Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.34254466dupCA2697554321SLC12A6c.1002dup (p.Ile335TyrfsTer?)
n.1784dup
c.849dup (p.Ile284TyrfsTer?)
c.825dup (p.Ile276TyrfsTer?)
c.957dup (p.Ile320TyrfsTer?)
c.975dup (p.Ile326TyrfsTer?)
c.438dup (p.Ile147TyrfsTer?)
c.855dup (p.Ile286TyrfsTer?)
n.1008dup
n.2252dup
ClinVar
15g.34254466delCA2575668746SLC12A6c.1002del (p.Phe334LeufsTer7)
n.1784del
c.849del (p.Phe283LeufsTer7)
c.825del (p.Phe275LeufsTer7)
c.957del (p.Phe319LeufsTer7)
c.975del (p.Phe325LeufsTer7)
c.438del (p.Phe146LeufsTer7)
c.855del (p.Phe285LeufsTer7)
n.1008del
n.2252del
15g.34254465A>CCA391609162SLC12A6c.1001T>G (p.Phe334Cys)
n.1783T>G
c.848T>G (p.Phe283Cys)
c.824T>G (p.Phe275Cys)
c.956T>G (p.Phe319Cys)
c.974T>G (p.Phe325Cys)
c.437T>G (p.Phe146Cys)
c.854T>G (p.Phe285Cys)
n.1007T>G
n.2251T>G
15g.34254465A>GCA391609164SLC12A6c.1001T>C (p.Phe334Ser)
n.1783T>C
c.848T>C (p.Phe283Ser)
c.824T>C (p.Phe275Ser)
c.956T>C (p.Phe319Ser)
c.974T>C (p.Phe325Ser)
c.437T>C (p.Phe146Ser)
c.854T>C (p.Phe285Ser)
n.1007T>C
n.2251T>C
gnomAD v4
15g.34254465A>TCA391609166SLC12A6c.1001T>A (p.Phe334Tyr)
n.1783T>A
c.848T>A (p.Phe283Tyr)
c.824T>A (p.Phe275Tyr)
c.956T>A (p.Phe319Tyr)
c.974T>A (p.Phe325Tyr)
c.437T>A (p.Phe146Tyr)
c.854T>A (p.Phe285Tyr)
n.1007T>A
n.2251T>A
15g.34254466A>CCA391609171SLC12A6c.1000T>G (p.Phe334Val)
n.1782T>G
c.847T>G (p.Phe283Val)
c.823T>G (p.Phe275Val)
c.955T>G (p.Phe319Val)
c.973T>G (p.Phe325Val)
c.436T>G (p.Phe146Val)
c.853T>G (p.Phe285Val)
n.1006T>G
n.2250T>G
gnomAD v4
15g.34254466A>GCA391609170SLC12A6c.1000T>C (p.Phe334Leu)
n.1782T>C
c.847T>C (p.Phe283Leu)
c.823T>C (p.Phe275Leu)
c.955T>C (p.Phe319Leu)
c.973T>C (p.Phe325Leu)
c.436T>C (p.Phe146Leu)
c.853T>C (p.Phe285Leu)
n.1006T>C
n.2250T>C
15g.34254466A>TCA391609169SLC12A6c.1000T>A (p.Phe334Ile)
n.1782T>A
c.847T>A (p.Phe283Ile)
c.823T>A (p.Phe275Ile)
c.955T>A (p.Phe319Ile)
c.973T>A (p.Phe325Ile)
c.436T>A (p.Phe146Ile)
c.853T>A (p.Phe285Ile)
n.1006T>A
n.2250T>A
15g.34254467T>ACA489652995SLC12A6c.999A>T (p.Val333=)
n.1781A>T
c.846A>T (p.Val282=)
c.822A>T (p.Val274=)
c.954A>T (p.Val318=)
c.972A>T (p.Val324=)
c.435A>T (p.Val145=)
c.852A>T (p.Val284=)
n.1005A>T
n.2249A>T
15g.34254467T>CCA489652997SLC12A6c.999A>G (p.Val333=)
n.1781A>G
c.846A>G (p.Val282=)
c.822A>G (p.Val274=)
c.954A>G (p.Val318=)
c.972A>G (p.Val324=)
c.435A>G (p.Val145=)
c.852A>G (p.Val284=)
n.1005A>G
n.2249A>G
dbSNP gnomAD v2 gnomAD v4
15g.34254467T>GCA489652996SLC12A6c.999A>C (p.Val333=)
n.1781A>C
c.846A>C (p.Val282=)
c.822A>C (p.Val274=)
c.954A>C (p.Val318=)
c.972A>C (p.Val324=)
c.435A>C (p.Val145=)
c.852A>C (p.Val284=)
n.1005A>C
n.2249A>C
15g.34254468A>CCA391609172SLC12A6c.998T>G (p.Val333Gly)
n.1780T>G
c.845T>G (p.Val282Gly)
c.821T>G (p.Val274Gly)
c.953T>G (p.Val318Gly)
c.971T>G (p.Val324Gly)
c.434T>G (p.Val145Gly)
c.851T>G (p.Val284Gly)
n.1004T>G
n.2248T>G
15g.34254468A>GCA391609173SLC12A6c.998T>C (p.Val333Ala)
n.1780T>C
c.845T>C (p.Val282Ala)
c.821T>C (p.Val274Ala)
c.953T>C (p.Val318Ala)
c.971T>C (p.Val324Ala)
c.434T>C (p.Val145Ala)
c.851T>C (p.Val284Ala)
n.1004T>C
n.2248T>C
15g.34254468A>TCA391609174SLC12A6c.998T>A (p.Val333Glu)
n.1780T>A
c.845T>A (p.Val282Glu)
c.821T>A (p.Val274Glu)
c.953T>A (p.Val318Glu)
c.971T>A (p.Val324Glu)
c.434T>A (p.Val145Glu)
c.851T>A (p.Val284Glu)
n.1004T>A
n.2248T>A
15g.34254469C>ACA391609177SLC12A6c.997G>T (p.Val333Leu)
n.1779G>T
c.844G>T (p.Val282Leu)
c.820G>T (p.Val274Leu)
c.952G>T (p.Val318Leu)
c.970G>T (p.Val324Leu)
c.433G>T (p.Val145Leu)
c.850G>T (p.Val284Leu)
n.1003G>T
n.2247G>T
15g.34254469C>GCA391609179SLC12A6c.997G>C (p.Val333Leu)
n.1779G>C
c.844G>C (p.Val282Leu)
c.820G>C (p.Val274Leu)
c.952G>C (p.Val318Leu)
c.970G>C (p.Val324Leu)
c.433G>C (p.Val145Leu)
c.850G>C (p.Val284Leu)
n.1003G>C
n.2247G>C
15g.34254469C>TCA391609180SLC12A6c.997G>A (p.Val333Ile)
n.1779G>A
c.844G>A (p.Val282Ile)
c.820G>A (p.Val274Ile)
c.952G>A (p.Val318Ile)
c.970G>A (p.Val324Ile)
c.433G>A (p.Val145Ile)
c.850G>A (p.Val284Ile)
n.1003G>A
n.2247G>A
15g.34254470C>ACA489653000SLC12A6c.996G>T (p.Val332=)
n.1778G>T
c.843G>T (p.Val281=)
c.819G>T (p.Val273=)
c.951G>T (p.Val317=)
c.969G>T (p.Val323=)
c.432G>T (p.Val144=)
c.849G>T (p.Val283=)
n.1002G>T
n.2246G>T
15g.34254470C>GCA489652998SLC12A6c.996G>C (p.Val332=)
n.1778G>C
c.843G>C (p.Val281=)
c.819G>C (p.Val273=)
c.951G>C (p.Val317=)
c.969G>C (p.Val323=)
c.432G>C (p.Val144=)
c.849G>C (p.Val283=)
n.1002G>C
n.2246G>C
15g.34254470C>TCA489652999SLC12A6c.996G>A (p.Val332=)
n.1778G>A
c.843G>A (p.Val281=)
c.819G>A (p.Val273=)
c.951G>A (p.Val317=)
c.969G>A (p.Val323=)
c.432G>A (p.Val144=)
c.849G>A (p.Val283=)
n.1002G>A
n.2246G>A
15g.34254471A>CCA391609181SLC12A6c.995T>G (p.Val332Gly)
n.1777T>G
c.842T>G (p.Val281Gly)
c.818T>G (p.Val273Gly)
c.950T>G (p.Val317Gly)
c.968T>G (p.Val323Gly)
c.431T>G (p.Val144Gly)
c.848T>G (p.Val283Gly)
n.1001T>G
n.2245T>G
15g.34254471A>GCA391609183SLC12A6c.995T>C (p.Val332Ala)
n.1777T>C
c.842T>C (p.Val281Ala)
c.818T>C (p.Val273Ala)
c.950T>C (p.Val317Ala)
c.968T>C (p.Val323Ala)
c.431T>C (p.Val144Ala)
c.848T>C (p.Val283Ala)
n.1001T>C
n.2245T>C
ClinVar dbSNP
15g.34254471A>TCA391609182SLC12A6c.995T>A (p.Val332Glu)
n.1777T>A
c.842T>A (p.Val281Glu)
c.818T>A (p.Val273Glu)
c.950T>A (p.Val317Glu)
c.968T>A (p.Val323Glu)
c.431T>A (p.Val144Glu)
c.848T>A (p.Val283Glu)
n.1001T>A
n.2245T>A
15g.34254472C>ACA391609185SLC12A6c.994G>T (p.Val332Leu)
n.1776G>T
c.841G>T (p.Val281Leu)
c.817G>T (p.Val273Leu)
c.949G>T (p.Val317Leu)
c.967G>T (p.Val323Leu)
c.430G>T (p.Val144Leu)
c.847G>T (p.Val283Leu)
n.1000G>T
n.2244G>T
15g.34254472C>GCA391609187SLC12A6c.994G>C (p.Val332Leu)
n.1776G>C
c.841G>C (p.Val281Leu)
c.817G>C (p.Val273Leu)
c.949G>C (p.Val317Leu)
c.967G>C (p.Val323Leu)
c.430G>C (p.Val144Leu)
c.847G>C (p.Val283Leu)
n.1000G>C
n.2244G>C
15g.34254472C>TCA391609189SLC12A6c.994G>A (p.Val332Met)
n.1776G>A
c.841G>A (p.Val281Met)
c.817G>A (p.Val273Met)
c.949G>A (p.Val317Met)
c.967G>A (p.Val323Met)
c.430G>A (p.Val144Met)
c.847G>A (p.Val283Met)
n.1000G>A
n.2244G>A
gnomAD v4
15g.34254473T>ACA391609191SLC12A6c.993A>T (p.Leu331Phe)
n.1775A>T
c.840A>T (p.Leu280Phe)
c.816A>T (p.Leu272Phe)
c.948A>T (p.Leu316Phe)
c.966A>T (p.Leu322Phe)
c.429A>T (p.Leu143Phe)
c.846A>T (p.Leu282Phe)
n.999A>T
n.2243A>T
15g.34254473T>CCA489653001SLC12A6c.993A>G (p.Leu331=)
n.1775A>G
c.840A>G (p.Leu280=)
c.816A>G (p.Leu272=)
c.948A>G (p.Leu316=)
c.966A>G (p.Leu322=)
c.429A>G (p.Leu143=)
c.846A>G (p.Leu282=)
n.999A>G
n.2243A>G
15g.34254473T>GCA391609192SLC12A6c.993A>C (p.Leu331Phe)
n.1775A>C
c.840A>C (p.Leu280Phe)
c.816A>C (p.Leu272Phe)
c.948A>C (p.Leu316Phe)
c.966A>C (p.Leu322Phe)
c.429A>C (p.Leu143Phe)
c.846A>C (p.Leu282Phe)
n.999A>C
n.2243A>C
15g.34254474A>CCA391609194SLC12A6c.992T>G (p.Leu331Ter)
n.1774T>G
c.839T>G (p.Leu280Ter)
c.815T>G (p.Leu272Ter)
c.947T>G (p.Leu316Ter)
c.965T>G (p.Leu322Ter)
c.428T>G (p.Leu143Ter)
c.845T>G (p.Leu282Ter)
n.998T>G
n.2242T>G
15g.34254474A>GCA391609196SLC12A6c.992T>C (p.Leu331Ser)
n.1774T>C
c.839T>C (p.Leu280Ser)
c.815T>C (p.Leu272Ser)
c.947T>C (p.Leu316Ser)
c.965T>C (p.Leu322Ser)
c.428T>C (p.Leu143Ser)
c.845T>C (p.Leu282Ser)
n.998T>C
n.2242T>C
15g.34254474A>TCA391609198SLC12A6c.992T>A (p.Leu331Ter)
n.1774T>A
c.839T>A (p.Leu280Ter)
c.815T>A (p.Leu272Ter)
c.947T>A (p.Leu316Ter)
c.965T>A (p.Leu322Ter)
c.428T>A (p.Leu143Ter)
c.845T>A (p.Leu282Ter)
n.998T>A
n.2242T>A
ClinVar
15g.34254475A>CCA391609200SLC12A6c.991T>G (p.Leu331Val)
n.1773T>G
c.838T>G (p.Leu280Val)
c.814T>G (p.Leu272Val)
c.946T>G (p.Leu316Val)
c.964T>G (p.Leu322Val)
c.427T>G (p.Leu143Val)
c.844T>G (p.Leu282Val)
n.997T>G
n.2241T>G
15g.34254475A>GCA489653002SLC12A6c.991T>C (p.Leu331=)
n.1773T>C
c.838T>C (p.Leu280=)
c.814T>C (p.Leu272=)
c.946T>C (p.Leu316=)
c.964T>C (p.Leu322=)
c.427T>C (p.Leu143=)
c.844T>C (p.Leu282=)
n.997T>C
n.2241T>C
15g.34254475A>TCA391609203SLC12A6c.991T>A (p.Leu331Ile)
n.1773T>A
c.838T>A (p.Leu280Ile)
c.814T>A (p.Leu272Ile)
c.946T>A (p.Leu316Ile)
c.964T>A (p.Leu322Ile)
c.427T>A (p.Leu143Ile)
c.844T>A (p.Leu282Ile)
n.997T>A
n.2241T>A
15g.34254476T>ACA489653003SLC12A6c.990A>T (p.Val330=)
n.1772A>T
c.837A>T (p.Val279=)
c.813A>T (p.Val271=)
c.945A>T (p.Val315=)
c.963A>T (p.Val321=)
c.426A>T (p.Val142=)
c.843A>T (p.Val281=)
n.996A>T
n.2240A>T
15g.34254476T>CCA7464424SLC12A6c.990A>G (p.Val330=)
n.1772A>G
c.837A>G (p.Val279=)
c.813A>G (p.Val271=)
c.945A>G (p.Val315=)
c.963A>G (p.Val321=)
c.426A>G (p.Val142=)
c.843A>G (p.Val281=)
n.996A>G
n.2240A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254476T>GCA489653004SLC12A6c.990A>C (p.Val330=)
n.1772A>C
c.837A>C (p.Val279=)
c.813A>C (p.Val271=)
c.945A>C (p.Val315=)
c.963A>C (p.Val321=)
c.426A>C (p.Val142=)
c.843A>C (p.Val281=)
n.996A>C
n.2240A>C
15g.34254477A>CCA391609208SLC12A6c.989T>G (p.Val330Gly)
n.1771T>G
c.836T>G (p.Val279Gly)
c.812T>G (p.Val271Gly)
c.944T>G (p.Val315Gly)
c.962T>G (p.Val321Gly)
c.425T>G (p.Val142Gly)
c.842T>G (p.Val281Gly)
n.995T>G
n.2239T>G
15g.34254477A>GCA391609210SLC12A6c.989T>C (p.Val330Ala)
n.1771T>C
c.836T>C (p.Val279Ala)
c.812T>C (p.Val271Ala)
c.944T>C (p.Val315Ala)
c.962T>C (p.Val321Ala)
c.425T>C (p.Val142Ala)
c.842T>C (p.Val281Ala)
n.995T>C
n.2239T>C
15g.34254477A>TCA391609206SLC12A6c.989T>A (p.Val330Glu)
n.1771T>A
c.836T>A (p.Val279Glu)
c.812T>A (p.Val271Glu)
c.944T>A (p.Val315Glu)
c.962T>A (p.Val321Glu)
c.425T>A (p.Val142Glu)
c.842T>A (p.Val281Glu)
n.995T>A
n.2239T>A
15g.34254478C>ACA391609213SLC12A6c.988G>T (p.Val330Leu)
n.1770G>T
c.835G>T (p.Val279Leu)
c.811G>T (p.Val271Leu)
c.943G>T (p.Val315Leu)
c.961G>T (p.Val321Leu)
c.424G>T (p.Val142Leu)
c.841G>T (p.Val281Leu)
n.994G>T
n.2238G>T
15g.34254478C>GCA391609217SLC12A6c.988G>C (p.Val330Leu)
n.1770G>C
c.835G>C (p.Val279Leu)
c.811G>C (p.Val271Leu)
c.943G>C (p.Val315Leu)
c.961G>C (p.Val321Leu)
c.424G>C (p.Val142Leu)
c.841G>C (p.Val281Leu)
n.994G>C
n.2238G>C
15g.34254478C>TCA391609215SLC12A6c.988G>A (p.Val330Ile)
n.1770G>A
c.835G>A (p.Val279Ile)
c.811G>A (p.Val271Ile)
c.943G>A (p.Val315Ile)
c.961G>A (p.Val321Ile)
c.424G>A (p.Val142Ile)
c.841G>A (p.Val281Ile)
n.994G>A
n.2238G>A
dbSNP gnomAD v2 gnomAD v4
15g.34254479C>ACA391609218SLC12A6c.987G>T (p.Met329Ile)
n.1769G>T
c.834G>T (p.Met278Ile)
c.810G>T (p.Met270Ile)
c.942G>T (p.Met314Ile)
c.960G>T (p.Met320Ile)
c.423G>T (p.Met141Ile)
c.840G>T (p.Met280Ile)
n.993G>T
n.2237G>T
15g.34254479C>GCA391609222SLC12A6c.987G>C (p.Met329Ile)
n.1769G>C
c.834G>C (p.Met278Ile)
c.810G>C (p.Met270Ile)
c.942G>C (p.Met314Ile)
c.960G>C (p.Met320Ile)
c.423G>C (p.Met141Ile)
c.840G>C (p.Met280Ile)
n.993G>C
n.2237G>C
15g.34254479C>TCA391609220SLC12A6c.987G>A (p.Met329Ile)
n.1769G>A
c.834G>A (p.Met278Ile)
c.810G>A (p.Met270Ile)
c.942G>A (p.Met314Ile)
c.960G>A (p.Met320Ile)
c.423G>A (p.Met141Ile)
c.840G>A (p.Met280Ile)
n.993G>A
n.2237G>A
ClinVar dbSNP gnomAD v2
15g.34254480A>CCA391609224SLC12A6c.986T>G (p.Met329Arg)
n.1768T>G
c.833T>G (p.Met278Arg)
c.809T>G (p.Met270Arg)
c.941T>G (p.Met314Arg)
c.959T>G (p.Met320Arg)
c.422T>G (p.Met141Arg)
c.839T>G (p.Met280Arg)
n.992T>G
n.2236T>G
gnomAD v4
15g.34254480A>GCA7464425SLC12A6c.986T>C (p.Met329Thr)
n.1768T>C
c.833T>C (p.Met278Thr)
c.809T>C (p.Met270Thr)
c.941T>C (p.Met314Thr)
c.959T>C (p.Met320Thr)
c.422T>C (p.Met141Thr)
c.839T>C (p.Met280Thr)
n.992T>C
n.2236T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254480A>TCA391609227SLC12A6c.986T>A (p.Met329Lys)
n.1768T>A
c.833T>A (p.Met278Lys)
c.809T>A (p.Met270Lys)
c.941T>A (p.Met314Lys)
c.959T>A (p.Met320Lys)
c.422T>A (p.Met141Lys)
c.839T>A (p.Met280Lys)
n.992T>A
n.2236T>A
15g.34254481T>ACA391609229SLC12A6c.985A>T (p.Met329Leu)
n.1767A>T
c.832A>T (p.Met278Leu)
c.808A>T (p.Met270Leu)
c.940A>T (p.Met314Leu)
c.958A>T (p.Met320Leu)
c.421A>T (p.Met141Leu)
c.838A>T (p.Met280Leu)
n.991A>T
n.2235A>T
15g.34254481T>CCA391609232SLC12A6c.985A>G (p.Met329Val)
n.1767A>G
c.832A>G (p.Met278Val)
c.808A>G (p.Met270Val)
c.940A>G (p.Met314Val)
c.958A>G (p.Met320Val)
c.421A>G (p.Met141Val)
c.838A>G (p.Met280Val)
n.991A>G
n.2235A>G
ClinVar
15g.34254481T>GCA391609233SLC12A6c.985A>C (p.Met329Leu)
n.1767A>C
c.832A>C (p.Met278Leu)
c.808A>C (p.Met270Leu)
c.940A>C (p.Met314Leu)
c.958A>C (p.Met320Leu)
c.421A>C (p.Met141Leu)
c.838A>C (p.Met280Leu)
n.991A>C
n.2235A>C
15g.34254481_34254485delCA2580089307SLC12A6c.981_985del (p.Leu328GlyfsTer?)
n.1763_1767del
c.828_832del (p.Leu277GlyfsTer?)
c.804_808del (p.Leu269GlyfsTer?)
c.936_940del (p.Leu313GlyfsTer?)
c.954_958del (p.Leu319GlyfsTer?)
c.417_421del (p.Leu140GlyfsTer?)
c.834_838del (p.Leu279GlyfsTer?)
n.987_991del
n.2231_2235del
ClinVar
15g.34254482A>CCA489653007SLC12A6c.984T>G (p.Leu328=)
n.1766T>G
c.831T>G (p.Leu277=)
c.807T>G (p.Leu269=)
c.939T>G (p.Leu313=)
c.957T>G (p.Leu319=)
c.420T>G (p.Leu140=)
c.837T>G (p.Leu279=)
n.990T>G
n.2234T>G
15g.34254482A>GCA489653006SLC12A6c.984T>C (p.Leu328=)
n.1766T>C
c.831T>C (p.Leu277=)
c.807T>C (p.Leu269=)
c.939T>C (p.Leu313=)
c.957T>C (p.Leu319=)
c.420T>C (p.Leu140=)
c.837T>C (p.Leu279=)
n.990T>C
n.2234T>C
ClinVar dbSNP
15g.34254482A>TCA489653005SLC12A6c.984T>A (p.Leu328=)
n.1766T>A
c.831T>A (p.Leu277=)
c.807T>A (p.Leu269=)
c.939T>A (p.Leu313=)
c.957T>A (p.Leu319=)
c.420T>A (p.Leu140=)
c.837T>A (p.Leu279=)
n.990T>A
n.2234T>A
15g.34254483delCA2580089309SLC12A6c.984del (p.Met329TrpfsTer3)
n.1766del
c.831del (p.Met278TrpfsTer3)
c.807del (p.Met270TrpfsTer3)
c.939del (p.Met314TrpfsTer3)
c.957del (p.Met320TrpfsTer3)
c.420del (p.Met141TrpfsTer3)
c.837del (p.Met280TrpfsTer3)
n.990del
n.2234del
ClinVar
15g.34254483A>CCA391609234SLC12A6c.983T>G (p.Leu328Arg)
n.1765T>G
c.830T>G (p.Leu277Arg)
c.806T>G (p.Leu269Arg)
c.938T>G (p.Leu313Arg)
c.956T>G (p.Leu319Arg)
c.419T>G (p.Leu140Arg)
c.836T>G (p.Leu279Arg)
n.989T>G
n.2233T>G
gnomAD v4
15g.34254483A>GCA391609235SLC12A6c.983T>C (p.Leu328Pro)
n.1765T>C
c.830T>C (p.Leu277Pro)
c.806T>C (p.Leu269Pro)
c.938T>C (p.Leu313Pro)
c.956T>C (p.Leu319Pro)
c.419T>C (p.Leu140Pro)
c.836T>C (p.Leu279Pro)
n.989T>C
n.2233T>C
15g.34254483A>TCA391609236SLC12A6c.983T>A (p.Leu328His)
n.1765T>A
c.830T>A (p.Leu277His)
c.806T>A (p.Leu269His)
c.938T>A (p.Leu313His)
c.956T>A (p.Leu319His)
c.419T>A (p.Leu140His)
c.836T>A (p.Leu279His)
n.989T>A
n.2233T>A
15g.34254484G>ACA7464426SLC12A6c.982C>T (p.Leu328Phe)
n.1764C>T
c.829C>T (p.Leu277Phe)
c.805C>T (p.Leu269Phe)
c.937C>T (p.Leu313Phe)
c.955C>T (p.Leu319Phe)
c.418C>T (p.Leu140Phe)
c.835C>T (p.Leu279Phe)
n.988C>T
n.2232C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254484G>CCA391609237SLC12A6c.982C>G (p.Leu328Val)
n.1764C>G
c.829C>G (p.Leu277Val)
c.805C>G (p.Leu269Val)
c.937C>G (p.Leu313Val)
c.955C>G (p.Leu319Val)
c.418C>G (p.Leu140Val)
c.835C>G (p.Leu279Val)
n.988C>G
n.2232C>G
15g.34254484G>TCA391609239SLC12A6c.982C>A (p.Leu328Ile)
n.1764C>A
c.829C>A (p.Leu277Ile)
c.805C>A (p.Leu269Ile)
c.937C>A (p.Leu313Ile)
c.955C>A (p.Leu319Ile)
c.418C>A (p.Leu140Ile)
c.835C>A (p.Leu279Ile)
n.988C>A
n.2232C>A
gnomAD v4
15g.34254485G>ACA7464427SLC12A6c.981C>T (p.Val327=)
n.1763C>T
c.828C>T (p.Val276=)
c.804C>T (p.Val268=)
c.936C>T (p.Val312=)
c.954C>T (p.Val318=)
c.417C>T (p.Val139=)
c.834C>T (p.Val278=)
n.987C>T
n.2231C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254485G>CCA489653008SLC12A6c.981C>G (p.Val327=)
n.1763C>G
c.828C>G (p.Val276=)
c.804C>G (p.Val268=)
c.936C>G (p.Val312=)
c.954C>G (p.Val318=)
c.417C>G (p.Val139=)
c.834C>G (p.Val278=)
n.987C>G
n.2231C>G
15g.34254485G>TCA489653009SLC12A6c.981C>A (p.Val327=)
n.1763C>A
c.828C>A (p.Val276=)
c.804C>A (p.Val268=)
c.936C>A (p.Val312=)
c.954C>A (p.Val318=)
c.417C>A (p.Val139=)
c.834C>A (p.Val278=)
n.987C>A
n.2231C>A
15g.34254486A>CCA391609243SLC12A6c.980T>G (p.Val327Gly)
n.1762T>G
c.827T>G (p.Val276Gly)
c.803T>G (p.Val268Gly)
c.935T>G (p.Val312Gly)
c.953T>G (p.Val318Gly)
c.416T>G (p.Val139Gly)
c.833T>G (p.Val278Gly)
n.986T>G
n.2230T>G
15g.34254486A>GCA391609245SLC12A6c.980T>C (p.Val327Ala)
n.1762T>C
c.827T>C (p.Val276Ala)
c.803T>C (p.Val268Ala)
c.935T>C (p.Val312Ala)
c.953T>C (p.Val318Ala)
c.416T>C (p.Val139Ala)
c.833T>C (p.Val278Ala)
n.986T>C
n.2230T>C
gnomAD v4
15g.34254486A>TCA391609247SLC12A6c.980T>A (p.Val327Asp)
n.1762T>A
c.827T>A (p.Val276Asp)
c.803T>A (p.Val268Asp)
c.935T>A (p.Val312Asp)
c.953T>A (p.Val318Asp)
c.416T>A (p.Val139Asp)
c.833T>A (p.Val278Asp)
n.986T>A
n.2230T>A
COSMIC COSMIC COSMIC
15g.34254487C>ACA391609250SLC12A6c.979G>T (p.Val327Phe)
n.1761G>T
c.826G>T (p.Val276Phe)
c.802G>T (p.Val268Phe)
c.934G>T (p.Val312Phe)
c.952G>T (p.Val318Phe)
c.415G>T (p.Val139Phe)
c.832G>T (p.Val278Phe)
n.985G>T
n.2229G>T
15g.34254487C>GCA391609251SLC12A6c.979G>C (p.Val327Leu)
n.1761G>C
c.826G>C (p.Val276Leu)
c.802G>C (p.Val268Leu)
c.934G>C (p.Val312Leu)
c.952G>C (p.Val318Leu)
c.415G>C (p.Val139Leu)
c.832G>C (p.Val278Leu)
n.985G>C
n.2229G>C
15g.34254487C>TCA7464428SLC12A6c.979G>A (p.Val327Ile)
n.1761G>A
c.826G>A (p.Val276Ile)
c.802G>A (p.Val268Ile)
c.934G>A (p.Val312Ile)
c.952G>A (p.Val318Ile)
c.415G>A (p.Val139Ile)
c.832G>A (p.Val278Ile)
n.985G>A
n.2229G>A
dbSNP ExAC gnomAD v2 gnomAD v4
15g.34254488C>ACA7464429SLC12A6c.978G>T (p.Leu326Phe)
n.1760G>T
c.825G>T (p.Leu275Phe)
c.801G>T (p.Leu267Phe)
c.933G>T (p.Leu311Phe)
c.951G>T (p.Leu317Phe)
c.414G>T (p.Leu138Phe)
c.831G>T (p.Leu277Phe)
n.984G>T
n.2228G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254488C>GCA391609255SLC12A6c.978G>C (p.Leu326Phe)
n.1760G>C
c.825G>C (p.Leu275Phe)
c.801G>C (p.Leu267Phe)
c.933G>C (p.Leu311Phe)
c.951G>C (p.Leu317Phe)
c.414G>C (p.Leu138Phe)
c.831G>C (p.Leu277Phe)
n.984G>C
n.2228G>C
15g.34254488C>TCA489653010SLC12A6c.978G>A (p.Leu326=)
n.1760G>A
c.825G>A (p.Leu275=)
c.801G>A (p.Leu267=)
c.933G>A (p.Leu311=)
c.951G>A (p.Leu317=)
c.414G>A (p.Leu138=)
c.831G>A (p.Leu277=)
n.984G>A
n.2228G>A
15g.34254489A>CCA391609257SLC12A6c.977T>G (p.Leu326Trp)
n.1759T>G
c.824T>G (p.Leu275Trp)
c.800T>G (p.Leu267Trp)
c.932T>G (p.Leu311Trp)
c.950T>G (p.Leu317Trp)
c.413T>G (p.Leu138Trp)
c.830T>G (p.Leu277Trp)
n.983T>G
n.2227T>G
15g.34254489A>GCA391609258SLC12A6c.977T>C (p.Leu326Ser)
n.1759T>C
c.824T>C (p.Leu275Ser)
c.800T>C (p.Leu267Ser)
c.932T>C (p.Leu311Ser)
c.950T>C (p.Leu317Ser)
c.413T>C (p.Leu138Ser)
c.830T>C (p.Leu277Ser)
n.983T>C
n.2227T>C
15g.34254489A>TCA391609260SLC12A6c.977T>A (p.Leu326Ter)
n.1759T>A
c.824T>A (p.Leu275Ter)
c.800T>A (p.Leu267Ter)
c.932T>A (p.Leu311Ter)
c.950T>A (p.Leu317Ter)
c.413T>A (p.Leu138Ter)
c.830T>A (p.Leu277Ter)
n.983T>A
n.2227T>A
15g.34254490A>CCA391609264SLC12A6c.976T>G (p.Leu326Val)
n.1758T>G
c.823T>G (p.Leu275Val)
c.799T>G (p.Leu267Val)
c.931T>G (p.Leu311Val)
c.949T>G (p.Leu317Val)
c.412T>G (p.Leu138Val)
c.829T>G (p.Leu277Val)
n.982T>G
n.2226T>G
15g.34254490A>GCA489653011SLC12A6c.976T>C (p.Leu326=)
n.1758T>C
c.823T>C (p.Leu275=)
c.799T>C (p.Leu267=)
c.931T>C (p.Leu311=)
c.949T>C (p.Leu317=)
c.412T>C (p.Leu138=)
c.829T>C (p.Leu277=)
n.982T>C
n.2226T>C
dbSNP gnomAD v2 gnomAD v4
15g.34254490A>TCA391609262SLC12A6c.976T>A (p.Leu326Met)
n.1758T>A
c.823T>A (p.Leu275Met)
c.799T>A (p.Leu267Met)
c.931T>A (p.Leu311Met)
c.949T>A (p.Leu317Met)
c.412T>A (p.Leu138Met)
c.829T>A (p.Leu277Met)
n.982T>A
n.2226T>A
15g.34254491G>ACA489653012SLC12A6c.975C>T (p.Phe325=)
n.1757C>T
c.822C>T (p.Phe274=)
c.798C>T (p.Phe266=)
c.930C>T (p.Phe310=)
c.948C>T (p.Phe316=)
c.411C>T (p.Phe137=)
c.828C>T (p.Phe276=)
n.981C>T
n.2225C>T
dbSNP gnomAD v3 gnomAD v4
15g.34254491G>CCA391609267SLC12A6c.975C>G (p.Phe325Leu)
n.1757C>G
c.822C>G (p.Phe274Leu)
c.798C>G (p.Phe266Leu)
c.930C>G (p.Phe310Leu)
c.948C>G (p.Phe316Leu)
c.411C>G (p.Phe137Leu)
c.828C>G (p.Phe276Leu)
n.981C>G
n.2225C>G
gnomAD v4
15g.34254491G>TCA391609270SLC12A6c.975C>A (p.Phe325Leu)
n.1757C>A
c.822C>A (p.Phe274Leu)
c.798C>A (p.Phe266Leu)
c.930C>A (p.Phe310Leu)
c.948C>A (p.Phe316Leu)
c.411C>A (p.Phe137Leu)
c.828C>A (p.Phe276Leu)
n.981C>A
n.2225C>A
15g.34254492A>CCA391609272SLC12A6c.974T>G (p.Phe325Cys)
n.1756T>G
c.821T>G (p.Phe274Cys)
c.797T>G (p.Phe266Cys)
c.929T>G (p.Phe310Cys)
c.947T>G (p.Phe316Cys)
c.410T>G (p.Phe137Cys)
c.827T>G (p.Phe276Cys)
n.980T>G
n.2224T>G
COSMIC COSMIC
15g.34254492A>GCA391609274SLC12A6c.974T>C (p.Phe325Ser)
n.1756T>C
c.821T>C (p.Phe274Ser)
c.797T>C (p.Phe266Ser)
c.929T>C (p.Phe310Ser)
c.947T>C (p.Phe316Ser)
c.410T>C (p.Phe137Ser)
c.827T>C (p.Phe276Ser)
n.980T>C
n.2224T>C
15g.34254492A>TCA391609276SLC12A6c.974T>A (p.Phe325Tyr)
n.1756T>A
c.821T>A (p.Phe274Tyr)
c.797T>A (p.Phe266Tyr)
c.929T>A (p.Phe310Tyr)
c.947T>A (p.Phe316Tyr)
c.410T>A (p.Phe137Tyr)
c.827T>A (p.Phe276Tyr)
n.980T>A
n.2224T>A
15g.34254493A>CCA391609277SLC12A6c.973T>G (p.Phe325Val)
n.1755T>G
c.820T>G (p.Phe274Val)
c.796T>G (p.Phe266Val)
c.928T>G (p.Phe310Val)
c.946T>G (p.Phe316Val)
c.409T>G (p.Phe137Val)
c.826T>G (p.Phe276Val)
n.979T>G
n.2223T>G
15g.34254493A>GCA391609279SLC12A6c.973T>C (p.Phe325Leu)
n.1755T>C
c.820T>C (p.Phe274Leu)
c.796T>C (p.Phe266Leu)
c.928T>C (p.Phe310Leu)
c.946T>C (p.Phe316Leu)
c.409T>C (p.Phe137Leu)
c.826T>C (p.Phe276Leu)
n.979T>C
n.2223T>C
15g.34254493A>TCA391609281SLC12A6c.973T>A (p.Phe325Ile)
n.1755T>A
c.820T>A (p.Phe274Ile)
c.796T>A (p.Phe266Ile)
c.928T>A (p.Phe310Ile)
c.946T>A (p.Phe316Ile)
c.409T>A (p.Phe137Ile)
c.826T>A (p.Phe276Ile)
n.979T>A
n.2223T>A
15g.34254494A>CCA489653014SLC12A6c.972T>G (p.Ala324=)
n.1754T>G
c.819T>G (p.Ala273=)
c.795T>G (p.Ala265=)
c.927T>G (p.Ala309=)
c.945T>G (p.Ala315=)
c.408T>G (p.Ala136=)
c.825T>G (p.Ala275=)
n.978T>G
n.2222T>G
15g.34254494A>GCA489653015SLC12A6c.972T>C (p.Ala324=)
n.1754T>C
c.819T>C (p.Ala273=)
c.795T>C (p.Ala265=)
c.927T>C (p.Ala309=)
c.945T>C (p.Ala315=)
c.408T>C (p.Ala136=)
c.825T>C (p.Ala275=)
n.978T>C
n.2222T>C
dbSNP
15g.34254494A>TCA489653013SLC12A6c.972T>A (p.Ala324=)
n.1754T>A
c.819T>A (p.Ala273=)
c.795T>A (p.Ala265=)
c.927T>A (p.Ala309=)
c.945T>A (p.Ala315=)
c.408T>A (p.Ala136=)
c.825T>A (p.Ala275=)
n.978T>A
n.2222T>A
15g.34254494_34254495insACCAAACACACCCAACACACA2803706670SLC12A6c.972_973insGTGTTGGGTGTGTTTGGTT (p.Phe325ValfsTer?)
n.1754_1755insGTGTTGGGTGTGTTTGGTT
c.819_820insGTGTTGGGTGTGTTTGGTT (p.Phe274ValfsTer?)
c.795_796insGTGTTGGGTGTGTTTGGTT (p.Phe266ValfsTer?)
c.927_928insGTGTTGGGTGTGTTTGGTT (p.Phe310ValfsTer?)
c.945_946insGTGTTGGGTGTGTTTGGTT (p.Phe316ValfsTer?)
c.408_409insGTGTTGGGTGTGTTTGGTT (p.Phe137ValfsTer?)
c.825_826insGTGTTGGGTGTGTTTGGTT (p.Phe276ValfsTer?)
n.978_979insGTGTTGGGTGTGTTTGGTT
n.2222_2223insGTGTTGGGTGTGTTTGGTT
15g.34254495G>ACA391609284SLC12A6c.971C>T (p.Ala324Val)
n.1753C>T
c.818C>T (p.Ala273Val)
c.794C>T (p.Ala265Val)
c.926C>T (p.Ala309Val)
c.944C>T (p.Ala315Val)
c.407C>T (p.Ala136Val)
c.824C>T (p.Ala275Val)
n.977C>T
n.2221C>T
dbSNP gnomAD v4
15g.34254495G>CCA391609286SLC12A6c.971C>G (p.Ala324Gly)
n.1753C>G
c.818C>G (p.Ala273Gly)
c.794C>G (p.Ala265Gly)
c.926C>G (p.Ala309Gly)
c.944C>G (p.Ala315Gly)
c.407C>G (p.Ala136Gly)
c.824C>G (p.Ala275Gly)
n.977C>G
n.2221C>G
15g.34254495G>TCA391609288SLC12A6c.971C>A (p.Ala324Asp)
n.1753C>A
c.818C>A (p.Ala273Asp)
c.794C>A (p.Ala265Asp)
c.926C>A (p.Ala309Asp)
c.944C>A (p.Ala315Asp)
c.407C>A (p.Ala136Asp)
c.824C>A (p.Ala275Asp)
n.977C>A
n.2221C>A
15g.34254496C>ACA391609295SLC12A6c.970G>T (p.Ala324Ser)
n.1752G>T
c.817G>T (p.Ala273Ser)
c.793G>T (p.Ala265Ser)
c.925G>T (p.Ala309Ser)
c.943G>T (p.Ala315Ser)
c.406G>T (p.Ala136Ser)
c.823G>T (p.Ala275Ser)
n.976G>T
n.2220G>T
gnomAD v4
15g.34254496C>GCA391609293SLC12A6c.970G>C (p.Ala324Pro)
n.1752G>C
c.817G>C (p.Ala273Pro)
c.793G>C (p.Ala265Pro)
c.925G>C (p.Ala309Pro)
c.943G>C (p.Ala315Pro)
c.406G>C (p.Ala136Pro)
c.823G>C (p.Ala275Pro)
n.976G>C
n.2220G>C
gnomAD v4
15g.34254496C>TCA391609291SLC12A6c.970G>A (p.Ala324Thr)
n.1752G>A
c.817G>A (p.Ala273Thr)
c.793G>A (p.Ala265Thr)
c.925G>A (p.Ala309Thr)
c.943G>A (p.Ala315Thr)
c.406G>A (p.Ala136Thr)
c.823G>A (p.Ala275Thr)
n.976G>A
n.2220G>A
COSMIC COSMIC COSMIC
15g.34254497T>ACA489653016SLC12A6c.969A>T (p.Thr323=)
n.1751A>T
c.816A>T (p.Thr272=)
c.792A>T (p.Thr264=)
c.924A>T (p.Thr308=)
c.942A>T (p.Thr314=)
c.405A>T (p.Thr135=)
c.822A>T (p.Thr274=)
n.975A>T
n.2219A>T
15g.34254497T>CCA489653017SLC12A6c.969A>G (p.Thr323=)
n.1751A>G
c.816A>G (p.Thr272=)
c.792A>G (p.Thr264=)
c.924A>G (p.Thr308=)
c.942A>G (p.Thr314=)
c.405A>G (p.Thr135=)
c.822A>G (p.Thr274=)
n.975A>G
n.2219A>G
gnomAD v4
15g.34254497T>GCA489653018SLC12A6c.969A>C (p.Thr323=)
n.1751A>C
c.816A>C (p.Thr272=)
c.792A>C (p.Thr264=)
c.924A>C (p.Thr308=)
c.942A>C (p.Thr314=)
c.405A>C (p.Thr135=)
c.822A>C (p.Thr274=)
n.975A>C
n.2219A>C
15g.34254498G>ACA391609298SLC12A6c.968C>T (p.Thr323Ile)
n.1750C>T
c.815C>T (p.Thr272Ile)
c.791C>T (p.Thr264Ile)
c.923C>T (p.Thr308Ile)
c.941C>T (p.Thr314Ile)
c.404C>T (p.Thr135Ile)
c.821C>T (p.Thr274Ile)
n.974C>T
n.2218C>T
15g.34254498G>CCA391609300SLC12A6c.968C>G (p.Thr323Arg)
n.1750C>G
c.815C>G (p.Thr272Arg)
c.791C>G (p.Thr264Arg)
c.923C>G (p.Thr308Arg)
c.941C>G (p.Thr314Arg)
c.404C>G (p.Thr135Arg)
c.821C>G (p.Thr274Arg)
n.974C>G
n.2218C>G
ClinVar dbSNP
15g.34254498G>TCA391609301SLC12A6c.968C>A (p.Thr323Lys)
n.1750C>A
c.815C>A (p.Thr272Lys)
c.791C>A (p.Thr264Lys)
c.923C>A (p.Thr308Lys)
c.941C>A (p.Thr314Lys)
c.404C>A (p.Thr135Lys)
c.821C>A (p.Thr274Lys)
n.974C>A
n.2218C>A
15g.34254499T>ACA391609305SLC12A6c.967A>T (p.Thr323Ser)
n.1749A>T
c.814A>T (p.Thr272Ser)
c.790A>T (p.Thr264Ser)
c.922A>T (p.Thr308Ser)
c.940A>T (p.Thr314Ser)
c.403A>T (p.Thr135Ser)
c.820A>T (p.Thr274Ser)
n.973A>T
n.2217A>T
gnomAD v4
15g.34254499T>CCA7464430SLC12A6c.967A>G (p.Thr323Ala)
n.1749A>G
c.814A>G (p.Thr272Ala)
c.790A>G (p.Thr264Ala)
c.922A>G (p.Thr308Ala)
c.940A>G (p.Thr314Ala)
c.403A>G (p.Thr135Ala)
c.820A>G (p.Thr274Ala)
n.973A>G
n.2217A>G
dbSNP ExAC gnomAD v2 gnomAD v4
15g.34254499T>GCA391609310SLC12A6c.967A>C (p.Thr323Pro)
n.1749A>C
c.814A>C (p.Thr272Pro)
c.790A>C (p.Thr264Pro)
c.922A>C (p.Thr308Pro)
c.940A>C (p.Thr314Pro)
c.403A>C (p.Thr135Pro)
c.820A>C (p.Thr274Pro)
n.973A>C
n.2217A>C
15g.34254500G>ACA7464431SLC12A6c.966C>T (p.Gly322=)
n.1748C>T
c.813C>T (p.Gly271=)
c.789C>T (p.Gly263=)
c.921C>T (p.Gly307=)
c.939C>T (p.Gly313=)
c.402C>T (p.Gly134=)
c.819C>T (p.Gly273=)
n.972C>T
n.2216C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34254500G>CCA489653019SLC12A6c.966C>G (p.Gly322=)
n.1748C>G
c.813C>G (p.Gly271=)
c.789C>G (p.Gly263=)
c.921C>G (p.Gly307=)
c.939C>G (p.Gly313=)
c.402C>G (p.Gly134=)
c.819C>G (p.Gly273=)
n.972C>G
n.2216C>G
15g.34254500G>TCA489653020SLC12A6c.966C>A (p.Gly322=)
n.1748C>A
c.813C>A (p.Gly271=)
c.789C>A (p.Gly263=)
c.921C>A (p.Gly307=)
c.939C>A (p.Gly313=)
c.402C>A (p.Gly134=)
c.819C>A (p.Gly273=)
n.972C>A
n.2216C>A
15g.34254501C>ACA391609312SLC12A6c.965G>T (p.Gly322Val)
n.1747G>T
c.812G>T (p.Gly271Val)
c.788G>T (p.Gly263Val)
c.920G>T (p.Gly307Val)
c.938G>T (p.Gly313Val)
c.401G>T (p.Gly134Val)
c.818G>T (p.Gly273Val)
n.971G>T
n.2215G>T
15g.34254501C>GCA391609313SLC12A6c.965G>C (p.Gly322Ala)
n.1747G>C
c.812G>C (p.Gly271Ala)
c.788G>C (p.Gly263Ala)
c.920G>C (p.Gly307Ala)
c.938G>C (p.Gly313Ala)
c.401G>C (p.Gly134Ala)
c.818G>C (p.Gly273Ala)
n.971G>C
n.2215G>C
dbSNP gnomAD v3 gnomAD v4
15g.34254501C>TCA391609314SLC12A6c.965G>A (p.Gly322Asp)
n.1747G>A
c.812G>A (p.Gly271Asp)
c.788G>A (p.Gly263Asp)
c.920G>A (p.Gly307Asp)
c.938G>A (p.Gly313Asp)
c.401G>A (p.Gly134Asp)
c.818G>A (p.Gly273Asp)
n.971G>A
n.2215G>A
dbSNP
15g.34254502C>ACA391609316SLC12A6c.964G>T (p.Gly322Cys)
n.1746G>T
c.811G>T (p.Gly271Cys)
c.787G>T (p.Gly263Cys)
c.919G>T (p.Gly307Cys)
c.937G>T (p.Gly313Cys)
c.400G>T (p.Gly134Cys)
c.817G>T (p.Gly273Cys)
n.970G>T
n.2214G>T
15g.34254502C>GCA391609319SLC12A6c.964G>C (p.Gly322Arg)
n.1746G>C
c.811G>C (p.Gly271Arg)
c.787G>C (p.Gly263Arg)
c.919G>C (p.Gly307Arg)
c.937G>C (p.Gly313Arg)
c.400G>C (p.Gly134Arg)
c.817G>C (p.Gly273Arg)
n.970G>C
n.2214G>C
15g.34254502C>TCA7464432SLC12A6c.964G>A (p.Gly322Ser)
n.1746G>A
c.811G>A (p.Gly271Ser)
c.787G>A (p.Gly263Ser)
c.919G>A (p.Gly307Ser)
c.937G>A (p.Gly313Ser)
c.400G>A (p.Gly134Ser)
c.817G>A (p.Gly273Ser)
n.970G>A
n.2214G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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

Number of alleles fetched