)
c.2932G>A (p.Asp978Asn)
c.2929G>A (p.Asp977Asn)
n.336G>A
dbSNP
16g.56904443G>CCA396002468SLC12A3c.2905G>C (p.Asp969His)
c.2902G>C (p.Asp968His)
c.2932G>C (p.Asp978His)
c.2929G>C (p.Asp977His)
n.336G>C
16g.56904443G=CA2224365746SLC12A3c.2905G= (p.Asp969=)
c.2902G= (p.Asp968=)
c.2932G= (p.Asp978=)
c.2929G= (p.Asp977=)
n.336G=
16g.56904443G>TCA396002472SLC12A3c.2905G>T (p.Asp969Tyr)
c.2902G>T (p.Asp968Tyr)
c.2932G>T (p.Asp978Tyr)
c.2929G>T (p.Asp977Tyr)
n.336G>T
16g.56904444A=CA2224365748SLC12A3c.2906A= (p.Asp969=)
c.2903A= (p.Asp968=)
c.2933A= (p.Asp978=)
c.2930A= (p.Asp977=)
n.337A=
16g.56904444A>CCA396002477SLC12A3c.2906A>C (p.Asp969Ala)
c.2903A>C (p.Asp968Ala)
c.2933A>C (p.Asp978Ala)
c.2930A>C (p.Asp977Ala)
n.337A>C
16g.56904444A>GCA396002479SLC12A3c.2906A>G (p.Asp969Gly)
c.2903A>G (p.Asp968Gly)
c.2933A>G (p.Asp978Gly)
c.2930A>G (p.Asp977Gly)
n.337A>G
dbSNP gnomAD v2 gnomAD v4
16g.56904444A>TCA396002481SLC12A3c.2906A>T (p.Asp969Val)
c.2903A>T (p.Asp968Val)
c.2933A>T (p.Asp978Val)
c.2930A>T (p.Asp977Val)
n.337A>T
16g.56904444_56904445delinsACCA2224365747SLC12A3c.2906_2907delinsAC (p.Asp969=)
c.2903_2904delinsAC (p.Asp968=)
c.2933_2934delinsAC (p.Asp978=)
c.2930_2931delinsAC (p.Asp977=)
n.337_338delinsAC
16g.56904445delCA721950747SLC12A3c.2907del (p.Asp969GlufsTer11)
c.2904del (p.Asp968GlufsTer11)
c.2934del (p.Asp978GlufsTer11)
c.2931del (p.Asp977GlufsTer11)
n.338del
ClinVar dbSNP
16g.56904445C>ACA396002487SLC12A3c.2907C>A (p.Asp969Glu)
c.2904C>A (p.Asp968Glu)
c.2934C>A (p.Asp978Glu)
c.2931C>A (p.Asp977Glu)
n.338C>A
16g.56904445C=CA2224365749SLC12A3c.2907C= (p.Asp969=)
c.2904C= (p.Asp968=)
c.2934C= (p.Asp978=)
c.2931C= (p.Asp977=)
n.338C=
16g.56904445C>GCA396002490SLC12A3c.2907C>G (p.Asp969Glu)
c.2904C>G (p.Asp968Glu)
c.2934C>G (p.Asp978Glu)
c.2931C>G (p.Asp977Glu)
n.338C>G
16g.56904445C>TCA8070143SLC12A3c.2907C>T (p.Asp969=)
c.2904C>T (p.Asp968=)
c.2934C>T (p.Asp978=)
c.2931C>T (p.Asp977=)
n.338C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56904446G>ACA8070144SLC12A3c.2908G>A (p.Ala970Thr)
c.2905G>A (p.Ala969Thr)
c.2935G>A (p.Ala979Thr)
c.2932G>A (p.Ala978Thr)
n.339G>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56904446G>CCA396002501SLC12A3c.2908G>C (p.Ala970Pro)
c.2905G>C (p.Ala969Pro)
c.2935G>C (p.Ala979Pro)
c.2932G>C (p.Ala978Pro)
n.339G>C
16g.56904446G=CA2224365750SLC12A3c.2908G= (p.Ala970=)
c.2905G= (p.Ala969=)
c.2935G= (p.Ala979=)
c.2932G= (p.Ala978=)
n.339G=
16g.56904446G>TCA396002505SLC12A3c.2908G>T (p.Ala970Ser)
c.2905G>T (p.Ala969Ser)
c.2935G>T (p.Ala979Ser)
c.2932G>T (p.Ala978Ser)
n.339G>T
dbSNP gnomAD v4
16g.56904447C>ACA396002511SLC12A3c.2909C>A (p.Ala970Asp)
c.2906C>A (p.Ala969Asp)
c.2936C>A (p.Ala979Asp)
c.2933C>A (p.Ala978Asp)
n.340C>A
16g.56904447C>GCA396002519SLC12A3c.2909C>G (p.Ala970Gly)
c.2906C>G (p.Ala969Gly)
c.2936C>G (p.Ala979Gly)
c.2933C>G (p.Ala978Gly)
n.340C>G
16g.56904447C>TCA396002517SLC12A3c.2909C>T (p.Ala970Val)
c.2906C>T (p.Ala969Val)
c.2936C>T (p.Ala979Val)
c.2933C>T (p.Ala978Val)
n.340C>T
16g.56904448T>ACA8070145SLC12A3c.2910T>A (p.Ala970=)
c.2907T>A (p.Ala969=)
c.2937T>A (p.Ala979=)
c.2934T>A (p.Ala978=)
n.341T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904448T>CCA281521321SLC12A3c.2910T>C (p.Ala970=)
c.2907T>C (p.Ala969=)
c.2937T>C (p.Ala979=)
c.2934T>C (p.Ala978=)
n.341T>C
dbSNP
16g.56904448T>GCA495613588SLC12A3c.2910T>G (p.Ala970=)
c.2907T>G (p.Ala969=)
c.2937T>G (p.Ala979=)
c.2934T>G (p.Ala978=)
n.341T>G
16g.56904448T=CA2224365751SLC12A3c.2910T= (p.Ala970=)
c.2907T= (p.Ala969=)
c.2937T= (p.Ala979=)
c.2934T= (p.Ala978=)
n.341T=
16g.56904449delCA2807160867SLC12A3c.2911del (p.Ala971LeufsTer9)
c.2908del (p.Ala970LeufsTer9)
c.2938del (p.Ala980LeufsTer9)
c.2935del (p.Ala979LeufsTer9)
n.342del
16g.56904449G>ACA396002528SLC12A3c.2911G>A (p.Ala971Thr)
c.2908G>A (p.Ala970Thr)
c.2938G>A (p.Ala980Thr)
c.2935G>A (p.Ala979Thr)
n.342G>A
ClinVar dbSNP
16g.56904449G>CCA396002531SLC12A3c.2911G>C (p.Ala971Pro)
c.2908G>C (p.Ala970Pro)
c.2938G>C (p.Ala980Pro)
c.2935G>C (p.Ala979Pro)
n.342G>C
gnomAD v4
16g.56904449G>TCA396002536SLC12A3c.2911G>T (p.Ala971Ser)
c.2908G>T (p.Ala970Ser)
c.2938G>T (p.Ala980Ser)
c.2935G>T (p.Ala979Ser)
n.342G>T
gnomAD v4
16g.56904450C>ACA396002541SLC12A3c.2912C>A (p.Ala971Asp)
c.2909C>A (p.Ala970Asp)
c.2939C>A (p.Ala980Asp)
c.2936C>A (p.Ala979Asp)
n.343C>A
16g.56904450C>GCA396002543SLC12A3c.2912C>G (p.Ala971Gly)
c.2909C>G (p.Ala970Gly)
c.2939C>G (p.Ala980Gly)
c.2936C>G (p.Ala979Gly)
n.343C>G
16g.56904450C>TCA396002547SLC12A3c.2912C>T (p.Ala971Val)
c.2909C>T (p.Ala970Val)
c.2939C>T (p.Ala980Val)
c.2936C>T (p.Ala979Val)
n.343C>T
gnomAD v4
16g.56904451T>ACA495613589SLC12A3c.2913T>A (p.Ala971=)
c.2910T>A (p.Ala970=)
c.2940T>A (p.Ala980=)
c.2937T>A (p.Ala979=)
n.344T>A
16g.56904451T>CCA281521333SLC12A3c.2913T>C (p.Ala971=)
c.2910T>C (p.Ala970=)
c.2940T>C (p.Ala980=)
c.2937T>C (p.Ala979=)
n.344T>C
dbSNP gnomAD v4
16g.56904451T>GCA495613590SLC12A3c.2913T>G (p.Ala971=)
c.2910T>G (p.Ala970=)
c.2940T>G (p.Ala980=)
c.2937T>G (p.Ala979=)
n.344T>G
ClinVar dbSNP gnomAD v4
16g.56904451T=CA2224365752SLC12A3c.2913T= (p.Ala971=)
c.2910T= (p.Ala970=)
c.2940T= (p.Ala980=)
c.2937T= (p.Ala979=)
n.344T=
16g.56904452C>ACA396002553SLC12A3c.2914C>A (p.Leu972Ile)
c.2911C>A (p.Leu971Ile)
c.2941C>A (p.Leu981Ile)
c.2938C>A (p.Leu980Ile)
n.345C>A
16g.56904452C>GCA396002559SLC12A3c.2914C>G (p.Leu972Val)
c.2911C>G (p.Leu971Val)
c.2941C>G (p.Leu981Val)
c.2938C>G (p.Leu980Val)
n.345C>G
16g.56904452C>TCA396002561SLC12A3c.2914C>T (p.Leu972Phe)
c.2911C>T (p.Leu971Phe)
c.2941C>T (p.Leu981Phe)
c.2938C>T (p.Leu980Phe)
n.345C>T
gnomAD v4

Number of alleles fetched