Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.34254503G>ACA173455SLC12A6c.963C>T (p.Tyr321=)
n.1745C>T
c.810C>T (p.Tyr270=)
c.786C>T (p.Tyr262=)
c.918C>T (p.Tyr306=)
c.936C>T (p.Tyr312=)
c.399C>T (p.Tyr133=)
c.816C>T (p.Tyr272=)
n.969C>T
n.2213C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254503G>CCA391609327SLC12A6c.963C>G (p.Tyr321Ter)
n.1745C>G
c.810C>G (p.Tyr270Ter)
c.786C>G (p.Tyr262Ter)
c.918C>G (p.Tyr306Ter)
c.936C>G (p.Tyr312Ter)
c.399C>G (p.Tyr133Ter)
c.816C>G (p.Tyr272Ter)
n.969C>G
n.2213C>G
15g.34254503G>TCA16041723SLC12A6c.963C>A (p.Tyr321Ter)
n.1745C>A
c.810C>A (p.Tyr270Ter)
c.786C>A (p.Tyr262Ter)
c.918C>A (p.Tyr306Ter)
c.936C>A (p.Tyr312Ter)
c.399C>A (p.Tyr133Ter)
c.816C>A (p.Tyr272Ter)
n.969C>A
n.2213C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.34254504T>ACA391609332SLC12A6c.962A>T (p.Tyr321Phe)
n.1744A>T
c.809A>T (p.Tyr270Phe)
c.785A>T (p.Tyr262Phe)
c.917A>T (p.Tyr306Phe)
c.935A>T (p.Tyr312Phe)
c.398A>T (p.Tyr133Phe)
c.815A>T (p.Tyr272Phe)
n.968A>T
n.2212A>T
15g.34254504T>CCA391609334SLC12A6c.962A>G (p.Tyr321Cys)
n.1744A>G
c.809A>G (p.Tyr270Cys)
c.785A>G (p.Tyr262Cys)
c.917A>G (p.Tyr306Cys)
c.935A>G (p.Tyr312Cys)
c.398A>G (p.Tyr133Cys)
c.815A>G (p.Tyr272Cys)
n.968A>G
n.2212A>G
 gnomAD v4
15g.34254504T>GCA391609338SLC12A6c.962A>C (p.Tyr321Ser)
n.1744A>C
c.809A>C (p.Tyr270Ser)
c.785A>C (p.Tyr262Ser)
c.917A>C (p.Tyr306Ser)
c.935A>C (p.Tyr312Ser)
c.398A>C (p.Tyr133Ser)
c.815A>C (p.Tyr272Ser)
n.968A>C
n.2212A>C
15g.34254505A>CCA391609341SLC12A6c.961T>G (p.Tyr321Asp)
n.1743T>G
c.808T>G (p.Tyr270Asp)
c.784T>G (p.Tyr262Asp)
c.916T>G (p.Tyr306Asp)
c.934T>G (p.Tyr312Asp)
c.397T>G (p.Tyr133Asp)
c.814T>G (p.Tyr272Asp)
n.967T>G
n.2211T>G
15g.34254505A>GCA391609344SLC12A6c.961T>C (p.Tyr321His)
n.1743T>C
c.808T>C (p.Tyr270His)
c.784T>C (p.Tyr262His)
c.916T>C (p.Tyr306His)
c.934T>C (p.Tyr312His)
c.397T>C (p.Tyr133His)
c.814T>C (p.Tyr272His)
n.967T>C
n.2211T>C
15g.34254505A>TCA391609348SLC12A6c.961T>A (p.Tyr321Asn)
n.1743T>A
c.808T>A (p.Tyr270Asn)
c.784T>A (p.Tyr262Asn)
c.916T>A (p.Tyr306Asn)
c.934T>A (p.Tyr312Asn)
c.397T>A (p.Tyr133Asn)
c.814T>A (p.Tyr272Asn)
n.967T>A
n.2211T>A
15g.34254506G>ACA489653023SLC12A6c.960C>T (p.Val320=)
n.1742C>T
c.807C>T (p.Val269=)
c.783C>T (p.Val261=)
c.915C>T (p.Val305=)
c.933C>T (p.Val311=)
c.396C>T (p.Val132=)
c.813C>T (p.Val271=)
n.966C>T
n.2210C>T
 ClinVar
15g.34254506G>CCA489653022SLC12A6c.960C>G (p.Val320=)
n.1742C>G
c.807C>G (p.Val269=)
c.783C>G (p.Val261=)
c.915C>G (p.Val305=)
c.933C>G (p.Val311=)
c.396C>G (p.Val132=)
c.813C>G (p.Val271=)
n.966C>G
n.2210C>G
 dbSNP gnomAD v4
15g.34254506G>TCA489653021SLC12A6c.960C>A (p.Val320=)
n.1742C>A
c.807C>A (p.Val269=)
c.783C>A (p.Val261=)
c.915C>A (p.Val305=)
c.933C>A (p.Val311=)
c.396C>A (p.Val132=)
c.813C>A (p.Val271=)
n.966C>A
n.2210C>A
15g.34254507A>CCA391609352SLC12A6c.959T>G (p.Val320Gly)
n.1741T>G
c.806T>G (p.Val269Gly)
c.782T>G (p.Val261Gly)
c.914T>G (p.Val305Gly)
c.932T>G (p.Val311Gly)
c.395T>G (p.Val132Gly)
c.812T>G (p.Val271Gly)
n.965T>G
n.2209T>G
15g.34254507A>GCA391609354SLC12A6c.959T>C (p.Val320Ala)
n.1741T>C
c.806T>C (p.Val269Ala)
c.782T>C (p.Val261Ala)
c.914T>C (p.Val305Ala)
c.932T>C (p.Val311Ala)
c.395T>C (p.Val132Ala)
c.812T>C (p.Val271Ala)
n.965T>C
n.2209T>C
15g.34254507A>TCA391609357SLC12A6c.959T>A (p.Val320Asp)
n.1741T>A
c.806T>A (p.Val269Asp)
c.782T>A (p.Val261Asp)
c.914T>A (p.Val305Asp)
c.932T>A (p.Val311Asp)
c.395T>A (p.Val132Asp)
c.812T>A (p.Val271Asp)
n.965T>A
n.2209T>A
15g.34254508C>ACA391609360SLC12A6c.958G>T (p.Val320Phe)
n.1740G>T
c.805G>T (p.Val269Phe)
c.781G>T (p.Val261Phe)
c.913G>T (p.Val305Phe)
c.931G>T (p.Val311Phe)
c.394G>T (p.Val132Phe)
c.811G>T (p.Val271Phe)
n.964G>T
n.2208G>T
15g.34254508C>GCA391609363SLC12A6c.958G>C (p.Val320Leu)
n.1740G>C
c.805G>C (p.Val269Leu)
c.781G>C (p.Val261Leu)
c.913G>C (p.Val305Leu)
c.931G>C (p.Val311Leu)
c.394G>C (p.Val132Leu)
c.811G>C (p.Val271Leu)
n.964G>C
n.2208G>C
15g.34254508C>TCA7464433SLC12A6c.958G>A (p.Val320Ile)
n.1740G>A
c.805G>A (p.Val269Ile)
c.781G>A (p.Val261Ile)
c.913G>A (p.Val305Ile)
c.931G>A (p.Val311Ile)
c.394G>A (p.Val132Ile)
c.811G>A (p.Val271Ile)
n.964G>A
n.2208G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254509A>CCA489653025SLC12A6c.957T>G (p.Arg319=)
n.1739T>G
c.804T>G (p.Arg268=)
c.780T>G (p.Arg260=)
c.912T>G (p.Arg304=)
c.930T>G (p.Arg310=)
c.393T>G (p.Arg131=)
c.810T>G (p.Arg270=)
n.963T>G
n.2207T>G
15g.34254509A>GCA489653024SLC12A6c.957T>C (p.Arg319=)
n.1739T>C
c.804T>C (p.Arg268=)
c.780T>C (p.Arg260=)
c.912T>C (p.Arg304=)
c.930T>C (p.Arg310=)
c.393T>C (p.Arg131=)
c.810T>C (p.Arg270=)
n.963T>C
n.2207T>C
 gnomAD v4
15g.34254509A>TCA489653026SLC12A6c.957T>A (p.Arg319=)
n.1739T>A
c.804T>A (p.Arg268=)
c.780T>A (p.Arg260=)
c.912T>A (p.Arg304=)
c.930T>A (p.Arg310=)
c.393T>A (p.Arg131=)
c.810T>A (p.Arg270=)
n.963T>A
n.2207T>A
 gnomAD v4
15g.34254510C>ACA391609373SLC12A6c.956G>T (p.Arg319Leu)
n.1738G>T
c.803G>T (p.Arg268Leu)
c.779G>T (p.Arg260Leu)
c.911G>T (p.Arg304Leu)
c.929G>T (p.Arg310Leu)
c.392G>T (p.Arg131Leu)
c.809G>T (p.Arg270Leu)
n.962G>T
n.2206G>T
15g.34254510C>GCA391609370SLC12A6c.956G>C (p.Arg319Pro)
n.1738G>C
c.803G>C (p.Arg268Pro)
c.779G>C (p.Arg260Pro)
c.911G>C (p.Arg304Pro)
c.929G>C (p.Arg310Pro)
c.392G>C (p.Arg131Pro)
c.809G>C (p.Arg270Pro)
n.962G>C
n.2206G>C
15g.34254510C>TCA268639435SLC12A6c.956G>A (p.Arg319His)
n.1738G>A
c.803G>A (p.Arg268His)
c.779G>A (p.Arg260His)
c.911G>A (p.Arg304His)
c.929G>A (p.Arg310His)
c.392G>A (p.Arg131His)
c.809G>A (p.Arg270His)
n.962G>A
n.2206G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.34254511G>ACA7464434SLC12A6c.955C>T (p.Arg319Cys)
n.1737C>T
c.802C>T (p.Arg268Cys)
c.778C>T (p.Arg260Cys)
c.910C>T (p.Arg304Cys)
c.928C>T (p.Arg310Cys)
c.391C>T (p.Arg131Cys)
c.808C>T (p.Arg270Cys)
n.961C>T
n.2205C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.34254511G>CCA391609382SLC12A6c.955C>G (p.Arg319Gly)
n.1737C>G
c.802C>G (p.Arg268Gly)
c.778C>G (p.Arg260Gly)
c.910C>G (p.Arg304Gly)
c.928C>G (p.Arg310Gly)
c.391C>G (p.Arg131Gly)
c.808C>G (p.Arg270Gly)
n.961C>G
n.2205C>G
15g.34254511G>TCA391609386SLC12A6c.955C>A (p.Arg319Ser)
n.1737C>A
c.802C>A (p.Arg268Ser)
c.778C>A (p.Arg260Ser)
c.910C>A (p.Arg304Ser)
c.928C>A (p.Arg310Ser)
c.391C>A (p.Arg131Ser)
c.808C>A (p.Arg270Ser)
n.961C>A
n.2205C>A
15g.34254512C>ACA391609391SLC12A6c.954G>T (p.Met318Ile)
n.1736G>T
c.801G>T (p.Met267Ile)
c.777G>T (p.Met259Ile)
c.909G>T (p.Met303Ile)
c.927G>T (p.Met309Ile)
c.390G>T (p.Met130Ile)
c.807G>T (p.Met269Ile)
n.960G>T
n.2204G>T
15g.34254512C>GCA391609394SLC12A6c.954G>C (p.Met318Ile)
n.1736G>C
c.801G>C (p.Met267Ile)
c.777G>C (p.Met259Ile)
c.909G>C (p.Met303Ile)
c.927G>C (p.Met309Ile)
c.390G>C (p.Met130Ile)
c.807G>C (p.Met269Ile)
n.960G>C
n.2204G>C
15g.34254512C>TCA391609395SLC12A6c.954G>A (p.Met318Ile)
n.1736G>A
c.801G>A (p.Met267Ile)
c.777G>A (p.Met259Ile)
c.909G>A (p.Met303Ile)
c.927G>A (p.Met309Ile)
c.390G>A (p.Met130Ile)
c.807G>A (p.Met269Ile)
n.960G>A
n.2204G>A
15g.34254513A>CCA391609399SLC12A6c.953T>G (p.Met318Arg)
n.1735T>G
c.800T>G (p.Met267Arg)
c.776T>G (p.Met259Arg)
c.908T>G (p.Met303Arg)
c.926T>G (p.Met309Arg)
c.389T>G (p.Met130Arg)
c.806T>G (p.Met269Arg)
n.959T>G
n.2203T>G
15g.34254513A>GCA7464435SLC12A6c.953T>C (p.Met318Thr)
n.1735T>C
c.800T>C (p.Met267Thr)
c.776T>C (p.Met259Thr)
c.908T>C (p.Met303Thr)
c.926T>C (p.Met309Thr)
c.389T>C (p.Met130Thr)
c.806T>C (p.Met269Thr)
n.959T>C
n.2203T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254513A>TCA391609403SLC12A6c.953T>A (p.Met318Lys)
n.1735T>A
c.800T>A (p.Met267Lys)
c.776T>A (p.Met259Lys)
c.908T>A (p.Met303Lys)
c.926T>A (p.Met309Lys)
c.389T>A (p.Met130Lys)
c.806T>A (p.Met269Lys)
n.959T>A
n.2203T>A
15g.34254514T>ACA268639449SLC12A6c.952A>T (p.Met318Leu)
n.1734A>T
c.799A>T (p.Met267Leu)
c.775A>T (p.Met259Leu)
c.907A>T (p.Met303Leu)
c.925A>T (p.Met309Leu)
c.388A>T (p.Met130Leu)
c.805A>T (p.Met269Leu)
n.958A>T
n.2202A>T
 dbSNP gnomAD v4
15g.34254514T>CCA7464436SLC12A6c.952A>G (p.Met318Val)
n.1734A>G
c.799A>G (p.Met267Val)
c.775A>G (p.Met259Val)
c.907A>G (p.Met303Val)
c.925A>G (p.Met309Val)
c.388A>G (p.Met130Val)
c.805A>G (p.Met269Val)
n.958A>G
n.2202A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254514T>GCA391609409SLC12A6c.952A>C (p.Met318Leu)
n.1734A>C
c.799A>C (p.Met267Leu)
c.775A>C (p.Met259Leu)
c.907A>C (p.Met303Leu)
c.925A>C (p.Met309Leu)
c.388A>C (p.Met130Leu)
c.805A>C (p.Met269Leu)
n.958A>C
n.2202A>C
15g.34254515G>ACA489653031SLC12A6c.951C>T (p.Asn317=)
n.1733C>T
c.798C>T (p.Asn266=)
c.774C>T (p.Asn258=)
c.906C>T (p.Asn302=)
c.924C>T (p.Asn308=)
c.387C>T (p.Asn129=)
c.804C>T (p.Asn268=)
n.957C>T
n.2201C>T
15g.34254515G>CCA391609413SLC12A6c.951C>G (p.Asn317Lys)
n.1733C>G
c.798C>G (p.Asn266Lys)
c.774C>G (p.Asn258Lys)
c.906C>G (p.Asn302Lys)
c.924C>G (p.Asn308Lys)
c.387C>G (p.Asn129Lys)
c.804C>G (p.Asn268Lys)
n.957C>G
n.2201C>G
15g.34254515G>TCA7464437SLC12A6c.951C>A (p.Asn317Lys)
n.1733C>A
c.798C>A (p.Asn266Lys)
c.774C>A (p.Asn258Lys)
c.906C>A (p.Asn302Lys)
c.924C>A (p.Asn308Lys)
c.387C>A (p.Asn129Lys)
c.804C>A (p.Asn268Lys)
n.957C>A
n.2201C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.34254516T>ACA391609421SLC12A6c.950A>T (p.Asn317Ile)
n.1732A>T
c.797A>T (p.Asn266Ile)
c.773A>T (p.Asn258Ile)
c.905A>T (p.Asn302Ile)
c.923A>T (p.Asn308Ile)
c.386A>T (p.Asn129Ile)
c.803A>T (p.Asn268Ile)
n.956A>T
n.2200A>T
15g.34254516T>CCA391609424SLC12A6c.950A>G (p.Asn317Ser)
n.1732A>G
c.797A>G (p.Asn266Ser)
c.773A>G (p.Asn258Ser)
c.905A>G (p.Asn302Ser)
c.923A>G (p.Asn308Ser)
c.386A>G (p.Asn129Ser)
c.803A>G (p.Asn268Ser)
n.956A>G
n.2200A>G
15g.34254516T>GCA391609418SLC12A6c.950A>C (p.Asn317Thr)
n.1732A>C
c.797A>C (p.Asn266Thr)
c.773A>C (p.Asn258Thr)
c.905A>C (p.Asn302Thr)
c.923A>C (p.Asn308Thr)
c.386A>C (p.Asn129Thr)
c.803A>C (p.Asn268Thr)
n.956A>C
n.2200A>C
15g.34254517T>ACA391609427SLC12A6c.949A>T (p.Asn317Tyr)
n.1731A>T
c.796A>T (p.Asn266Tyr)
c.772A>T (p.Asn258Tyr)
c.904A>T (p.Asn302Tyr)
c.922A>T (p.Asn308Tyr)
c.385A>T (p.Asn129Tyr)
c.802A>T (p.Asn268Tyr)
n.955A>T
n.2199A>T
15g.34254517T>CCA391609430SLC12A6c.949A>G (p.Asn317Asp)
n.1731A>G
c.796A>G (p.Asn266Asp)
c.772A>G (p.Asn258Asp)
c.904A>G (p.Asn302Asp)
c.922A>G (p.Asn308Asp)
c.385A>G (p.Asn129Asp)
c.802A>G (p.Asn268Asp)
n.955A>G
n.2199A>G
 gnomAD v4
15g.34254517T>GCA391609433SLC12A6c.949A>C (p.Asn317His)
n.1731A>C
c.796A>C (p.Asn266His)
c.772A>C (p.Asn258His)
c.904A>C (p.Asn302His)
c.922A>C (p.Asn308His)
c.385A>C (p.Asn129His)
c.802A>C (p.Asn268His)
n.955A>C
n.2199A>C
15g.34254518A>CCA391609436SLC12A6c.948T>G (p.Asn316Lys)
n.1730T>G
c.795T>G (p.Asn265Lys)
c.771T>G (p.Asn257Lys)
c.903T>G (p.Asn301Lys)
c.921T>G (p.Asn307Lys)
c.384T>G (p.Asn128Lys)
c.801T>G (p.Asn267Lys)
n.954T>G
n.2198T>G
15g.34254518A>GCA489653035SLC12A6c.948T>C (p.Asn316=)
n.1730T>C
c.795T>C (p.Asn265=)
c.771T>C (p.Asn257=)
c.903T>C (p.Asn301=)
c.921T>C (p.Asn307=)
c.384T>C (p.Asn128=)
c.801T>C (p.Asn267=)
n.954T>C
n.2198T>C
15g.34254518A>TCA391609439SLC12A6c.948T>A (p.Asn316Lys)
n.1730T>A
c.795T>A (p.Asn265Lys)
c.771T>A (p.Asn257Lys)
c.903T>A (p.Asn301Lys)
c.921T>A (p.Asn307Lys)
c.384T>A (p.Asn128Lys)
c.801T>A (p.Asn267Lys)
n.954T>A
n.2198T>A
15g.34254519T>ACA391609443SLC12A6c.947A>T (p.Asn316Ile)
n.1729A>T
c.794A>T (p.Asn265Ile)
c.770A>T (p.Asn257Ile)
c.902A>T (p.Asn301Ile)
c.920A>T (p.Asn307Ile)
c.383A>T (p.Asn128Ile)
c.800A>T (p.Asn267Ile)
n.953A>T
n.2197A>T
15g.34254519T>CCA7464438SLC12A6c.947A>G (p.Asn316Ser)
n.1729A>G
c.794A>G (p.Asn265Ser)
c.770A>G (p.Asn257Ser)
c.902A>G (p.Asn301Ser)
c.920A>G (p.Asn307Ser)
c.383A>G (p.Asn128Ser)
c.800A>G (p.Asn267Ser)
n.953A>G
n.2197A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.34254519T>GCA391609446SLC12A6c.947A>C (p.Asn316Thr)
n.1729A>C
c.794A>C (p.Asn265Thr)
c.770A>C (p.Asn257Thr)
c.902A>C (p.Asn301Thr)
c.920A>C (p.Asn307Thr)
c.383A>C (p.Asn128Thr)
c.800A>C (p.Asn267Thr)
n.953A>C
n.2197A>C
15g.34254520T>ACA391609452SLC12A6c.946A>T (p.Asn316Tyr)
n.1728A>T
c.793A>T (p.Asn265Tyr)
c.769A>T (p.Asn257Tyr)
c.901A>T (p.Asn301Tyr)
c.919A>T (p.Asn307Tyr)
c.382A>T (p.Asn128Tyr)
c.799A>T (p.Asn267Tyr)
n.952A>T
n.2196A>T
15g.34254520T>CCA391609454SLC12A6c.946A>G (p.Asn316Asp)
n.1728A>G
c.793A>G (p.Asn265Asp)
c.769A>G (p.Asn257Asp)
c.901A>G (p.Asn301Asp)
c.919A>G (p.Asn307Asp)
c.382A>G (p.Asn128Asp)
c.799A>G (p.Asn267Asp)
n.952A>G
n.2196A>G
15g.34254520T>GCA391609458SLC12A6c.946A>C (p.Asn316His)
n.1728A>C
c.793A>C (p.Asn265His)
c.769A>C (p.Asn257His)
c.901A>C (p.Asn301His)
c.919A>C (p.Asn307His)
c.382A>C (p.Asn128His)
c.799A>C (p.Asn267His)
n.952A>C
n.2196A>C
15g.34254521T>ACA489653043SLC12A6c.945A>T (p.Leu315=)
n.1727A>T
c.792A>T (p.Leu264=)
c.768A>T (p.Leu256=)
c.900A>T (p.Leu300=)
c.918A>T (p.Leu306=)
c.381A>T (p.Leu127=)
c.798A>T (p.Leu266=)
n.951A>T
n.2195A>T
15g.34254521T>CCA489653041SLC12A6c.945A>G (p.Leu315=)
n.1727A>G
c.792A>G (p.Leu264=)
c.768A>G (p.Leu256=)
c.900A>G (p.Leu300=)
c.918A>G (p.Leu306=)
c.381A>G (p.Leu127=)
c.798A>G (p.Leu266=)
n.951A>G
n.2195A>G
 gnomAD v4
15g.34254521T>GCA489653044SLC12A6c.945A>C (p.Leu315=)
n.1727A>C
c.792A>C (p.Leu264=)
c.768A>C (p.Leu256=)
c.900A>C (p.Leu300=)
c.918A>C (p.Leu306=)
c.381A>C (p.Leu127=)
c.798A>C (p.Leu266=)
n.951A>C
n.2195A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.34254522A>CCA391609463SLC12A6c.944T>G (p.Leu315Arg)
n.1726T>G
c.791T>G (p.Leu264Arg)
c.767T>G (p.Leu256Arg)
c.899T>G (p.Leu300Arg)
c.917T>G (p.Leu306Arg)
c.380T>G (p.Leu127Arg)
c.797T>G (p.Leu266Arg)
n.950T>G
n.2194T>G
15g.34254522A>GCA391609466SLC12A6c.944T>C (p.Leu315Pro)
n.1726T>C
c.791T>C (p.Leu264Pro)
c.767T>C (p.Leu256Pro)
c.899T>C (p.Leu300Pro)
c.917T>C (p.Leu306Pro)
c.380T>C (p.Leu127Pro)
c.797T>C (p.Leu266Pro)
n.950T>C
n.2194T>C
 gnomAD v4
15g.34254522A>TCA391609469SLC12A6c.944T>A (p.Leu315Gln)
n.1726T>A
c.791T>A (p.Leu264Gln)
c.767T>A (p.Leu256Gln)
c.899T>A (p.Leu300Gln)
c.917T>A (p.Leu306Gln)
c.380T>A (p.Leu127Gln)
c.797T>A (p.Leu266Gln)
n.950T>A
n.2194T>A
15g.34254523G>ACA489653048SLC12A6c.943C>T (p.Leu315=)
n.1725C>T
c.790C>T (p.Leu264=)
c.766C>T (p.Leu256=)
c.898C>T (p.Leu300=)
c.916C>T (p.Leu306=)
c.379C>T (p.Leu127=)
c.796C>T (p.Leu266=)
n.949C>T
n.2193C>T
15g.34254523G>CCA391609472SLC12A6c.943C>G (p.Leu315Val)
n.1725C>G
c.790C>G (p.Leu264Val)
c.766C>G (p.Leu256Val)
c.898C>G (p.Leu300Val)
c.916C>G (p.Leu306Val)
c.379C>G (p.Leu127Val)
c.796C>G (p.Leu266Val)
n.949C>G
n.2193C>G
15g.34254523G>TCA391609474SLC12A6c.943C>A (p.Leu315Ile)
n.1725C>A
c.790C>A (p.Leu264Ile)
c.766C>A (p.Leu256Ile)
c.898C>A (p.Leu300Ile)
c.916C>A (p.Leu306Ile)
c.379C>A (p.Leu127Ile)
c.796C>A (p.Leu266Ile)
n.949C>A
n.2193C>A
15g.34254524C>ACA391609477SLC12A6c.942G>T (p.Met314Ile)
n.1724G>T
c.789G>T (p.Met263Ile)
c.765G>T (p.Met255Ile)
c.897G>T (p.Met299Ile)
c.915G>T (p.Met305Ile)
c.378G>T (p.Met126Ile)
c.795G>T (p.Met265Ile)
n.948G>T
n.2192G>T
15g.34254524C>GCA391609479SLC12A6c.942G>C (p.Met314Ile)
n.1724G>C
c.789G>C (p.Met263Ile)
c.765G>C (p.Met255Ile)
c.897G>C (p.Met299Ile)
c.915G>C (p.Met305Ile)
c.378G>C (p.Met126Ile)
c.795G>C (p.Met265Ile)
n.948G>C
n.2192G>C
15g.34254524C>TCA391609483SLC12A6c.942G>A (p.Met314Ile)
n.1724G>A
c.789G>A (p.Met263Ile)
c.765G>A (p.Met255Ile)
c.897G>A (p.Met299Ile)
c.915G>A (p.Met305Ile)
c.378G>A (p.Met126Ile)
c.795G>A (p.Met265Ile)
n.948G>A
n.2192G>A
15g.34254525A>CCA391609486SLC12A6c.941T>G (p.Met314Arg)
n.1723T>G
c.788T>G (p.Met263Arg)
c.764T>G (p.Met255Arg)
c.896T>G (p.Met299Arg)
c.914T>G (p.Met305Arg)
c.377T>G (p.Met126Arg)
c.794T>G (p.Met265Arg)
n.947T>G
n.2191T>G
15g.34254525A>GCA391609489SLC12A6c.941T>C (p.Met314Thr)
n.1723T>C
c.788T>C (p.Met263Thr)
c.764T>C (p.Met255Thr)
c.896T>C (p.Met299Thr)
c.914T>C (p.Met305Thr)
c.377T>C (p.Met126Thr)
c.794T>C (p.Met265Thr)
n.947T>C
n.2191T>C
15g.34254525A>TCA391609490SLC12A6c.941T>A (p.Met314Lys)
n.1723T>A
c.788T>A (p.Met263Lys)
c.764T>A (p.Met255Lys)
c.896T>A (p.Met299Lys)
c.914T>A (p.Met305Lys)
c.377T>A (p.Met126Lys)
c.794T>A (p.Met265Lys)
n.947T>A
n.2191T>A
15g.34254526T>ACA272481SLC12A6c.940A>T (p.Met314Leu)
n.1722A>T
c.787A>T (p.Met263Leu)
c.763A>T (p.Met255Leu)
c.895A>T (p.Met299Leu)
c.913A>T (p.Met305Leu)
c.376A>T (p.Met126Leu)
c.793A>T (p.Met265Leu)
n.946A>T
n.2190A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254526T>CCA391609497SLC12A6c.940A>G (p.Met314Val)
n.1722A>G
c.787A>G (p.Met263Val)
c.763A>G (p.Met255Val)
c.895A>G (p.Met299Val)
c.913A>G (p.Met305Val)
c.376A>G (p.Met126Val)
c.793A>G (p.Met265Val)
n.946A>G
n.2190A>G
 gnomAD v4
15g.34254526T>GCA391609498SLC12A6c.940A>C (p.Met314Leu)
n.1722A>C
c.787A>C (p.Met263Leu)
c.763A>C (p.Met255Leu)
c.895A>C (p.Met299Leu)
c.913A>C (p.Met305Leu)
c.376A>C (p.Met126Leu)
c.793A>C (p.Met265Leu)
n.946A>C
n.2190A>C
15g.34254527G>ACA489653053SLC12A6c.939C>T (p.Ala313=)
n.1721C>T
c.786C>T (p.Ala262=)
c.762C>T (p.Ala254=)
c.894C>T (p.Ala298=)
c.912C>T (p.Ala304=)
c.375C>T (p.Ala125=)
c.792C>T (p.Ala264=)
n.945C>T
n.2189C>T
15g.34254527G>CCA489653054SLC12A6c.939C>G (p.Ala313=)
n.1721C>G
c.786C>G (p.Ala262=)
c.762C>G (p.Ala254=)
c.894C>G (p.Ala298=)
c.912C>G (p.Ala304=)
c.375C>G (p.Ala125=)
c.792C>G (p.Ala264=)
n.945C>G
n.2189C>G
15g.34254527G>TCA489653055SLC12A6c.939C>A (p.Ala313=)
n.1721C>A
c.786C>A (p.Ala262=)
c.762C>A (p.Ala254=)
c.894C>A (p.Ala298=)
c.912C>A (p.Ala304=)
c.375C>A (p.Ala125=)
c.792C>A (p.Ala264=)
n.945C>A
n.2189C>A
 gnomAD v4
15g.34254528G>ACA391609503SLC12A6c.938C>T (p.Ala313Val)
n.1720C>T
c.785C>T (p.Ala262Val)
c.761C>T (p.Ala254Val)
c.893C>T (p.Ala298Val)
c.911C>T (p.Ala304Val)
c.374C>T (p.Ala125Val)
c.791C>T (p.Ala264Val)
n.944C>T
n.2188C>T
 dbSNP gnomAD v4
15g.34254528G>CCA391609505SLC12A6c.938C>G (p.Ala313Gly)
n.1720C>G
c.785C>G (p.Ala262Gly)
c.761C>G (p.Ala254Gly)
c.893C>G (p.Ala298Gly)
c.911C>G (p.Ala304Gly)
c.374C>G (p.Ala125Gly)
c.791C>G (p.Ala264Gly)
n.944C>G
n.2188C>G
15g.34254528G>TCA268639470SLC12A6c.938C>A (p.Ala313Asp)
n.1720C>A
c.785C>A (p.Ala262Asp)
c.761C>A (p.Ala254Asp)
c.893C>A (p.Ala298Asp)
c.911C>A (p.Ala304Asp)
c.374C>A (p.Ala125Asp)
c.791C>A (p.Ala264Asp)
n.944C>A
n.2188C>A
 dbSNP gnomAD v4
15g.34254529C>ACA391609513SLC12A6c.937G>T (p.Ala313Ser)
n.1719G>T
c.784G>T (p.Ala262Ser)
c.760G>T (p.Ala254Ser)
c.892G>T (p.Ala298Ser)
c.910G>T (p.Ala304Ser)
c.373G>T (p.Ala125Ser)
c.790G>T (p.Ala264Ser)
n.943G>T
n.2187G>T
15g.34254529C>GCA391609515SLC12A6c.937G>C (p.Ala313Pro)
n.1719G>C
c.784G>C (p.Ala262Pro)
c.760G>C (p.Ala254Pro)
c.892G>C (p.Ala298Pro)
c.910G>C (p.Ala304Pro)
c.373G>C (p.Ala125Pro)
c.790G>C (p.Ala264Pro)
n.943G>C
n.2187G>C
15g.34254529C>TCA391609511SLC12A6c.937G>A (p.Ala313Thr)
n.1719G>A
c.784G>A (p.Ala262Thr)
c.760G>A (p.Ala254Thr)
c.892G>A (p.Ala298Thr)
c.910G>A (p.Ala304Thr)
c.373G>A (p.Ala125Thr)
c.790G>A (p.Ala264Thr)
n.943G>A
n.2187G>A
15g.34254530T>ACA489653061SLC12A6c.936A>T (p.Ala312=)
n.1718A>T
c.783A>T (p.Ala261=)
c.759A>T (p.Ala253=)
c.891A>T (p.Ala297=)
c.909A>T (p.Ala303=)
c.372A>T (p.Ala124=)
c.789A>T (p.Ala263=)
n.942A>T
n.2186A>T
15g.34254530T>CCA489653060SLC12A6c.936A>G (p.Ala312=)
n.1718A>G
c.783A>G (p.Ala261=)
c.759A>G (p.Ala253=)
c.891A>G (p.Ala297=)
c.909A>G (p.Ala303=)
c.372A>G (p.Ala124=)
c.789A>G (p.Ala263=)
n.942A>G
n.2186A>G
15g.34254530T>GCA489653059SLC12A6c.936A>C (p.Ala312=)
n.1718A>C
c.783A>C (p.Ala261=)
c.759A>C (p.Ala253=)
c.891A>C (p.Ala297=)
c.909A>C (p.Ala303=)
c.372A>C (p.Ala124=)
c.789A>C (p.Ala263=)
n.942A>C
n.2186A>C
15g.34254531G>ACA391609521SLC12A6c.935C>T (p.Ala312Val)
n.1717C>T
c.782C>T (p.Ala261Val)
c.758C>T (p.Ala253Val)
c.890C>T (p.Ala297Val)
c.908C>T (p.Ala303Val)
c.371C>T (p.Ala124Val)
c.788C>T (p.Ala263Val)
n.941C>T
n.2185C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.34254531G>CCA391609518SLC12A6c.935C>G (p.Ala312Gly)
n.1717C>G
c.782C>G (p.Ala261Gly)
c.758C>G (p.Ala253Gly)
c.890C>G (p.Ala297Gly)
c.908C>G (p.Ala303Gly)
c.371C>G (p.Ala124Gly)
c.788C>G (p.Ala263Gly)
n.941C>G
n.2185C>G
 ClinVar dbSNP
15g.34254531G>TCA391609523SLC12A6c.935C>A (p.Ala312Glu)
n.1717C>A
c.782C>A (p.Ala261Glu)
c.758C>A (p.Ala253Glu)
c.890C>A (p.Ala297Glu)
c.908C>A (p.Ala303Glu)
c.371C>A (p.Ala124Glu)
c.788C>A (p.Ala263Glu)
n.941C>A
n.2185C>A
15g.34254532C>ACA391609530SLC12A6c.934G>T (p.Ala312Ser)
n.1716G>T
c.781G>T (p.Ala261Ser)
c.757G>T (p.Ala253Ser)
c.889G>T (p.Ala297Ser)
c.907G>T (p.Ala303Ser)
c.370G>T (p.Ala124Ser)
c.787G>T (p.Ala263Ser)
n.940G>T
n.2184G>T
15g.34254532C>GCA391609535SLC12A6c.934G>C (p.Ala312Pro)
n.1716G>C
c.781G>C (p.Ala261Pro)
c.757G>C (p.Ala253Pro)
c.889G>C (p.Ala297Pro)
c.907G>C (p.Ala303Pro)
c.370G>C (p.Ala124Pro)
c.787G>C (p.Ala263Pro)
n.940G>C
n.2184G>C
15g.34254532C>TCA391609532SLC12A6c.934G>A (p.Ala312Thr)
n.1716G>A
c.781G>A (p.Ala261Thr)
c.757G>A (p.Ala253Thr)
c.889G>A (p.Ala297Thr)
c.907G>A (p.Ala303Thr)
c.370G>A (p.Ala124Thr)
c.787G>A (p.Ala263Thr)
n.940G>A
n.2184G>A
 COSMIC
15g.34254533T>ACA489653065SLC12A6c.933A>T (p.Ser311=)
n.1715A>T
c.780A>T (p.Ser260=)
c.756A>T (p.Ser252=)
c.888A>T (p.Ser296=)
c.906A>T (p.Ser302=)
c.369A>T (p.Ser123=)
c.786A>T (p.Ser262=)
n.939A>T
n.2183A>T
15g.34254533T>CCA489653063SLC12A6c.933A>G (p.Ser311=)
n.1715A>G
c.780A>G (p.Ser260=)
c.756A>G (p.Ser252=)
c.888A>G (p.Ser296=)
c.906A>G (p.Ser302=)
c.369A>G (p.Ser123=)
c.786A>G (p.Ser262=)
n.939A>G
n.2183A>G
 gnomAD v4
15g.34254533T>GCA489653066SLC12A6c.933A>C (p.Ser311=)
n.1715A>C
c.780A>C (p.Ser260=)
c.756A>C (p.Ser252=)
c.888A>C (p.Ser296=)
c.906A>C (p.Ser302=)
c.369A>C (p.Ser123=)
c.786A>C (p.Ser262=)
n.939A>C
n.2183A>C
15g.34254534G>ACA391609538SLC12A6c.932C>T (p.Ser311Leu)
n.1714C>T
c.779C>T (p.Ser260Leu)
c.755C>T (p.Ser252Leu)
c.887C>T (p.Ser296Leu)
c.905C>T (p.Ser302Leu)
c.368C>T (p.Ser123Leu)
c.785C>T (p.Ser262Leu)
n.938C>T
n.2182C>T
15g.34254534G>CCA391609542SLC12A6c.932C>G (p.Ser311Ter)
n.1714C>G
c.779C>G (p.Ser260Ter)
c.755C>G (p.Ser252Ter)
c.887C>G (p.Ser296Ter)
c.905C>G (p.Ser302Ter)
c.368C>G (p.Ser123Ter)
c.785C>G (p.Ser262Ter)
n.938C>G
n.2182C>G
15g.34254534G>TCA391609539SLC12A6c.932C>A (p.Ser311Ter)
n.1714C>A
c.779C>A (p.Ser260Ter)
c.755C>A (p.Ser252Ter)
c.887C>A (p.Ser296Ter)
c.905C>A (p.Ser302Ter)
c.368C>A (p.Ser123Ter)
c.785C>A (p.Ser262Ter)
n.938C>A
n.2182C>A
15g.34254535A>CCA391609545SLC12A6c.931T>G (p.Ser311Ala)
n.1713T>G
c.778T>G (p.Ser260Ala)
c.754T>G (p.Ser252Ala)
c.886T>G (p.Ser296Ala)
c.904T>G (p.Ser302Ala)
c.367T>G (p.Ser123Ala)
c.784T>G (p.Ser262Ala)
n.937T>G
n.2181T>G
15g.34254535A>GCA391609549SLC12A6c.931T>C (p.Ser311Pro)
n.1713T>C
c.778T>C (p.Ser260Pro)
c.754T>C (p.Ser252Pro)
c.886T>C (p.Ser296Pro)
c.904T>C (p.Ser302Pro)
c.367T>C (p.Ser123Pro)
c.784T>C (p.Ser262Pro)
n.937T>C
n.2181T>C
15g.34254535A>TCA391609552SLC12A6c.931T>A (p.Ser311Thr)
n.1713T>A
c.778T>A (p.Ser260Thr)
c.754T>A (p.Ser252Thr)
c.886T>A (p.Ser296Thr)
c.904T>A (p.Ser302Thr)
c.367T>A (p.Ser123Thr)
c.784T>A (p.Ser262Thr)
n.937T>A
n.2181T>A
15g.34254536T>ACA391609556SLC12A6c.930A>T (p.Glu310Asp)
n.1712A>T
c.777A>T (p.Glu259Asp)
c.753A>T (p.Glu251Asp)
c.885A>T (p.Glu295Asp)
c.903A>T (p.Glu301Asp)
c.366A>T (p.Glu122Asp)
c.783A>T (p.Glu261Asp)
n.936A>T
n.2180A>T
15g.34254536T>CCA489653070SLC12A6c.930A>G (p.Glu310=)
n.1712A>G
c.777A>G (p.Glu259=)
c.753A>G (p.Glu251=)
c.885A>G (p.Glu295=)
c.903A>G (p.Glu301=)
c.366A>G (p.Glu122=)
c.783A>G (p.Glu261=)
n.936A>G
n.2180A>G
 ClinVar gnomAD v4
15g.34254536T>GCA391609559SLC12A6c.930A>C (p.Glu310Asp)
n.1712A>C
c.777A>C (p.Glu259Asp)
c.753A>C (p.Glu251Asp)
c.885A>C (p.Glu295Asp)
c.903A>C (p.Glu301Asp)
c.366A>C (p.Glu122Asp)
c.783A>C (p.Glu261Asp)
n.936A>C
n.2180A>C
15g.34254537delCA2695197245SLC12A6c.930del (p.Glu310AspfsTer6)
n.1712del
c.777del (p.Glu259AspfsTer6)
c.753del (p.Glu251AspfsTer6)
c.885del (p.Glu295AspfsTer6)
c.903del (p.Glu301AspfsTer6)
c.366del (p.Glu122AspfsTer6)
c.783del (p.Glu261AspfsTer6)
n.936del
n.2180del
 ClinVar
15g.34254537T>ACA7464439SLC12A6c.929A>T (p.Glu310Val)
n.1711A>T
c.776A>T (p.Glu259Val)
c.752A>T (p.Glu251Val)
c.884A>T (p.Glu295Val)
c.902A>T (p.Glu301Val)
c.365A>T (p.Glu122Val)
c.782A>T (p.Glu261Val)
n.935A>T
n.2179A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.34254537T>CCA391609564SLC12A6c.929A>G (p.Glu310Gly)
n.1711A>G
c.776A>G (p.Glu259Gly)
c.752A>G (p.Glu251Gly)
c.884A>G (p.Glu295Gly)
c.902A>G (p.Glu301Gly)
c.365A>G (p.Glu122Gly)
c.782A>G (p.Glu261Gly)
n.935A>G
n.2179A>G
15g.34254537T>GCA391609567SLC12A6c.929A>C (p.Glu310Ala)
n.1711A>C
c.776A>C (p.Glu259Ala)
c.752A>C (p.Glu251Ala)
c.884A>C (p.Glu295Ala)
c.902A>C (p.Glu301Ala)
c.365A>C (p.Glu122Ala)
c.782A>C (p.Glu261Ala)
n.935A>C
n.2179A>C
15g.34254538C>ACA391609571SLC12A6c.928G>T (p.Glu310Ter)
n.1710G>T
c.775G>T (p.Glu259Ter)
c.751G>T (p.Glu251Ter)
c.883G>T (p.Glu295Ter)
c.901G>T (p.Glu301Ter)
c.364G>T (p.Glu122Ter)
c.781G>T (p.Glu261Ter)
n.934G>T
n.2178G>T
15g.34254538C>GCA391609573SLC12A6c.928G>C (p.Glu310Gln)
n.1710G>C
c.775G>C (p.Glu259Gln)
c.751G>C (p.Glu251Gln)
c.883G>C (p.Glu295Gln)
c.901G>C (p.Glu301Gln)
c.364G>C (p.Glu122Gln)
c.781G>C (p.Glu261Gln)
n.934G>C
n.2178G>C
 dbSNP gnomAD v2 gnomAD v4
15g.34254538C>TCA391609576SLC12A6c.928G>A (p.Glu310Lys)
n.1710G>A
c.775G>A (p.Glu259Lys)
c.751G>A (p.Glu251Lys)
c.883G>A (p.Glu295Lys)
c.901G>A (p.Glu301Lys)
c.364G>A (p.Glu122Lys)
c.781G>A (p.Glu261Lys)
n.934G>A
n.2178G>A
15g.34254539C>ACA391609580SLC12A6c.927G>T (p.Lys309Asn)
n.1709G>T
c.774G>T (p.Lys258Asn)
c.750G>T (p.Lys250Asn)
c.882G>T (p.Lys294Asn)
c.900G>T (p.Lys300Asn)
c.363G>T (p.Lys121Asn)
c.780G>T (p.Lys260Asn)
n.933G>T
n.2177G>T
15g.34254539C>GCA391609581SLC12A6c.927G>C (p.Lys309Asn)
n.1709G>C
c.774G>C (p.Lys258Asn)
c.750G>C (p.Lys250Asn)
c.882G>C (p.Lys294Asn)
c.900G>C (p.Lys300Asn)
c.363G>C (p.Lys121Asn)
c.780G>C (p.Lys260Asn)
n.933G>C
n.2177G>C
 gnomAD v4
15g.34254539C>TCA489653075SLC12A6c.927G>A (p.Lys309=)
n.1709G>A
c.774G>A (p.Lys258=)
c.750G>A (p.Lys250=)
c.882G>A (p.Lys294=)
c.900G>A (p.Lys300=)
c.363G>A (p.Lys121=)
c.780G>A (p.Lys260=)
n.933G>A
n.2177G>A
 gnomAD v4
15g.34254540T>ACA391609584SLC12A6c.926A>T (p.Lys309Met)
n.1708A>T
c.773A>T (p.Lys258Met)
c.749A>T (p.Lys250Met)
c.881A>T (p.Lys294Met)
c.899A>T (p.Lys300Met)
c.362A>T (p.Lys121Met)
c.779A>T (p.Lys260Met)
n.932A>T
n.2176A>T
15g.34254540T>CCA268639477SLC12A6c.926A>G (p.Lys309Arg)
n.1708A>G
c.773A>G (p.Lys258Arg)
c.749A>G (p.Lys250Arg)
c.881A>G (p.Lys294Arg)
c.899A>G (p.Lys300Arg)
c.362A>G (p.Lys121Arg)
c.779A>G (p.Lys260Arg)
n.932A>G
n.2176A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.34254540T>GCA391609588SLC12A6c.926A>C (p.Lys309Thr)
n.1708A>C
c.773A>C (p.Lys258Thr)
c.749A>C (p.Lys250Thr)
c.881A>C (p.Lys294Thr)
c.899A>C (p.Lys300Thr)
c.362A>C (p.Lys121Thr)
c.779A>C (p.Lys260Thr)
n.932A>C
n.2176A>C
15g.34254541T>ACA391609591SLC12A6c.925A>T (p.Lys309Ter)
n.1707A>T
c.772A>T (p.Lys258Ter)
c.748A>T (p.Lys250Ter)
c.880A>T (p.Lys294Ter)
c.898A>T (p.Lys300Ter)
c.361A>T (p.Lys121Ter)
c.778A>T (p.Lys260Ter)
n.931A>T
n.2175A>T
15g.34254541T>CCA391609594SLC12A6c.925A>G (p.Lys309Glu)
n.1707A>G
c.772A>G (p.Lys258Glu)
c.748A>G (p.Lys250Glu)
c.880A>G (p.Lys294Glu)
c.898A>G (p.Lys300Glu)
c.361A>G (p.Lys121Glu)
c.778A>G (p.Lys260Glu)
n.931A>G
n.2175A>G
15g.34254541T>GCA391609595SLC12A6c.925A>C (p.Lys309Gln)
n.1707A>C
c.772A>C (p.Lys258Gln)
c.748A>C (p.Lys250Gln)
c.880A>C (p.Lys294Gln)
c.898A>C (p.Lys300Gln)
c.361A>C (p.Lys121Gln)
c.778A>C (p.Lys260Gln)
n.931A>C
n.2175A>C
15g.34254542G>ACA489653081SLC12A6c.924C>T (p.Leu308=)
n.1706C>T
c.771C>T (p.Leu257=)
c.747C>T (p.Leu249=)
c.879C>T (p.Leu293=)
c.897C>T (p.Leu299=)
c.360C>T (p.Leu120=)
c.777C>T (p.Leu259=)
n.930C>T
n.2174C>T
15g.34254542G>CCA7464440SLC12A6c.924C>G (p.Leu308=)
n.1706C>G
c.771C>G (p.Leu257=)
c.747C>G (p.Leu249=)
c.879C>G (p.Leu293=)
c.897C>G (p.Leu299=)
c.360C>G (p.Leu120=)
c.777C>G (p.Leu259=)
n.930C>G
n.2174C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254542G>TCA489653079SLC12A6c.924C>A (p.Leu308=)
n.1706C>A
c.771C>A (p.Leu257=)
c.747C>A (p.Leu249=)
c.879C>A (p.Leu293=)
c.897C>A (p.Leu299=)
c.360C>A (p.Leu120=)
c.777C>A (p.Leu259=)
n.930C>A
n.2174C>A
15g.34254543A>CCA391609603SLC12A6c.923T>G (p.Leu308Arg)
n.1705T>G
c.770T>G (p.Leu257Arg)
c.746T>G (p.Leu249Arg)
c.878T>G (p.Leu293Arg)
c.896T>G (p.Leu299Arg)
c.359T>G (p.Leu120Arg)
c.776T>G (p.Leu259Arg)
n.929T>G
n.2173T>G
15g.34254543A>GCA391609608SLC12A6c.923T>C (p.Leu308Pro)
n.1705T>C
c.770T>C (p.Leu257Pro)
c.746T>C (p.Leu249Pro)
c.878T>C (p.Leu293Pro)
c.896T>C (p.Leu299Pro)
c.359T>C (p.Leu120Pro)
c.776T>C (p.Leu259Pro)
n.929T>C
n.2173T>C
15g.34254543A>TCA391609610SLC12A6c.923T>A (p.Leu308His)
n.1705T>A
c.770T>A (p.Leu257His)
c.746T>A (p.Leu249His)
c.878T>A (p.Leu293His)
c.896T>A (p.Leu299His)
c.359T>A (p.Leu120His)
c.776T>A (p.Leu259His)
n.929T>A
n.2173T>A
15g.34254544G>ACA391609617SLC12A6c.922C>T (p.Leu308Phe)
n.1704C>T
c.769C>T (p.Leu257Phe)
c.745C>T (p.Leu249Phe)
c.877C>T (p.Leu293Phe)
c.895C>T (p.Leu299Phe)
c.358C>T (p.Leu120Phe)
c.775C>T (p.Leu259Phe)
n.928C>T
n.2172C>T
 gnomAD v4
15g.34254544G>CCA391609619SLC12A6c.922C>G (p.Leu308Val)
n.1704C>G
c.769C>G (p.Leu257Val)
c.745C>G (p.Leu249Val)
c.877C>G (p.Leu293Val)
c.895C>G (p.Leu299Val)
c.358C>G (p.Leu120Val)
c.775C>G (p.Leu259Val)
n.928C>G
n.2172C>G
 ClinVar
15g.34254544G>TCA391609615SLC12A6c.922C>A (p.Leu308Ile)
n.1704C>A
c.769C>A (p.Leu257Ile)
c.745C>A (p.Leu249Ile)
c.877C>A (p.Leu293Ile)
c.895C>A (p.Leu299Ile)
c.358C>A (p.Leu120Ile)
c.775C>A (p.Leu259Ile)
n.928C>A
n.2172C>A
15g.34254545T>ACA489653086SLC12A6c.921A>T (p.Ala307=)
n.1703A>T
c.768A>T (p.Ala256=)
c.744A>T (p.Ala248=)
c.876A>T (p.Ala292=)
c.894A>T (p.Ala298=)
c.357A>T (p.Ala119=)
c.774A>T (p.Ala258=)
n.927A>T
n.2171A>T
15g.34254545T>CCA489653087SLC12A6c.921A>G (p.Ala307=)
n.1703A>G
c.768A>G (p.Ala256=)
c.744A>G (p.Ala248=)
c.876A>G (p.Ala292=)
c.894A>G (p.Ala298=)
c.357A>G (p.Ala119=)
c.774A>G (p.Ala258=)
n.927A>G
n.2171A>G
 ClinVar gnomAD v4
15g.34254545T>GCA489653090SLC12A6c.921A>C (p.Ala307=)
n.1703A>C
c.768A>C (p.Ala256=)
c.744A>C (p.Ala248=)
c.876A>C (p.Ala292=)
c.894A>C (p.Ala298=)
c.357A>C (p.Ala119=)
c.774A>C (p.Ala258=)
n.927A>C
n.2171A>C
 gnomAD v4
15g.34254546G>ACA7464441SLC12A6c.920C>T (p.Ala307Val)
n.1702C>T
c.767C>T (p.Ala256Val)
c.743C>T (p.Ala248Val)
c.875C>T (p.Ala292Val)
c.893C>T (p.Ala298Val)
c.356C>T (p.Ala119Val)
c.773C>T (p.Ala258Val)
n.926C>T
n.2170C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254546G>CCA391609624SLC12A6c.920C>G (p.Ala307Gly)
n.1702C>G
c.767C>G (p.Ala256Gly)
c.743C>G (p.Ala248Gly)
c.875C>G (p.Ala292Gly)
c.893C>G (p.Ala298Gly)
c.356C>G (p.Ala119Gly)
c.773C>G (p.Ala258Gly)
n.926C>G
n.2170C>G
15g.34254546G>TCA391609627SLC12A6c.920C>A (p.Ala307Glu)
n.1702C>A
c.767C>A (p.Ala256Glu)
c.743C>A (p.Ala248Glu)
c.875C>A (p.Ala292Glu)
c.893C>A (p.Ala298Glu)
c.356C>A (p.Ala119Glu)
c.773C>A (p.Ala258Glu)
n.926C>A
n.2170C>A
 gnomAD v4
15g.34254547C>ACA7464442SLC12A6c.919G>T (p.Ala307Ser)
n.1701G>T
c.766G>T (p.Ala256Ser)
c.742G>T (p.Ala248Ser)
c.874G>T (p.Ala292Ser)
c.892G>T (p.Ala298Ser)
c.355G>T (p.Ala119Ser)
c.772G>T (p.Ala258Ser)
n.925G>T
n.2169G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.34254547C>GCA391609633SLC12A6c.919G>C (p.Ala307Pro)
n.1701G>C
c.766G>C (p.Ala256Pro)
c.742G>C (p.Ala248Pro)
c.874G>C (p.Ala292Pro)
c.892G>C (p.Ala298Pro)
c.355G>C (p.Ala119Pro)
c.772G>C (p.Ala258Pro)
n.925G>C
n.2169G>C
15g.34254547C>TCA391609636SLC12A6c.919G>A (p.Ala307Thr)
n.1701G>A
c.766G>A (p.Ala256Thr)
c.742G>A (p.Ala248Thr)
c.874G>A (p.Ala292Thr)
c.892G>A (p.Ala298Thr)
c.355G>A (p.Ala119Thr)
c.772G>A (p.Ala258Thr)
n.925G>A
n.2169G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.34254548G>ACA7464443SLC12A6c.918C>T (p.Asp306=)
n.1700C>T
c.765C>T (p.Asp255=)
c.741C>T (p.Asp247=)
c.873C>T (p.Asp291=)
c.891C>T (p.Asp297=)
c.354C>T (p.Asp118=)
c.771C>T (p.Asp257=)
n.924C>T
n.2168C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254548G>CCA391609640SLC12A6c.918C>G (p.Asp306Glu)
n.1700C>G
c.765C>G (p.Asp255Glu)
c.741C>G (p.Asp247Glu)
c.873C>G (p.Asp291Glu)
c.891C>G (p.Asp297Glu)
c.354C>G (p.Asp118Glu)
c.771C>G (p.Asp257Glu)
n.924C>G
n.2168C>G
15g.34254548G>TCA391609644SLC12A6c.918C>A (p.Asp306Glu)
n.1700C>A
c.765C>A (p.Asp255Glu)
c.741C>A (p.Asp247Glu)
c.873C>A (p.Asp291Glu)
c.891C>A (p.Asp297Glu)
c.354C>A (p.Asp118Glu)
c.771C>A (p.Asp257Glu)
n.924C>A
n.2168C>A
 gnomAD v4
15g.34254549T>ACA391609648SLC12A6c.917A>T (p.Asp306Val)
n.1699A>T
c.764A>T (p.Asp255Val)
c.740A>T (p.Asp247Val)
c.872A>T (p.Asp291Val)
c.890A>T (p.Asp297Val)
c.353A>T (p.Asp118Val)
c.770A>T (p.Asp257Val)
n.923A>T
n.2167A>T
15g.34254549T>CCA391609650SLC12A6c.917A>G (p.Asp306Gly)
n.1699A>G
c.764A>G (p.Asp255Gly)
c.740A>G (p.Asp247Gly)
c.872A>G (p.Asp291Gly)
c.890A>G (p.Asp297Gly)
c.353A>G (p.Asp118Gly)
c.770A>G (p.Asp257Gly)
n.923A>G
n.2167A>G
15g.34254549T>GCA391609653SLC12A6c.917A>C (p.Asp306Ala)
n.1699A>C
c.764A>C (p.Asp255Ala)
c.740A>C (p.Asp247Ala)
c.872A>C (p.Asp291Ala)
c.890A>C (p.Asp297Ala)
c.353A>C (p.Asp118Ala)
c.770A>C (p.Asp257Ala)
n.923A>C
n.2167A>C
15g.34254550C>ACA391609659SLC12A6c.916G>T (p.Asp306Tyr)
n.1698G>T
c.763G>T (p.Asp255Tyr)
c.739G>T (p.Asp247Tyr)
c.871G>T (p.Asp291Tyr)
c.889G>T (p.Asp297Tyr)
c.352G>T (p.Asp118Tyr)
c.769G>T (p.Asp257Tyr)
n.922G>T
n.2166G>T
15g.34254550C>GCA268639497SLC12A6c.916G>C (p.Asp306His)
n.1698G>C
c.763G>C (p.Asp255His)
c.739G>C (p.Asp247His)
c.871G>C (p.Asp291His)
c.889G>C (p.Asp297His)
c.352G>C (p.Asp118His)
c.769G>C (p.Asp257His)
n.922G>C
n.2166G>C
 dbSNP
15g.34254550C>TCA391609656SLC12A6c.916G>A (p.Asp306Asn)
n.1698G>A
c.763G>A (p.Asp255Asn)
c.739G>A (p.Asp247Asn)
c.871G>A (p.Asp291Asn)
c.889G>A (p.Asp297Asn)
c.352G>A (p.Asp118Asn)
c.769G>A (p.Asp257Asn)
n.922G>A
n.2166G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
15g.34254551A>CCA391609660SLC12A6c.915T>G (p.Asp305Glu)
n.1697T>G
c.762T>G (p.Asp254Glu)
c.738T>G (p.Asp246Glu)
c.870T>G (p.Asp290Glu)
c.888T>G (p.Asp296Glu)
c.351T>G (p.Asp117Glu)
c.768T>G (p.Asp256Glu)
n.921T>G
n.2165T>G
15g.34254551A>GCA489653102SLC12A6c.915T>C (p.Asp305=)
n.1697T>C
c.762T>C (p.Asp254=)
c.738T>C (p.Asp246=)
c.870T>C (p.Asp290=)
c.888T>C (p.Asp296=)
c.351T>C (p.Asp117=)
c.768T>C (p.Asp256=)
n.921T>C
n.2165T>C
 COSMIC COSMIC COSMIC
15g.34254551A>TCA391609661SLC12A6c.915T>A (p.Asp305Glu)
n.1697T>A
c.762T>A (p.Asp254Glu)
c.738T>A (p.Asp246Glu)
c.870T>A (p.Asp290Glu)
c.888T>A (p.Asp296Glu)
c.351T>A (p.Asp117Glu)
c.768T>A (p.Asp256Glu)
n.921T>A
n.2165T>A
15g.34254552T>ACA391609662SLC12A6c.914A>T (p.Asp305Val)
n.1696A>T
c.761A>T (p.Asp254Val)
c.737A>T (p.Asp246Val)
c.869A>T (p.Asp290Val)
c.887A>T (p.Asp296Val)
c.350A>T (p.Asp117Val)
c.767A>T (p.Asp256Val)
n.920A>T
n.2164A>T
15g.34254552T>CCA391609663SLC12A6c.914A>G (p.Asp305Gly)
n.1696A>G
c.761A>G (p.Asp254Gly)
c.737A>G (p.Asp246Gly)
c.869A>G (p.Asp290Gly)
c.887A>G (p.Asp296Gly)
c.350A>G (p.Asp117Gly)
c.767A>G (p.Asp256Gly)
n.920A>G
n.2164A>G
 gnomAD v4
15g.34254552T>GCA391609664SLC12A6c.914A>C (p.Asp305Ala)
n.1696A>C
c.761A>C (p.Asp254Ala)
c.737A>C (p.Asp246Ala)
c.869A>C (p.Asp290Ala)
c.887A>C (p.Asp296Ala)
c.350A>C (p.Asp117Ala)
c.767A>C (p.Asp256Ala)
n.920A>C
n.2164A>C
15g.34254553C>ACA391609667SLC12A6c.913G>T (p.Asp305Tyr)
n.1695G>T
c.760G>T (p.Asp254Tyr)
c.736G>T (p.Asp246Tyr)
c.868G>T (p.Asp290Tyr)
c.886G>T (p.Asp296Tyr)
c.349G>T (p.Asp117Tyr)
c.766G>T (p.Asp256Tyr)
n.919G>T
n.2163G>T
15g.34254553C>GCA391609668SLC12A6c.913G>C (p.Asp305His)
n.1695G>C
c.760G>C (p.Asp254His)
c.736G>C (p.Asp246His)
c.868G>C (p.Asp290His)
c.886G>C (p.Asp296His)
c.349G>C (p.Asp117His)
c.766G>C (p.Asp256His)
n.919G>C
n.2163G>C
 gnomAD v4
15g.34254553C>TCA391609672SLC12A6c.913G>A (p.Asp305Asn)
n.1695G>A
c.760G>A (p.Asp254Asn)
c.736G>A (p.Asp246Asn)
c.868G>A (p.Asp290Asn)
c.886G>A (p.Asp296Asn)
c.349G>A (p.Asp117Asn)
c.766G>A (p.Asp256Asn)
n.919G>A
n.2163G>A
15g.34254554A>CCA391609675SLC12A6c.912T>G (p.Ser304Arg)
n.1694T>G
c.759T>G (p.Ser253Arg)
c.735T>G (p.Ser245Arg)
c.867T>G (p.Ser289Arg)
c.885T>G (p.Ser295Arg)
c.348T>G (p.Ser116Arg)
c.765T>G (p.Ser255Arg)
n.918T>G
n.2162T>G
15g.34254554A>GCA268639502SLC12A6c.912T>C (p.Ser304=)
n.1694T>C
c.759T>C (p.Ser253=)
c.735T>C (p.Ser245=)
c.867T>C (p.Ser289=)
c.885T>C (p.Ser295=)
c.348T>C (p.Ser116=)
c.765T>C (p.Ser255=)
n.918T>C
n.2162T>C
 ClinVar dbSNP gnomAD v4
15g.34254554A>TCA391609677SLC12A6c.912T>A (p.Ser304Arg)
n.1694T>A
c.759T>A (p.Ser253Arg)
c.735T>A (p.Ser245Arg)
c.867T>A (p.Ser289Arg)
c.885T>A (p.Ser295Arg)
c.348T>A (p.Ser116Arg)
c.765T>A (p.Ser255Arg)
n.918T>A
n.2162T>A
15g.34254555C>ACA391609681SLC12A6c.911G>T (p.Ser304Ile)
n.1693G>T
c.758G>T (p.Ser253Ile)
c.734G>T (p.Ser245Ile)
c.866G>T (p.Ser289Ile)
c.884G>T (p.Ser295Ile)
c.347G>T (p.Ser116Ile)
c.764G>T (p.Ser255Ile)
n.917G>T
n.2161G>T
15g.34254555C>GCA391609684SLC12A6c.911G>C (p.Ser304Thr)
n.1693G>C
c.758G>C (p.Ser253Thr)
c.734G>C (p.Ser245Thr)
c.866G>C (p.Ser289Thr)
c.884G>C (p.Ser295Thr)
c.347G>C (p.Ser116Thr)
c.764G>C (p.Ser255Thr)
n.917G>C
n.2161G>C
15g.34254555C>TCA391609686SLC12A6c.911G>A (p.Ser304Asn)
n.1693G>A
c.758G>A (p.Ser253Asn)
c.734G>A (p.Ser245Asn)
c.866G>A (p.Ser289Asn)
c.884G>A (p.Ser295Asn)
c.347G>A (p.Ser116Asn)
c.764G>A (p.Ser255Asn)
n.917G>A
n.2161G>A
 dbSNP gnomAD v2 gnomAD v4
15g.34254556T>ACA391609693SLC12A6c.910A>T (p.Ser304Cys)
n.1692A>T
c.757A>T (p.Ser253Cys)
c.733A>T (p.Ser245Cys)
c.865A>T (p.Ser289Cys)
c.883A>T (p.Ser295Cys)
c.346A>T (p.Ser116Cys)
c.763A>T (p.Ser255Cys)
n.916A>T
n.2160A>T
15g.34254556T>CCA391609695SLC12A6c.910A>G (p.Ser304Gly)
n.1692A>G
c.757A>G (p.Ser253Gly)
c.733A>G (p.Ser245Gly)
c.865A>G (p.Ser289Gly)
c.883A>G (p.Ser295Gly)
c.346A>G (p.Ser116Gly)
c.763A>G (p.Ser255Gly)
n.916A>G
n.2160A>G
15g.34254556T>GCA391609691SLC12A6c.910A>C (p.Ser304Arg)
n.1692A>C
c.757A>C (p.Ser253Arg)
c.733A>C (p.Ser245Arg)
c.865A>C (p.Ser289Arg)
c.883A>C (p.Ser295Arg)
c.346A>C (p.Ser116Arg)
c.763A>C (p.Ser255Arg)
n.916A>C
n.2160A>C
15g.34254557G>ACA489653113SLC12A6c.909C>T (p.His303=)
n.1691C>T
c.756C>T (p.His252=)
c.732C>T (p.His244=)
c.864C>T (p.His288=)
c.882C>T (p.His294=)
c.345C>T (p.His115=)
c.762C>T (p.His254=)
n.915C>T
n.2159C>T
15g.34254557G>CCA391609700SLC12A6c.909C>G (p.His303Gln)
n.1691C>G
c.756C>G (p.His252Gln)
c.732C>G (p.His244Gln)
c.864C>G (p.His288Gln)
c.882C>G (p.His294Gln)
c.345C>G (p.His115Gln)
c.762C>G (p.His254Gln)
n.915C>G
n.2159C>G
 dbSNP gnomAD v3 gnomAD v4
15g.34254557G>TCA391609702SLC12A6c.909C>A (p.His303Gln)
n.1691C>A
c.756C>A (p.His252Gln)
c.732C>A (p.His244Gln)
c.864C>A (p.His288Gln)
c.882C>A (p.His294Gln)
c.345C>A (p.His115Gln)
c.762C>A (p.His254Gln)
n.915C>A
n.2159C>A
15g.34254558_34254567delCA2695197246SLC12A6c.900_909del (p.Ile301ValfsTer12)
n.1682_1691del
c.747_756del (p.Ile250ValfsTer12)
c.723_732del (p.Ile242ValfsTer12)
c.855_864del (p.Ile286ValfsTer12)
c.873_882del (p.Ile292ValfsTer12)
c.336_345del (p.Ile113ValfsTer12)
c.753_762del (p.Ile252ValfsTer12)
n.906_915del
n.2150_2159del
 ClinVar
15g.34254558T>ACA391609706SLC12A6c.908A>T (p.His303Leu)
n.1690A>T
c.755A>T (p.His252Leu)
c.731A>T (p.His244Leu)
c.863A>T (p.His288Leu)
c.881A>T (p.His294Leu)
c.344A>T (p.His115Leu)
c.761A>T (p.His254Leu)
n.914A>T
n.2158A>T
15g.34254558T>CCA391609708SLC12A6c.908A>G (p.His303Arg)
n.1690A>G
c.755A>G (p.His252Arg)
c.731A>G (p.His244Arg)
c.863A>G (p.His288Arg)
c.881A>G (p.His294Arg)
c.344A>G (p.His115Arg)
c.761A>G (p.His254Arg)
n.914A>G
n.2158A>G
15g.34254558T>GCA391609710SLC12A6c.908A>C (p.His303Pro)
n.1690A>C
c.755A>C (p.His252Pro)
c.731A>C (p.His244Pro)
c.863A>C (p.His288Pro)
c.881A>C (p.His294Pro)
c.344A>C (p.His115Pro)
c.761A>C (p.His254Pro)
n.914A>C
n.2158A>C
15g.34254559G>ACA391609714SLC12A6c.907C>T (p.His303Tyr)
n.1689C>T
c.754C>T (p.His252Tyr)
c.730C>T (p.His244Tyr)
c.862C>T (p.His288Tyr)
c.880C>T (p.His294Tyr)
c.343C>T (p.His115Tyr)
c.760C>T (p.His254Tyr)
n.913C>T
n.2157C>T
 COSMIC COSMIC COSMIC
15g.34254559G>CCA391609717SLC12A6c.907C>G (p.His303Asp)
n.1689C>G
c.754C>G (p.His252Asp)
c.730C>G (p.His244Asp)
c.862C>G (p.His288Asp)
c.880C>G (p.His294Asp)
c.343C>G (p.His115Asp)
c.760C>G (p.His254Asp)
n.913C>G
n.2157C>G
15g.34254559G>TCA7464444SLC12A6c.907C>A (p.His303Asn)
n.1689C>A
c.754C>A (p.His252Asn)
c.730C>A (p.His244Asn)
c.862C>A (p.His288Asn)
c.880C>A (p.His294Asn)
c.343C>A (p.His115Asn)
c.760C>A (p.His254Asn)
n.913C>A
n.2157C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.34254560A>CCA391609723SLC12A6c.906T>G (p.Phe302Leu)
n.1688T>G
c.753T>G (p.Phe251Leu)
c.729T>G (p.Phe243Leu)
c.861T>G (p.Phe287Leu)
c.879T>G (p.Phe293Leu)
c.342T>G (p.Phe114Leu)
c.759T>G (p.Phe253Leu)
n.912T>G
n.2156T>G
15g.34254560A>GCA489653123SLC12A6c.906T>C (p.Phe302=)
n.1688T>C
c.753T>C (p.Phe251=)
c.729T>C (p.Phe243=)
c.861T>C (p.Phe287=)
c.879T>C (p.Phe293=)
c.342T>C (p.Phe114=)
c.759T>C (p.Phe253=)
n.912T>C
n.2156T>C
 ClinVar
15g.34254560A>TCA391609725SLC12A6c.906T>A (p.Phe302Leu)
n.1688T>A
c.753T>A (p.Phe251Leu)
c.729T>A (p.Phe243Leu)
c.861T>A (p.Phe287Leu)
c.879T>A (p.Phe293Leu)
c.342T>A (p.Phe114Leu)
c.759T>A (p.Phe253Leu)
n.912T>A
n.2156T>A
15g.34254561A>CCA391609728SLC12A6c.905T>G (p.Phe302Cys)
n.1687T>G
c.752T>G (p.Phe251Cys)
c.728T>G (p.Phe243Cys)
c.860T>G (p.Phe287Cys)
c.878T>G (p.Phe293Cys)
c.341T>G (p.Phe114Cys)
c.758T>G (p.Phe253Cys)
n.911T>G
n.2155T>G
15g.34254561A>GCA391609731SLC12A6c.905T>C (p.Phe302Ser)
n.1687T>C
c.752T>C (p.Phe251Ser)
c.728T>C (p.Phe243Ser)
c.860T>C (p.Phe287Ser)
c.878T>C (p.Phe293Ser)
c.341T>C (p.Phe114Ser)
c.758T>C (p.Phe253Ser)
n.911T>C
n.2155T>C
15g.34254561A>TCA391609734SLC12A6c.905T>A (p.Phe302Tyr)
n.1687T>A
c.752T>A (p.Phe251Tyr)
c.728T>A (p.Phe243Tyr)
c.860T>A (p.Phe287Tyr)
c.878T>A (p.Phe293Tyr)
c.341T>A (p.Phe114Tyr)
c.758T>A (p.Phe253Tyr)
n.911T>A
n.2155T>A
15g.34254562A>CCA391609739SLC12A6c.904T>G (p.Phe302Val)
n.1686T>G
c.751T>G (p.Phe251Val)
c.727T>G (p.Phe243Val)
c.859T>G (p.Phe287Val)
c.877T>G (p.Phe293Val)
c.340T>G (p.Phe114Val)
c.757T>G (p.Phe253Val)
n.910T>G
n.2154T>G
15g.34254562A>GCA391609737SLC12A6c.904T>C (p.Phe302Leu)
n.1686T>C
c.751T>C (p.Phe251Leu)
c.727T>C (p.Phe243Leu)
c.859T>C (p.Phe287Leu)
c.877T>C (p.Phe293Leu)
c.340T>C (p.Phe114Leu)
c.757T>C (p.Phe253Leu)
n.910T>C
n.2154T>C
15g.34254562A>TCA7464445SLC12A6c.904T>A (p.Phe302Ile)
n.1686T>A
c.751T>A (p.Phe251Ile)
c.727T>A (p.Phe243Ile)
c.859T>A (p.Phe287Ile)
c.877T>A (p.Phe293Ile)
c.340T>A (p.Phe114Ile)
c.757T>A (p.Phe253Ile)
n.910T>A
n.2154T>A
 dbSNP ExAC gnomAD v2
15g.34254563G>ACA489653130SLC12A6c.903C>T (p.Ile301=)
n.1685C>T
c.750C>T (p.Ile250=)
c.726C>T (p.Ile242=)
c.858C>T (p.Ile286=)
c.876C>T (p.Ile292=)
c.339C>T (p.Ile113=)
c.756C>T (p.Ile252=)
n.909C>T
n.2153C>T
15g.34254563G>CCA391609741SLC12A6c.903C>G (p.Ile301Met)
n.1685C>G
c.750C>G (p.Ile250Met)
c.726C>G (p.Ile242Met)
c.858C>G (p.Ile286Met)
c.876C>G (p.Ile292Met)
c.339C>G (p.Ile113Met)
c.756C>G (p.Ile252Met)
n.909C>G
n.2153C>G
 dbSNP
15g.34254563G>TCA489653132SLC12A6c.903C>A (p.Ile301=)
n.1685C>A
c.750C>A (p.Ile250=)
c.726C>A (p.Ile242=)
c.858C>A (p.Ile286=)
c.876C>A (p.Ile292=)
c.339C>A (p.Ile113=)
c.756C>A (p.Ile252=)
n.909C>A
n.2153C>A
 COSMIC COSMIC COSMIC
15g.34254564A>CCA391609744SLC12A6c.902T>G (p.Ile301Ser)
n.1684T>G
c.749T>G (p.Ile250Ser)
c.725T>G (p.Ile242Ser)
c.857T>G (p.Ile286Ser)
c.875T>G (p.Ile292Ser)
c.338T>G (p.Ile113Ser)
c.755T>G (p.Ile252Ser)
n.908T>G
n.2152T>G
15g.34254564A>GCA391609746SLC12A6c.902T>C (p.Ile301Thr)
n.1684T>C
c.749T>C (p.Ile250Thr)
c.725T>C (p.Ile242Thr)
c.857T>C (p.Ile286Thr)
c.875T>C (p.Ile292Thr)
c.338T>C (p.Ile113Thr)
c.755T>C (p.Ile252Thr)
n.908T>C
n.2152T>C
15g.34254564A>TCA391609749SLC12A6c.902T>A (p.Ile301Asn)
n.1684T>A
c.749T>A (p.Ile250Asn)
c.725T>A (p.Ile242Asn)
c.857T>A (p.Ile286Asn)
c.875T>A (p.Ile292Asn)
c.338T>A (p.Ile113Asn)
c.755T>A (p.Ile252Asn)
n.908T>A
n.2152T>A
15g.34254565delCA253466SLC12A6c.901del (p.Ile301SerfsTer15)
n.1683del
c.748del (p.Ile250SerfsTer15)
c.724del (p.Ile242SerfsTer15)
c.856del (p.Ile286SerfsTer15)
c.874del (p.Ile292SerfsTer15)
c.337del (p.Ile113SerfsTer15)
c.754del (p.Ile252SerfsTer15)
n.907del
n.2151del
 ClinVar dbSNP
15g.34254565T>ACA391609753SLC12A6c.901A>T (p.Ile301Phe)
n.1683A>T
c.748A>T (p.Ile250Phe)
c.724A>T (p.Ile242Phe)
c.856A>T (p.Ile286Phe)
c.874A>T (p.Ile292Phe)
c.337A>T (p.Ile113Phe)
c.754A>T (p.Ile252Phe)
n.907A>T
n.2151A>T
15g.34254565T>CCA7464446SLC12A6c.901A>G (p.Ile301Val)
n.1683A>G
c.748A>G (p.Ile250Val)
c.724A>G (p.Ile242Val)
c.856A>G (p.Ile286Val)
c.874A>G (p.Ile292Val)
c.337A>G (p.Ile113Val)
c.754A>G (p.Ile252Val)
n.907A>G
n.2151A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254565T>GCA391609757SLC12A6c.901A>C (p.Ile301Leu)
n.1683A>C
c.748A>C (p.Ile250Leu)
c.724A>C (p.Ile242Leu)
c.856A>C (p.Ile286Leu)
c.874A>C (p.Ile292Leu)
c.337A>C (p.Ile113Leu)
c.754A>C (p.Ile252Leu)
n.907A>C
n.2151A>C
15g.34254566G>ACA489653145SLC12A6c.900C>T (p.Ala300=)
n.1682C>T
c.747C>T (p.Ala249=)
c.723C>T (p.Ala241=)
c.855C>T (p.Ala285=)
c.873C>T (p.Ala291=)
c.336C>T (p.Ala112=)
c.753C>T (p.Ala251=)
n.906C>T
n.2150C>T
15g.34254566G>CCA489653146SLC12A6c.900C>G (p.Ala300=)
n.1682C>G
c.747C>G (p.Ala249=)
c.723C>G (p.Ala241=)
c.855C>G (p.Ala285=)
c.873C>G (p.Ala291=)
c.336C>G (p.Ala112=)
c.753C>G (p.Ala251=)
n.906C>G
n.2150C>G
15g.34254566G>TCA489653147SLC12A6c.900C>A (p.Ala300=)
n.1682C>A
c.747C>A (p.Ala249=)
c.723C>A (p.Ala241=)
c.855C>A (p.Ala285=)
c.873C>A (p.Ala291=)
c.336C>A (p.Ala112=)
c.753C>A (p.Ala251=)
n.906C>A
n.2150C>A
15g.34254567G>ACA391609762SLC12A6c.899C>T (p.Ala300Val)
n.1681C>T
c.746C>T (p.Ala249Val)
c.722C>T (p.Ala241Val)
c.854C>T (p.Ala285Val)
c.872C>T (p.Ala291Val)
c.335C>T (p.Ala112Val)
c.752C>T (p.Ala251Val)
n.905C>T
n.2149C>T
15g.34254567G>CCA391609765SLC12A6c.899C>G (p.Ala300Gly)
n.1681C>G
c.746C>G (p.Ala249Gly)
c.722C>G (p.Ala241Gly)
c.854C>G (p.Ala285Gly)
c.872C>G (p.Ala291Gly)
c.335C>G (p.Ala112Gly)
c.752C>G (p.Ala251Gly)
n.905C>G
n.2149C>G
15g.34254567G>TCA391609767SLC12A6c.899C>A (p.Ala300Asp)
n.1681C>A
c.746C>A (p.Ala249Asp)
c.722C>A (p.Ala241Asp)
c.854C>A (p.Ala285Asp)
c.872C>A (p.Ala291Asp)
c.335C>A (p.Ala112Asp)
c.752C>A (p.Ala251Asp)
n.905C>A
n.2149C>A
15g.34254568C>ACA391609771SLC12A6c.898G>T (p.Ala300Ser)
n.1680G>T
c.745G>T (p.Ala249Ser)
c.721G>T (p.Ala241Ser)
c.853G>T (p.Ala285Ser)
c.871G>T (p.Ala291Ser)
c.334G>T (p.Ala112Ser)
c.751G>T (p.Ala251Ser)
n.904G>T
n.2148G>T
15g.34254568C>GCA391609774SLC12A6c.898G>C (p.Ala300Pro)
n.1680G>C
c.745G>C (p.Ala249Pro)
c.721G>C (p.Ala241Pro)
c.853G>C (p.Ala285Pro)
c.871G>C (p.Ala291Pro)
c.334G>C (p.Ala112Pro)
c.751G>C (p.Ala251Pro)
n.904G>C
n.2148G>C
 gnomAD v4
15g.34254568C>TCA391609777SLC12A6c.898G>A (p.Ala300Thr)
n.1680G>A
c.745G>A (p.Ala249Thr)
c.721G>A (p.Ala241Thr)
c.853G>A (p.Ala285Thr)
c.871G>A (p.Ala291Thr)
c.334G>A (p.Ala112Thr)
c.751G>A (p.Ala251Thr)
n.904G>A
n.2148G>A
 gnomAD v4
15g.34254569A>CCA489653160SLC12A6c.897T>G (p.Ala299=)
n.1679T>G
c.744T>G (p.Ala248=)
c.720T>G (p.Ala240=)
c.852T>G (p.Ala284=)
c.870T>G (p.Ala290=)
c.333T>G (p.Ala111=)
c.750T>G (p.Ala250=)
n.903T>G
n.2147T>G
15g.34254569A>GCA268639524SLC12A6c.897T>C (p.Ala299=)
n.1679T>C
c.744T>C (p.Ala248=)
c.720T>C (p.Ala240=)
c.852T>C (p.Ala284=)
c.870T>C (p.Ala290=)
c.333T>C (p.Ala111=)
c.750T>C (p.Ala250=)
n.903T>C
n.2147T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.34254569A>TCA489653161SLC12A6c.897T>A (p.Ala299=)
n.1679T>A
c.744T>A (p.Ala248=)
c.720T>A (p.Ala240=)
c.852T>A (p.Ala284=)
c.870T>A (p.Ala290=)
c.333T>A (p.Ala111=)
c.750T>A (p.Ala250=)
n.903T>A
n.2147T>A
15g.34254570G>ACA391609784SLC12A6c.896C>T (p.Ala299Val)
n.1678C>T
c.743C>T (p.Ala248Val)
c.719C>T (p.Ala240Val)
c.851C>T (p.Ala284Val)
c.869C>T (p.Ala290Val)
c.332C>T (p.Ala111Val)
c.749C>T (p.Ala250Val)
n.902C>T
n.2146C>T
 gnomAD v4
15g.34254570G>CCA391609786SLC12A6c.896C>G (p.Ala299Gly)
n.1678C>G
c.743C>G (p.Ala248Gly)
c.719C>G (p.Ala240Gly)
c.851C>G (p.Ala284Gly)
c.869C>G (p.Ala290Gly)
c.332C>G (p.Ala111Gly)
c.749C>G (p.Ala250Gly)
n.902C>G
n.2146C>G
 gnomAD v4
15g.34254570G>TCA391609782SLC12A6c.896C>A (p.Ala299Asp)
n.1678C>A
c.743C>A (p.Ala248Asp)
c.719C>A (p.Ala240Asp)
c.851C>A (p.Ala284Asp)
c.869C>A (p.Ala290Asp)
c.332C>A (p.Ala111Asp)
c.749C>A (p.Ala250Asp)
n.902C>A
n.2146C>A
 gnomAD v4
15g.34254571C>ACA391609790SLC12A6c.895G>T (p.Ala299Ser)
n.1677G>T
c.742G>T (p.Ala248Ser)
c.718G>T (p.Ala240Ser)
c.850G>T (p.Ala284Ser)
c.868G>T (p.Ala290Ser)
c.331G>T (p.Ala111Ser)
c.748G>T (p.Ala250Ser)
n.901G>T
n.2145G>T
15g.34254571C>GCA391609792SLC12A6c.895G>C (p.Ala299Pro)
n.1677G>C
c.742G>C (p.Ala248Pro)
c.718G>C (p.Ala240Pro)
c.850G>C (p.Ala284Pro)
c.868G>C (p.Ala290Pro)
c.331G>C (p.Ala111Pro)
c.748G>C (p.Ala250Pro)
n.901G>C
n.2145G>C
15g.34254571C>TCA391609795SLC12A6c.895G>A (p.Ala299Thr)
n.1677G>A
c.742G>A (p.Ala248Thr)
c.718G>A (p.Ala240Thr)
c.850G>A (p.Ala284Thr)
c.868G>A (p.Ala290Thr)
c.331G>A (p.Ala111Thr)
c.748G>A (p.Ala250Thr)
n.901G>A
n.2145G>A
15g.34254572T>ACA489653169SLC12A6c.894A>T (p.Arg298=)
n.1676A>T
c.741A>T (p.Arg247=)
c.717A>T (p.Arg239=)
c.849A>T (p.Arg283=)
c.867A>T (p.Arg289=)
c.330A>T (p.Arg110=)
c.747A>T (p.Arg249=)
n.900A>T
n.2144A>T
15g.34254572T>CCA268639528SLC12A6c.894A>G (p.Arg298=)
n.1676A>G
c.741A>G (p.Arg247=)
c.717A>G (p.Arg239=)
c.849A>G (p.Arg283=)
c.867A>G (p.Arg289=)
c.330A>G (p.Arg110=)
c.747A>G (p.Arg249=)
n.900A>G
n.2144A>G
 dbSNP gnomAD v4
15g.34254572T>GCA489653166SLC12A6c.894A>C (p.Arg298=)
n.1676A>C
c.741A>C (p.Arg247=)
c.717A>C (p.Arg239=)
c.849A>C (p.Arg283=)
c.867A>C (p.Arg289=)
c.330A>C (p.Arg110=)
c.747A>C (p.Arg249=)
n.900A>C
n.2144A>C
15g.34254573C>ACA268639536SLC12A6c.893G>T (p.Arg298Leu)
n.1675G>T
c.740G>T (p.Arg247Leu)
c.716G>T (p.Arg239Leu)
c.848G>T (p.Arg283Leu)
c.866G>T (p.Arg289Leu)
c.329G>T (p.Arg110Leu)
c.746G>T (p.Arg249Leu)
n.899G>T
n.2143G>T
 dbSNP gnomAD v4
15g.34254573C>GCA391609802SLC12A6c.893G>C (p.Arg298Pro)
n.1675G>C
c.740G>C (p.Arg247Pro)
c.716G>C (p.Arg239Pro)
c.848G>C (p.Arg283Pro)
c.866G>C (p.Arg289Pro)
c.329G>C (p.Arg110Pro)
c.746G>C (p.Arg249Pro)
n.899G>C
n.2143G>C
15g.34254573C>TCA7464447SLC12A6c.893G>A (p.Arg298Gln)
n.1675G>A
c.740G>A (p.Arg247Gln)
c.716G>A (p.Arg239Gln)
c.848G>A (p.Arg283Gln)
c.866G>A (p.Arg289Gln)
c.329G>A (p.Arg110Gln)
c.746G>A (p.Arg249Gln)
n.899G>A
n.2143G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
15g.34254574G>ACA268639556SLC12A6c.892C>T (p.Arg298Ter)
n.1674C>T
c.739C>T (p.Arg247Ter)
c.715C>T (p.Arg239Ter)
c.847C>T (p.Arg283Ter)
c.865C>T (p.Arg289Ter)
c.328C>T (p.Arg110Ter)
c.745C>T (p.Arg249Ter)
n.898C>T
n.2142C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.34254574G>CCA391609809SLC12A6c.892C>G (p.Arg298Gly)
n.1674C>G
c.739C>G (p.Arg247Gly)
c.715C>G (p.Arg239Gly)
c.847C>G (p.Arg283Gly)
c.865C>G (p.Arg289Gly)
c.328C>G (p.Arg110Gly)
c.745C>G (p.Arg249Gly)
n.898C>G
n.2142C>G
15g.34254574G>TCA489653178SLC12A6c.892C>A (p.Arg298=)
n.1674C>A
c.739C>A (p.Arg247=)
c.715C>A (p.Arg239=)
c.847C>A (p.Arg283=)
c.865C>A (p.Arg289=)
c.328C>A (p.Arg110=)
c.745C>A (p.Arg249=)
n.898C>A
n.2142C>A
15g.34254578delCA2627631658SLC12A6c.892del (p.Arg298GlufsTer18)
n.1674del
c.739del (p.Arg247GlufsTer18)
c.715del (p.Arg239GlufsTer18)
c.847del (p.Arg283GlufsTer18)
c.865del (p.Arg289GlufsTer18)
c.328del (p.Arg110GlufsTer18)
c.745del (p.Arg249GlufsTer18)
n.898del
n.2142del
 gnomAD v4
15g.34254575G>ACA489653182SLC12A6c.891C>T (p.Pro297=)
n.1673C>T
c.738C>T (p.Pro246=)
c.714C>T (p.Pro238=)
c.846C>T (p.Pro282=)
c.864C>T (p.Pro288=)
c.327C>T (p.Pro109=)
c.744C>T (p.Pro248=)
n.897C>T
n.2141C>T
 ClinVar dbSNP
15g.34254575G>CCA489653181SLC12A6c.891C>G (p.Pro297=)
n.1673C>G
c.738C>G (p.Pro246=)
c.714C>G (p.Pro238=)
c.846C>G (p.Pro282=)
c.864C>G (p.Pro288=)
c.327C>G (p.Pro109=)
c.744C>G (p.Pro248=)
n.897C>G
n.2141C>G
 ClinVar dbSNP
15g.34254575G>TCA489653180SLC12A6c.891C>A (p.Pro297=)
n.1673C>A
c.738C>A (p.Pro246=)
c.714C>A (p.Pro238=)
c.846C>A (p.Pro282=)
c.864C>A (p.Pro288=)
c.327C>A (p.Pro109=)
c.744C>A (p.Pro248=)
n.897C>A
n.2141C>A
 ClinVar dbSNP
15g.34254576G>ACA391609810SLC12A6c.890C>T (p.Pro297Leu)
n.1672C>T
c.737C>T (p.Pro246Leu)
c.713C>T (p.Pro238Leu)
c.845C>T (p.Pro282Leu)
c.863C>T (p.Pro288Leu)
c.326C>T (p.Pro109Leu)
c.743C>T (p.Pro248Leu)
n.896C>T
n.2140C>T
15g.34254576G>CCA391609811SLC12A6c.890C>G (p.Pro297Arg)
n.1672C>G
c.737C>G (p.Pro246Arg)
c.713C>G (p.Pro238Arg)
c.845C>G (p.Pro282Arg)
c.863C>G (p.Pro288Arg)
c.326C>G (p.Pro109Arg)
c.743C>G (p.Pro248Arg)
n.896C>G
n.2140C>G
 gnomAD v4
15g.34254576G>TCA268639559SLC12A6c.890C>A (p.Pro297His)
n.1672C>A
c.737C>A (p.Pro246His)
c.713C>A (p.Pro238His)
c.845C>A (p.Pro282His)
c.863C>A (p.Pro288His)
c.326C>A (p.Pro109His)
c.743C>A (p.Pro248His)
n.896C>A
n.2140C>A
 ClinVar dbSNP gnomAD v4
15g.34254577G>ACA391609818SLC12A6c.889C>T (p.Pro297Ser)
n.1671C>T
c.736C>T (p.Pro246Ser)
c.712C>T (p.Pro238Ser)
c.844C>T (p.Pro282Ser)
c.862C>T (p.Pro288Ser)
c.325C>T (p.Pro109Ser)
c.742C>T (p.Pro248Ser)
n.895C>T
n.2139C>T
 dbSNP gnomAD v4
15g.34254577G>CCA391609816SLC12A6c.889C>G (p.Pro297Ala)
n.1671C>G
c.736C>G (p.Pro246Ala)
c.712C>G (p.Pro238Ala)
c.844C>G (p.Pro282Ala)
c.862C>G (p.Pro288Ala)
c.325C>G (p.Pro109Ala)
c.742C>G (p.Pro248Ala)
n.895C>G
n.2139C>G
15g.34254577G>TCA391609814SLC12A6c.889C>A (p.Pro297Thr)
n.1671C>A
c.736C>A (p.Pro246Thr)
c.712C>A (p.Pro238Thr)
c.844C>A (p.Pro282Thr)
c.862C>A (p.Pro288Thr)
c.325C>A (p.Pro109Thr)
c.742C>A (p.Pro248Thr)
n.895C>A
n.2139C>A
 gnomAD v4
15g.34254578G>ACA489653189SLC12A6c.888C>T (p.Val296=)
n.1670C>T
c.735C>T (p.Val245=)
c.711C>T (p.Val237=)
c.843C>T (p.Val281=)
c.861C>T (p.Val287=)
c.324C>T (p.Val108=)
c.741C>T (p.Val247=)
n.894C>T
n.2138C>T
 dbSNP gnomAD v4
15g.34254578G>CCA268639563SLC12A6c.888C>G (p.Val296=)
n.1670C>G
c.735C>G (p.Val245=)
c.711C>G (p.Val237=)
c.843C>G (p.Val281=)
c.861C>G (p.Val287=)
c.324C>G (p.Val108=)
c.741C>G (p.Val247=)
n.894C>G
n.2138C>G
 dbSNP gnomAD v3 gnomAD v4
15g.34254578G>TCA489653188SLC12A6c.888C>A (p.Val296=)
n.1670C>A
c.735C>A (p.Val245=)
c.711C>A (p.Val237=)
c.843C>A (p.Val281=)
c.861C>A (p.Val287=)
c.324C>A (p.Val108=)
c.741C>A (p.Val247=)
n.894C>A
n.2138C>A
 gnomAD v4
15g.34254579A>CCA391609824SLC12A6c.887T>G (p.Val296Gly)
n.1669T>G
c.734T>G (p.Val245Gly)
c.710T>G (p.Val237Gly)
c.842T>G (p.Val281Gly)
c.860T>G (p.Val287Gly)
c.323T>G (p.Val108Gly)
c.740T>G (p.Val247Gly)
n.893T>G
n.2137T>G
15g.34254579A>GCA391609826SLC12A6c.887T>C (p.Val296Ala)
n.1669T>C
c.734T>C (p.Val245Ala)
c.710T>C (p.Val237Ala)
c.842T>C (p.Val281Ala)
c.860T>C (p.Val287Ala)
c.323T>C (p.Val108Ala)
c.740T>C (p.Val247Ala)
n.893T>C
n.2137T>C
 gnomAD v4
15g.34254579A>TCA391609830SLC12A6c.887T>A (p.Val296Asp)
n.1669T>A
c.734T>A (p.Val245Asp)
c.710T>A (p.Val237Asp)
c.842T>A (p.Val281Asp)
c.860T>A (p.Val287Asp)
c.323T>A (p.Val108Asp)
c.740T>A (p.Val247Asp)
n.893T>A
n.2137T>A
15g.34254580C>ACA391609834SLC12A6c.886G>T (p.Val296Phe)
n.1668G>T
c.733G>T (p.Val245Phe)
c.709G>T (p.Val237Phe)
c.841G>T (p.Val281Phe)
c.859G>T (p.Val287Phe)
c.322G>T (p.Val108Phe)
c.739G>T (p.Val247Phe)
n.892G>T
n.2136G>T
15g.34254580C>GCA391609837SLC12A6c.886G>C (p.Val296Leu)
n.1668G>C
c.733G>C (p.Val245Leu)
c.709G>C (p.Val237Leu)
c.841G>C (p.Val281Leu)
c.859G>C (p.Val287Leu)
c.322G>C (p.Val108Leu)
c.739G>C (p.Val247Leu)
n.892G>C
n.2136G>C
15g.34254580C>TCA7464448SLC12A6c.886G>A (p.Val296Ile)
n.1668G>A
c.733G>A (p.Val245Ile)
c.709G>A (p.Val237Ile)
c.841G>A (p.Val281Ile)
c.859G>A (p.Val287Ile)
c.322G>A (p.Val108Ile)
c.739G>A (p.Val247Ile)
n.892G>A
n.2136G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
15g.34254581G>ACA7464449SLC12A6c.885C>T (p.Ile295=)
n.1667C>T
c.732C>T (p.Ile244=)
c.708C>T (p.Ile236=)
c.840C>T (p.Ile280=)
c.858C>T (p.Ile286=)
c.321C>T (p.Ile107=)
c.738C>T (p.Ile246=)
n.891C>T
n.2135C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
15g.34254581G>CCA391609844SLC12A6c.885C>G (p.Ile295Met)
n.1667C>G
c.732C>G (p.Ile244Met)
c.708C>G (p.Ile236Met)
c.840C>G (p.Ile280Met)
c.858C>G (p.Ile286Met)
c.321C>G (p.Ile107Met)
c.738C>G (p.Ile246Met)
n.891C>G
n.2135C>G
15g.34254581G>TCA489653199SLC12A6c.885C>A (p.Ile295=)
n.1667C>A
c.732C>A (p.Ile244=)
c.708C>A (p.Ile236=)
c.840C>A (p.Ile280=)
c.858C>A (p.Ile286=)
c.321C>A (p.Ile107=)
c.738C>A (p.Ile246=)
n.891C>A
n.2135C>A
15g.34254582A>CCA391609847SLC12A6c.884T>G (p.Ile295Ser)
n.1666T>G
c.731T>G (p.Ile244Ser)
c.707T>G (p.Ile236Ser)
c.839T>G (p.Ile280Ser)
c.857T>G (p.Ile286Ser)
c.320T>G (p.Ile107Ser)
c.737T>G (p.Ile246Ser)
n.890T>G
n.2134T>G
15g.34254582A>GCA391609850SLC12A6c.884T>C (p.Ile295Thr)
n.1666T>C
c.731T>C (p.Ile244Thr)
c.707T>C (p.Ile236Thr)
c.839T>C (p.Ile280Thr)
c.857T>C (p.Ile286Thr)
c.320T>C (p.Ile107Thr)
c.737T>C (p.Ile246Thr)
n.890T>C
n.2134T>C
15g.34254582A>TCA391609851SLC12A6c.884T>A (p.Ile295Asn)
n.1666T>A
c.731T>A (p.Ile244Asn)
c.707T>A (p.Ile236Asn)
c.839T>A (p.Ile280Asn)
c.857T>A (p.Ile286Asn)
c.320T>A (p.Ile107Asn)
c.737T>A (p.Ile246Asn)
n.890T>A
n.2134T>A
15g.34254583T>ACA391609858SLC12A6c.883A>T (p.Ile295Phe)
n.1665A>T
c.730A>T (p.Ile244Phe)
c.706A>T (p.Ile236Phe)
c.838A>T (p.Ile280Phe)
c.856A>T (p.Ile286Phe)
c.319A>T (p.Ile107Phe)
c.736A>T (p.Ile246Phe)
n.889A>T
n.2133A>T
15g.34254583T>CCA391609855SLC12A6c.883A>G (p.Ile295Val)
n.1665A>G
c.730A>G (p.Ile244Val)
c.706A>G (p.Ile236Val)
c.838A>G (p.Ile280Val)
c.856A>G (p.Ile286Val)
c.319A>G (p.Ile107Val)
c.736A>G (p.Ile246Val)
n.889A>G
n.2133A>G
15g.34254583T>GCA391609852SLC12A6c.883A>C (p.Ile295Leu)
n.1665A>C
c.730A>C (p.Ile244Leu)
c.706A>C (p.Ile236Leu)
c.838A>C (p.Ile280Leu)
c.856A>C (p.Ile286Leu)
c.319A>C (p.Ile107Leu)
c.736A>C (p.Ile246Leu)
n.889A>C
n.2133A>C
15g.34254584A>CCA391609861SLC12A6c.882T>G (p.Tyr294Ter)
n.1664T>G
c.729T>G (p.Tyr243Ter)
c.705T>G (p.Tyr235Ter)
c.837T>G (p.Tyr279Ter)
c.855T>G (p.Tyr285Ter)
c.318T>G (p.Tyr106Ter)
c.735T>G (p.Tyr245Ter)
n.888T>G
n.2132T>G
15g.34254584A>GCA489653209SLC12A6c.882T>C (p.Tyr294=)
n.1664T>C
c.729T>C (p.Tyr243=)
c.705T>C (p.Tyr235=)
c.837T>C (p.Tyr279=)
c.855T>C (p.Tyr285=)
c.318T>C (p.Tyr106=)
c.735T>C (p.Tyr245=)
n.888T>C
n.2132T>C
 COSMIC COSMIC COSMIC
15g.34254584A>TCA391609865SLC12A6c.882T>A (p.Tyr294Ter)
n.1664T>A
c.729T>A (p.Tyr243Ter)
c.705T>A (p.Tyr235Ter)
c.837T>A (p.Tyr279Ter)
c.855T>A (p.Tyr285Ter)
c.318T>A (p.Tyr106Ter)
c.735T>A (p.Tyr245Ter)
n.888T>A
n.2132T>A
15g.34254585T>ACA391609869SLC12A6c.881A>T (p.Tyr294Phe)
n.1663A>T
c.728A>T (p.Tyr243Phe)
c.704A>T (p.Tyr235Phe)
c.836A>T (p.Tyr279Phe)
c.854A>T (p.Tyr285Phe)
c.317A>T (p.Tyr106Phe)
c.734A>T (p.Tyr245Phe)
n.887A>T
n.2131A>T
15g.34254585T>CCA7464450SLC12A6c.881A>G (p.Tyr294Cys)
n.1663A>G
c.728A>G (p.Tyr243Cys)
c.704A>G (p.Tyr235Cys)
c.836A>G (p.Tyr279Cys)
c.854A>G (p.Tyr285Cys)
c.317A>G (p.Tyr106Cys)
c.734A>G (p.Tyr245Cys)
n.887A>G
n.2131A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254585T>GCA391609872SLC12A6c.881A>C (p.Tyr294Ser)
n.1663A>C
c.728A>C (p.Tyr243Ser)
c.704A>C (p.Tyr235Ser)
c.836A>C (p.Tyr279Ser)
c.854A>C (p.Tyr285Ser)
c.317A>C (p.Tyr106Ser)
c.734A>C (p.Tyr245Ser)
n.887A>C
n.2131A>C
15g.34254586A>CCA391609878SLC12A6c.880T>G (p.Tyr294Asp)
n.1662T>G
c.727T>G (p.Tyr243Asp)
c.703T>G (p.Tyr235Asp)
c.835T>G (p.Tyr279Asp)
c.853T>G (p.Tyr285Asp)
c.316T>G (p.Tyr106Asp)
c.733T>G (p.Tyr245Asp)
n.886T>G
n.2130T>G
15g.34254586A>GCA391609879SLC12A6c.880T>C (p.Tyr294His)
n.1662T>C
c.727T>C (p.Tyr243His)
c.703T>C (p.Tyr235His)
c.835T>C (p.Tyr279His)
c.853T>C (p.Tyr285His)
c.316T>C (p.Tyr106His)
c.733T>C (p.Tyr245His)
n.886T>C
n.2130T>C
15g.34254586A>TCA391609882SLC12A6c.880T>A (p.Tyr294Asn)
n.1662T>A
c.727T>A (p.Tyr243Asn)
c.703T>A (p.Tyr235Asn)
c.835T>A (p.Tyr279Asn)
c.853T>A (p.Tyr285Asn)
c.316T>A (p.Tyr106Asn)
c.733T>A (p.Tyr245Asn)
n.886T>A
n.2130T>A
15g.34254587G>ACA489653213SLC12A6c.879C>T (p.Val293=)
n.1661C>T
c.726C>T (p.Val242=)
c.702C>T (p.Val234=)
c.834C>T (p.Val278=)
c.852C>T (p.Val284=)
c.315C>T (p.Val105=)
c.732C>T (p.Val244=)
n.885C>T
n.2129C>T
15g.34254587G>CCA489653211SLC12A6c.879C>G (p.Val293=)
n.1661C>G
c.726C>G (p.Val242=)
c.702C>G (p.Val234=)
c.834C>G (p.Val278=)
c.852C>G (p.Val284=)
c.315C>G (p.Val105=)
c.732C>G (p.Val244=)
n.885C>G
n.2129C>G
15g.34254587G>TCA489653212SLC12A6c.879C>A (p.Val293=)
n.1661C>A
c.726C>A (p.Val242=)
c.702C>A (p.Val234=)
c.834C>A (p.Val278=)
c.852C>A (p.Val284=)
c.315C>A (p.Val105=)
c.732C>A (p.Val244=)
n.885C>A
n.2129C>A
15g.34254588A>CCA391609885SLC12A6c.878T>G (p.Val293Gly)
n.1660T>G
c.725T>G (p.Val242Gly)
c.701T>G (p.Val234Gly)
c.833T>G (p.Val278Gly)
c.851T>G (p.Val284Gly)
c.314T>G (p.Val105Gly)
c.731T>G (p.Val244Gly)
n.884T>G
n.2128T>G
15g.34254588A>GCA391609888SLC12A6c.878T>C (p.Val293Ala)
n.1660T>C
c.725T>C (p.Val242Ala)
c.701T>C (p.Val234Ala)
c.833T>C (p.Val278Ala)
c.851T>C (p.Val284Ala)
c.314T>C (p.Val105Ala)
c.731T>C (p.Val244Ala)
n.884T>C
n.2128T>C
 dbSNP gnomAD v4
15g.34254588A>TCA391609890SLC12A6c.878T>A (p.Val293Asp)
n.1660T>A
c.725T>A (p.Val242Asp)
c.701T>A (p.Val234Asp)
c.833T>A (p.Val278Asp)
c.851T>A (p.Val284Asp)
c.314T>A (p.Val105Asp)
c.731T>A (p.Val244Asp)
n.884T>A
n.2128T>A
15g.34254589C>ACA391609892SLC12A6c.877G>T (p.Val293Phe)
n.1659G>T
c.724G>T (p.Val242Phe)
c.700G>T (p.Val234Phe)
c.832G>T (p.Val278Phe)
c.850G>T (p.Val284Phe)
c.313G>T (p.Val105Phe)
c.730G>T (p.Val244Phe)
n.883G>T
n.2127G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.34254589C>GCA391609894SLC12A6c.877G>C (p.Val293Leu)
n.1659G>C
c.724G>C (p.Val242Leu)
c.700G>C (p.Val234Leu)
c.832G>C (p.Val278Leu)
c.850G>C (p.Val284Leu)
c.313G>C (p.Val105Leu)
c.730G>C (p.Val244Leu)
n.883G>C
n.2127G>C
15g.34254589C>TCA391609897SLC12A6c.877G>A (p.Val293Ile)
n.1659G>A
c.724G>A (p.Val242Ile)
c.700G>A (p.Val234Ile)
c.832G>A (p.Val278Ile)
c.850G>A (p.Val284Ile)
c.313G>A (p.Val105Ile)
c.730G>A (p.Val244Ile)
n.883G>A
n.2127G>A
 ClinVar gnomAD v4
15g.34254590C>ACA391609900SLC12A6c.877-1G>T (n.877-1G>T)
n.1659-1G>T
c.724-1G>T (n.724-1G>T)
c.700-1G>T (n.700-1G>T)
c.832-1G>T (n.832-1G>T)
c.850-1G>T (n.850-1G>T)
c.313-1G>T (n.313-1G>T)
c.730-1G>T (n.730-1G>T)
n.883-1G>T
n.2127-1G>T
15g.34254590C>GCA391609902SLC12A6c.877-1G>C (n.877-1G>C)
n.1659-1G>C
c.724-1G>C (n.724-1G>C)
c.700-1G>C (n.700-1G>C)
c.832-1G>C (n.832-1G>C)
c.850-1G>C (n.850-1G>C)
c.313-1G>C (n.313-1G>C)
c.730-1G>C (n.730-1G>C)
n.883-1G>C
n.2127-1G>C
15g.34254590C>TCA391609905SLC12A6c.877-1G>A (n.877-1G>A)
n.1659-1G>A
c.724-1G>A (n.724-1G>A)
c.700-1G>A (n.700-1G>A)
c.832-1G>A (n.832-1G>A)
c.850-1G>A (n.850-1G>A)
c.313-1G>A (n.313-1G>A)
c.730-1G>A (n.730-1G>A)
n.883-1G>A
n.2127-1G>A
15g.34254591T>ACA391609916SLC12A6c.877-2A>T (n.877-2A>T)
n.1659-2A>T
c.724-2A>T (n.724-2A>T)
c.700-2A>T (n.700-2A>T)
c.832-2A>T (n.832-2A>T)
c.850-2A>T (n.850-2A>T)
c.313-2A>T (n.313-2A>T)
c.730-2A>T (n.730-2A>T)
n.883-2A>T
n.2127-2A>T
15g.34254591T>CCA391609910SLC12A6c.877-2A>G (n.877-2A>G)
n.1659-2A>G
c.724-2A>G (n.724-2A>G)
c.700-2A>G (n.700-2A>G)
c.832-2A>G (n.832-2A>G)
c.850-2A>G (n.850-2A>G)
c.313-2A>G (n.313-2A>G)
c.730-2A>G (n.730-2A>G)
n.883-2A>G
n.2127-2A>G
 ClinVar gnomAD v4
15g.34254591T>GCA391609913SLC12A6c.877-2A>C (n.877-2A>C)
n.1659-2A>C
c.724-2A>C (n.724-2A>C)
c.700-2A>C (n.700-2A>C)
c.832-2A>C (n.832-2A>C)
c.850-2A>C (n.850-2A>C)
c.313-2A>C (n.313-2A>C)
c.730-2A>C (n.730-2A>C)
n.883-2A>C
n.2127-2A>C
15g.34254592G>TCA2627631710SLC12A6c.877-3C>A (n.877-3C>A)
n.1659-3C>A
c.724-3C>A (n.724-3C>A)
c.700-3C>A (n.700-3C>A)
c.832-3C>A (n.832-3C>A)
c.850-3C>A (n.850-3C>A)
c.313-3C>A (n.313-3C>A)
c.730-3C>A (n.730-3C>A)
n.883-3C>A
n.2127-3C>A
 gnomAD v4
15g.34254593T>CCA2739279072SLC12A6c.877-4A>G (n.877-4A>G)
n.1659-4A>G
c.724-4A>G (n.724-4A>G)
c.700-4A>G (n.700-4A>G)
c.832-4A>G (n.832-4A>G)
c.850-4A>G (n.850-4A>G)
c.313-4A>G (n.313-4A>G)
c.730-4A>G (n.730-4A>G)
n.883-4A>G
n.2127-4A>G
 ClinVar
15g.34254594delCA2627631713SLC12A6c.877-4del (n.877-4del)
n.1659-4del
c.724-4del (n.724-4del)
c.700-4del (n.700-4del)
c.832-4del (n.832-4del)
c.850-4del (n.850-4del)
c.313-4del (n.313-4del)
c.730-4del (n.730-4del)
n.883-4del
n.2127-4del
 gnomAD v4
15g.34254594T>CCA7464451SLC12A6c.877-5A>G (n.877-5A>G)
n.1659-5A>G
c.724-5A>G (n.724-5A>G)
c.700-5A>G (n.700-5A>G)
c.832-5A>G (n.832-5A>G)
c.850-5A>G (n.850-5A>G)
c.313-5A>G (n.313-5A>G)
c.730-5A>G (n.730-5A>G)
n.883-5A>G
n.2127-5A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.34254596G>ACA2627631720SLC12A6c.877-7C>T (n.877-7C>T)
n.1659-7C>T
c.724-7C>T (n.724-7C>T)
c.700-7C>T (n.700-7C>T)
c.832-7C>T (n.832-7C>T)
c.850-7C>T (n.850-7C>T)
c.313-7C>T (n.313-7C>T)
c.730-7C>T (n.730-7C>T)
n.883-7C>T
n.2127-7C>T
 gnomAD v4
15g.34254596G>TCA7464452SLC12A6c.877-7C>A (n.877-7C>A)
n.1659-7C>A
c.724-7C>A (n.724-7C>A)
c.700-7C>A (n.700-7C>A)
c.832-7C>A (n.832-7C>A)
c.850-7C>A (n.850-7C>A)
c.313-7C>A (n.313-7C>A)
c.730-7C>A (n.730-7C>A)
n.883-7C>A
n.2127-7C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.34254597G>ACA7464453SLC12A6c.877-8C>T (n.877-8C>T)
n.1659-8C>T
c.724-8C>T (n.724-8C>T)
c.700-8C>T (n.700-8C>T)
c.832-8C>T (n.832-8C>T)
c.850-8C>T (n.850-8C>T)
c.313-8C>T (n.313-8C>T)
c.730-8C>T (n.730-8C>T)
n.883-8C>T
n.2127-8C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.34254597G>TCA2627631724SLC12A6c.877-8C>A (n.877-8C>A)
n.1659-8C>A
c.724-8C>A (n.724-8C>A)
c.700-8C>A (n.700-8C>A)
c.832-8C>A (n.832-8C>A)
c.850-8C>A (n.850-8C>A)
c.313-8C>A (n.313-8C>A)
c.730-8C>A (n.730-8C>A)
n.883-8C>A
n.2127-8C>A
 gnomAD v4
15g.34254598T>ACA2627631726SLC12A6c.877-9A>T (n.877-9A>T)
n.1659-9A>T
c.724-9A>T (n.724-9A>T)
c.700-9A>T (n.700-9A>T)
c.832-9A>T (n.832-9A>T)
c.850-9A>T (n.850-9A>T)
c.313-9A>T (n.313-9A>T)
c.730-9A>T (n.730-9A>T)
n.883-9A>T
n.2127-9A>T
 gnomAD v4
15g.34254598T>CCA2627631727SLC12A6c.877-9A>G (n.877-9A>G)
n.1659-9A>G
c.724-9A>G (n.724-9A>G)
c.700-9A>G (n.700-9A>G)
c.832-9A>G (n.832-9A>G)
c.850-9A>G (n.850-9A>G)
c.313-9A>G (n.313-9A>G)
c.730-9A>G (n.730-9A>G)
n.883-9A>G
n.2127-9A>G
 gnomAD v4
15g.34254598T>GCA968530789SLC12A6c.877-9A>C (n.877-9A>C)
n.1659-9A>C
c.724-9A>C (n.724-9A>C)
c.700-9A>C (n.700-9A>C)
c.832-9A>C (n.832-9A>C)
c.850-9A>C (n.850-9A>C)
c.313-9A>C (n.313-9A>C)
c.730-9A>C (n.730-9A>C)
n.883-9A>C
n.2127-9A>C
 dbSNP gnomAD v3 gnomAD v4
15g.34254603dupCA2573150650SLC12A6c.877-10dup (n.877-10dup)
n.1659-10dup
c.724-10dup (n.724-10dup)
c.700-10dup (n.700-10dup)
c.832-10dup (n.832-10dup)
c.850-10dup (n.850-10dup)
c.313-10dup (n.313-10dup)
c.730-10dup (n.730-10dup)
n.883-10dup
n.2127-10dup
 ClinVar dbSNP gnomAD v4
15g.34254603delCA2497387385SLC12A6c.877-10del (n.877-10del)
n.1659-10del
c.724-10del (n.724-10del)
c.700-10del (n.700-10del)
c.832-10del (n.832-10del)
c.850-10del (n.850-10del)
c.313-10del (n.313-10del)
c.730-10del (n.730-10del)
n.883-10del
n.2127-10del
 dbSNP gnomAD v4

Number of alleles fetched