Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.34254466dup | CA2697554321 | SLC12A6 | c.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 |
15 | g.34254466del | CA2575668746 | SLC12A6 | c.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 | |
15 | g.34254465A>C | CA391609162 | SLC12A6 | c.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 | |
15 | g.34254465A>G | CA391609164 | SLC12A6 | c.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 |
15 | g.34254465A>T | CA391609166 | SLC12A6 | c.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 | |
15 | g.34254466A>C | CA391609171 | SLC12A6 | c.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 |
15 | g.34254466A>G | CA391609170 | SLC12A6 | c.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 | |
15 | g.34254466A>T | CA391609169 | SLC12A6 | c.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 | |
15 | g.34254467T>A | CA489652995 | SLC12A6 | c.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 | |
15 | g.34254467T>C | CA489652997 | SLC12A6 | c.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 |
15 | g.34254467T>G | CA489652996 | SLC12A6 | c.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 | |
15 | g.34254468A>C | CA391609172 | SLC12A6 | c.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 | |
15 | g.34254468A>G | CA391609173 | SLC12A6 | c.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 | |
15 | g.34254468A>T | CA391609174 | SLC12A6 | c.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 | |
15 | g.34254469C>A | CA391609177 | SLC12A6 | c.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 | |
15 | g.34254469C>G | CA391609179 | SLC12A6 | c.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 | |
15 | g.34254469C>T | CA391609180 | SLC12A6 | c.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 | |
15 | g.34254470C>A | CA489653000 | SLC12A6 | c.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 | |
15 | g.34254470C>G | CA489652998 | SLC12A6 | c.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 | |
15 | g.34254470C>T | CA489652999 | SLC12A6 | c.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 | |
15 | g.34254471A>C | CA391609181 | SLC12A6 | c.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 | |
15 | g.34254471A>G | CA391609183 | SLC12A6 | c.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 |
15 | g.34254471A>T | CA391609182 | SLC12A6 | c.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 | |
15 | g.34254472C>A | CA391609185 | SLC12A6 | c.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 | |
15 | g.34254472C>G | CA391609187 | SLC12A6 | c.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 | |
15 | g.34254472C>T | CA391609189 | SLC12A6 | c.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 |
15 | g.34254473T>A | CA391609191 | SLC12A6 | c.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 | |
15 | g.34254473T>C | CA489653001 | SLC12A6 | c.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 | |
15 | g.34254473T>G | CA391609192 | SLC12A6 | c.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 | |
15 | g.34254474A>C | CA391609194 | SLC12A6 | c.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 | |
15 | g.34254474A>G | CA391609196 | SLC12A6 | c.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 | |
15 | g.34254474A>T | CA391609198 | SLC12A6 | c.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 |
15 | g.34254475A>C | CA391609200 | SLC12A6 | c.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 | |
15 | g.34254475A>G | CA489653002 | SLC12A6 | c.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 | |
15 | g.34254475A>T | CA391609203 | SLC12A6 | c.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 | |
15 | g.34254476T>A | CA489653003 | SLC12A6 | c.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 | |
15 | g.34254476T>C | CA7464424 | SLC12A6 | c.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 |
15 | g.34254476T>G | CA489653004 | SLC12A6 | c.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 | |
15 | g.34254477A>C | CA391609208 | SLC12A6 | c.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 | |
15 | g.34254477A>G | CA391609210 | SLC12A6 | c.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 | |
15 | g.34254477A>T | CA391609206 | SLC12A6 | c.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 | |
15 | g.34254478C>A | CA391609213 | SLC12A6 | c.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 | |
15 | g.34254478C>G | CA391609217 | SLC12A6 | c.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 | |
15 | g.34254478C>T | CA391609215 | SLC12A6 | c.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 |
15 | g.34254479C>A | CA391609218 | SLC12A6 | c.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 | |
15 | g.34254479C>G | CA391609222 | SLC12A6 | c.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 | |
15 | g.34254479C>T | CA391609220 | SLC12A6 | c.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 |
15 | g.34254480A>C | CA391609224 | SLC12A6 | c.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 |
15 | g.34254480A>G | CA7464425 | SLC12A6 | c.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 |
15 | g.34254480A>T | CA391609227 | SLC12A6 | c.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 | |
15 | g.34254481T>A | CA391609229 | SLC12A6 | c.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 | |
15 | g.34254481T>C | CA391609232 | SLC12A6 | c.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 |
15 | g.34254481T>G | CA391609233 | SLC12A6 | c.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 | |
15 | g.34254481_34254485del | CA2580089307 | SLC12A6 | c.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 |
15 | g.34254482A>C | CA489653007 | SLC12A6 | c.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 | |
15 | g.34254482A>G | CA489653006 | SLC12A6 | c.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 |
15 | g.34254482A>T | CA489653005 | SLC12A6 | c.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 | |
15 | g.34254483del | CA2580089309 | SLC12A6 | c.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 |
15 | g.34254483A>C | CA391609234 | SLC12A6 | c.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 |
15 | g.34254483A>G | CA391609235 | SLC12A6 | c.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 | |
15 | g.34254483A>T | CA391609236 | SLC12A6 | c.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 | |
15 | g.34254484G>A | CA7464426 | SLC12A6 | c.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 |
15 | g.34254484G>C | CA391609237 | SLC12A6 | c.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 | |
15 | g.34254484G>T | CA391609239 | SLC12A6 | c.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 |
15 | g.34254485G>A | CA7464427 | SLC12A6 | c.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 |
15 | g.34254485G>C | CA489653008 | SLC12A6 | c.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 | |
15 | g.34254485G>T | CA489653009 | SLC12A6 | c.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 | |
15 | g.34254486A>C | CA391609243 | SLC12A6 | c.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 | |
15 | g.34254486A>G | CA391609245 | SLC12A6 | c.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 |
15 | g.34254486A>T | CA391609247 | SLC12A6 | c.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 |
15 | g.34254487C>A | CA391609250 | SLC12A6 | c.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 | |
15 | g.34254487C>G | CA391609251 | SLC12A6 | c.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 | |
15 | g.34254487C>T | CA7464428 | SLC12A6 | c.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 |
15 | g.34254488C>A | CA7464429 | SLC12A6 | c.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 |
15 | g.34254488C>G | CA391609255 | SLC12A6 | c.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 | |
15 | g.34254488C>T | CA489653010 | SLC12A6 | c.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 | |
15 | g.34254489A>C | CA391609257 | SLC12A6 | c.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 | |
15 | g.34254489A>G | CA391609258 | SLC12A6 | c.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 | |
15 | g.34254489A>T | CA391609260 | SLC12A6 | c.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 | |
15 | g.34254490A>C | CA391609264 | SLC12A6 | c.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 | |
15 | g.34254490A>G | CA489653011 | SLC12A6 | c.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 |
15 | g.34254490A>T | CA391609262 | SLC12A6 | c.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 | |
15 | g.34254491G>A | CA489653012 | SLC12A6 | c.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 |
15 | g.34254491G>C | CA391609267 | SLC12A6 | c.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 |
15 | g.34254491G>T | CA391609270 | SLC12A6 | c.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 | |
15 | g.34254492A>C | CA391609272 | SLC12A6 | c.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 |
15 | g.34254492A>G | CA391609274 | SLC12A6 | c.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 | |
15 | g.34254492A>T | CA391609276 | SLC12A6 | c.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 | |
15 | g.34254493A>C | CA391609277 | SLC12A6 | c.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 | |
15 | g.34254493A>G | CA391609279 | SLC12A6 | c.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 | |
15 | g.34254493A>T | CA391609281 | SLC12A6 | c.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 | |
15 | g.34254494A>C | CA489653014 | SLC12A6 | c.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 | |
15 | g.34254494A>G | CA489653015 | SLC12A6 | c.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 |
15 | g.34254494A>T | CA489653013 | SLC12A6 | c.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 | |
15 | g.34254494_34254495insACCAAACACACCCAACACA | CA2803706670 | SLC12A6 | c.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 | |
15 | g.34254495G>A | CA391609284 | SLC12A6 | c.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 |
15 | g.34254495G>C | CA391609286 | SLC12A6 | c.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 | |
15 | g.34254495G>T | CA391609288 | SLC12A6 | c.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 | |
15 | g.34254496C>A | CA391609295 | SLC12A6 | c.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 |
15 | g.34254496C>G | CA391609293 | SLC12A6 | c.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 |
15 | g.34254496C>T | CA391609291 | SLC12A6 | c.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 |
15 | g.34254497T>A | CA489653016 | SLC12A6 | c.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 | |
15 | g.34254497T>C | CA489653017 | SLC12A6 | c.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 |
15 | g.34254497T>G | CA489653018 | SLC12A6 | c.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 | |
15 | g.34254498G>A | CA391609298 | SLC12A6 | c.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 | |
15 | g.34254498G>C | CA391609300 | SLC12A6 | c.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 |
15 | g.34254498G>T | CA391609301 | SLC12A6 | c.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 | |
15 | g.34254499T>A | CA391609305 | SLC12A6 | c.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 |
15 | g.34254499T>C | CA7464430 | SLC12A6 | c.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 |
15 | g.34254499T>G | CA391609310 | SLC12A6 | c.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 | |
15 | g.34254500G>A | CA7464431 | SLC12A6 | c.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 |
15 | g.34254500G>C | CA489653019 | SLC12A6 | c.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 | |
15 | g.34254500G>T | CA489653020 | SLC12A6 | c.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 | |
15 | g.34254501C>A | CA391609312 | SLC12A6 | c.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 | |
15 | g.34254501C>G | CA391609313 | SLC12A6 | c.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 |
15 | g.34254501C>T | CA391609314 | SLC12A6 | c.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 |
15 | g.34254502C>A | CA391609316 | SLC12A6 | c.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 | |
15 | g.34254502C>G | CA391609319 | SLC12A6 | c.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 | |
15 | g.34254502C>T | CA7464432 | SLC12A6 | c.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 |
15 | g.34254503G>A | CA173455 | SLC12A6 | c.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 |
15 | g.34254503G>C | CA391609327 | SLC12A6 | c.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 | |
15 | g.34254503G>T | CA16041723 | SLC12A6 | c.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 |
15 | g.34254504T>A | CA391609332 | SLC12A6 | c.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 | |
15 | g.34254504T>C | CA391609334 | SLC12A6 | c.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 |
15 | g.34254504T>G | CA391609338 | SLC12A6 | c.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 | |
15 | g.34254505A>C | CA391609341 | SLC12A6 | c.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 | |
15 | g.34254505A>G | CA391609344 | SLC12A6 | c.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 | |
15 | g.34254505A>T | CA391609348 | SLC12A6 | c.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 | |
15 | g.34254506G>A | CA489653023 | SLC12A6 | c.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 |
15 | g.34254506G>C | CA489653022 | SLC12A6 | c.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 |
15 | g.34254506G>T | CA489653021 | SLC12A6 | c.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 | |
15 | g.34254507A>C | CA391609352 | SLC12A6 | c.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 | |
15 | g.34254507A>G | CA391609354 | SLC12A6 | c.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 | |
15 | g.34254507A>T | CA391609357 | SLC12A6 | c.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 | |
15 | g.34254508C>A | CA391609360 | SLC12A6 | c.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 | |
15 | g.34254508C>G | CA391609363 | SLC12A6 | c.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 | |
15 | g.34254508C>T | CA7464433 | SLC12A6 | c.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 |
15 | g.34254509A>C | CA489653025 | SLC12A6 | c.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 | |
15 | g.34254509A>G | CA489653024 | SLC12A6 | c.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 |
15 | g.34254509A>T | CA489653026 | SLC12A6 | c.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 |
15 | g.34254510C>A | CA391609373 | SLC12A6 | c.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 | |
15 | g.34254510C>G | CA391609370 | SLC12A6 | c.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 | |
15 | g.34254510C>T | CA268639435 | SLC12A6 | c.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 |
15 | g.34254511G>A | CA7464434 | SLC12A6 | c.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 |
15 | g.34254511G>C | CA391609382 | SLC12A6 | c.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 | |
15 | g.34254511G>T | CA391609386 | SLC12A6 | c.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 | |
15 | g.34254512C>A | CA391609391 | SLC12A6 | c.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 | |
15 | g.34254512C>G | CA391609394 | SLC12A6 | c.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 | |
15 | g.34254512C>T | CA391609395 | SLC12A6 | c.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 | |
15 | g.34254513A>C | CA391609399 | SLC12A6 | c.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 | |
15 | g.34254513A>G | CA7464435 | SLC12A6 | c.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 |
15 | g.34254513A>T | CA391609403 | SLC12A6 | c.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 | |
15 | g.34254514T>A | CA268639449 | SLC12A6 | c.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 |
15 | g.34254514T>C | CA7464436 | SLC12A6 | c.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 |
15 | g.34254514T>G | CA391609409 | SLC12A6 | c.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 | |
15 | g.34254515G>A | CA489653031 | SLC12A6 | c.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 | |
15 | g.34254515G>C | CA391609413 | SLC12A6 | c.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 | |
15 | g.34254515G>T | CA7464437 | SLC12A6 | c.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 |
15 | g.34254516T>A | CA391609421 | SLC12A6 | c.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 | |
15 | g.34254516T>C | CA391609424 | SLC12A6 | c.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 | |
15 | g.34254516T>G | CA391609418 | SLC12A6 | c.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 | |
15 | g.34254517T>A | CA391609427 | SLC12A6 | c.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 | |
15 | g.34254517T>C | CA391609430 | SLC12A6 | c.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 |
15 | g.34254517T>G | CA391609433 | SLC12A6 | c.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 | |
15 | g.34254518A>C | CA391609436 | SLC12A6 | c.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 | |
15 | g.34254518A>G | CA489653035 | SLC12A6 | c.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 | |
15 | g.34254518A>T | CA391609439 | SLC12A6 | c.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 | |
15 | g.34254519T>A | CA391609443 | SLC12A6 | c.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 | |
15 | g.34254519T>C | CA7464438 | SLC12A6 | c.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 |
15 | g.34254519T>G | CA391609446 | SLC12A6 | c.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 | |
15 | g.34254520T>A | CA391609452 | SLC12A6 | c.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 | |
15 | g.34254520T>C | CA391609454 | SLC12A6 | c.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 | |
15 | g.34254520T>G | CA391609458 | SLC12A6 | c.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 | |
15 | g.34254521T>A | CA489653043 | SLC12A6 | c.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 | |
15 | g.34254521T>C | CA489653041 | SLC12A6 | c.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 |
15 | g.34254521T>G | CA489653044 | SLC12A6 | c.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 |
15 | g.34254522A>C | CA391609463 | SLC12A6 | c.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 | |
15 | g.34254522A>G | CA391609466 | SLC12A6 | c.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 |
15 | g.34254522A>T | CA391609469 | SLC12A6 | c.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 | |
15 | g.34254523G>A | CA489653048 | SLC12A6 | c.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 | |
15 | g.34254523G>C | CA391609472 | SLC12A6 | c.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 | |
15 | g.34254523G>T | CA391609474 | SLC12A6 | c.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 | |
15 | g.34254524C>A | CA391609477 | SLC12A6 | c.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 | |
15 | g.34254524C>G | CA391609479 | SLC12A6 | c.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 | |
15 | g.34254524C>T | CA391609483 | SLC12A6 | c.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 | |
15 | g.34254525A>C | CA391609486 | SLC12A6 | c.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 | |
15 | g.34254525A>G | CA391609489 | SLC12A6 | c.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 | |
15 | g.34254525A>T | CA391609490 | SLC12A6 | c.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 | |
15 | g.34254526T>A | CA272481 | SLC12A6 | c.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 |
15 | g.34254526T>C | CA391609497 | SLC12A6 | c.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 |
15 | g.34254526T>G | CA391609498 | SLC12A6 | c.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 | |
15 | g.34254527G>A | CA489653053 | SLC12A6 | c.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 | |
15 | g.34254527G>C | CA489653054 | SLC12A6 | c.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 | |
15 | g.34254527G>T | CA489653055 | SLC12A6 | c.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 |
15 | g.34254528G>A | CA391609503 | SLC12A6 | c.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 |
15 | g.34254528G>C | CA391609505 | SLC12A6 | c.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 | |
15 | g.34254528G>T | CA268639470 | SLC12A6 | c.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 |
15 | g.34254529C>A | CA391609513 | SLC12A6 | c.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 | |
15 | g.34254529C>G | CA391609515 | SLC12A6 | c.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 | |
15 | g.34254529C>T | CA391609511 | SLC12A6 | c.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 | |
15 | g.34254530T>A | CA489653061 | SLC12A6 | c.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 | |
15 | g.34254530T>C | CA489653060 | SLC12A6 | c.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 | |
15 | g.34254530T>G | CA489653059 | SLC12A6 | c.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 | |
15 | g.34254531G>A | CA391609521 | SLC12A6 | c.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 |
15 | g.34254531G>C | CA391609518 | SLC12A6 | c.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 |
15 | g.34254531G>T | CA391609523 | SLC12A6 | c.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 | |
15 | g.34254532C>A | CA391609530 | SLC12A6 | c.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 | |
15 | g.34254532C>G | CA391609535 | SLC12A6 | c.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 | |
15 | g.34254532C>T | CA391609532 | SLC12A6 | c.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 |
15 | g.34254533T>A | CA489653065 | SLC12A6 | c.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 | |
15 | g.34254533T>C | CA489653063 | SLC12A6 | c.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 |
15 | g.34254533T>G | CA489653066 | SLC12A6 | c.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 | |
15 | g.34254534G>A | CA391609538 | SLC12A6 | c.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 | |
15 | g.34254534G>C | CA391609542 | SLC12A6 | c.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 | |
15 | g.34254534G>T | CA391609539 | SLC12A6 | c.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 | |
15 | g.34254535A>C | CA391609545 | SLC12A6 | c.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 | |
15 | g.34254535A>G | CA391609549 | SLC12A6 | c.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 | |
15 | g.34254535A>T | CA391609552 | SLC12A6 | c.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 | |
15 | g.34254536T>A | CA391609556 | SLC12A6 | c.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 | |
15 | g.34254536T>C | CA489653070 | SLC12A6 | c.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 |
15 | g.34254536T>G | CA391609559 | SLC12A6 | c.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 | |
15 | g.34254537del | CA2695197245 | SLC12A6 | c.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 |
15 | g.34254537T>A | CA7464439 | SLC12A6 | c.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 |
15 | g.34254537T>C | CA391609564 | SLC12A6 | c.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 | |
15 | g.34254537T>G | CA391609567 | SLC12A6 | c.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 | |
15 | g.34254538C>A | CA391609571 | SLC12A6 | c.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 | |
15 | g.34254538C>G | CA391609573 | SLC12A6 | c.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 |
15 | g.34254538C>T | CA391609576 | SLC12A6 | c.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 | |
15 | g.34254539C>A | CA391609580 | SLC12A6 | c.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 | |
15 | g.34254539C>G | CA391609581 | SLC12A6 | c.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 |
15 | g.34254539C>T | CA489653075 | SLC12A6 | c.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 |
15 | g.34254540T>A | CA391609584 | SLC12A6 | c.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 | |
15 | g.34254540T>C | CA268639477 | SLC12A6 | c.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 |
15 | g.34254540T>G | CA391609588 | SLC12A6 | c.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 | |
15 | g.34254541T>A | CA391609591 | SLC12A6 | c.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 | |
15 | g.34254541T>C | CA391609594 | SLC12A6 | c.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 | |
15 | g.34254541T>G | CA391609595 | SLC12A6 | c.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 | |
15 | g.34254542G>A | CA489653081 | SLC12A6 | c.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 | |
15 | g.34254542G>C | CA7464440 | SLC12A6 | c.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 |
15 | g.34254542G>T | CA489653079 | SLC12A6 | c.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 | |
15 | g.34254543A>C | CA391609603 | SLC12A6 | c.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 | |
15 | g.34254543A>G | CA391609608 | SLC12A6 | c.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 | |
15 | g.34254543A>T | CA391609610 | SLC12A6 | c.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 | |
15 | g.34254544G>A | CA391609617 | SLC12A6 | c.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 |
15 | g.34254544G>C | CA391609619 | SLC12A6 | c.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 |
15 | g.34254544G>T | CA391609615 | SLC12A6 | c.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 | |
15 | g.34254545T>A | CA489653086 | SLC12A6 | c.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 | |
15 | g.34254545T>C | CA489653087 | SLC12A6 | c.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 |
15 | g.34254545T>G | CA489653090 | SLC12A6 | c.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 |
15 | g.34254546G>A | CA7464441 | SLC12A6 | c.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 |
15 | g.34254546G>C | CA391609624 | SLC12A6 | c.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 | |
15 | g.34254546G>T | CA391609627 | SLC12A6 | c.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 |
15 | g.34254547C>A | CA7464442 | SLC12A6 | c.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 |
15 | g.34254547C>G | CA391609633 | SLC12A6 | c.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 | |
15 | g.34254547C>T | CA391609636 | SLC12A6 | c.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 |
15 | g.34254548G>A | CA7464443 | SLC12A6 | c.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 |
15 | g.34254548G>C | CA391609640 | SLC12A6 | c.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 | |
15 | g.34254548G>T | CA391609644 | SLC12A6 | c.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 |
15 | g.34254549T>A | CA391609648 | SLC12A6 | c.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 | |
15 | g.34254549T>C | CA391609650 | SLC12A6 | c.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 | |
15 | g.34254549T>G | CA391609653 | SLC12A6 | c.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 | |
15 | g.34254550C>A | CA391609659 | SLC12A6 | c.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 | |
15 | g.34254550C>G | CA268639497 | SLC12A6 | c.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 |
15 | g.34254550C>T | CA391609656 | SLC12A6 | c.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 |
15 | g.34254551A>C | CA391609660 | SLC12A6 | c.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 | |
15 | g.34254551A>G | CA489653102 | SLC12A6 | c.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 |
15 | g.34254551A>T | CA391609661 | SLC12A6 | c.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 | |
15 | g.34254552T>A | CA391609662 | SLC12A6 | c.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 | |
15 | g.34254552T>C | CA391609663 | SLC12A6 | c.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 |
15 | g.34254552T>G | CA391609664 | SLC12A6 | c.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 | |
15 | g.34254553C>A | CA391609667 | SLC12A6 | c.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 | |
15 | g.34254553C>G | CA391609668 | SLC12A6 | c.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 |
15 | g.34254553C>T | CA391609672 | SLC12A6 | c.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 | |
15 | g.34254554A>C | CA391609675 | SLC12A6 | c.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 | |
15 | g.34254554A>G | CA268639502 | SLC12A6 | c.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 |
15 | g.34254554A>T | CA391609677 | SLC12A6 | c.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 | |
15 | g.34254555C>A | CA391609681 | SLC12A6 | c.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 | |
15 | g.34254555C>G | CA391609684 | SLC12A6 | c.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 | |
15 | g.34254555C>T | CA391609686 | SLC12A6 | c.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 |
15 | g.34254556T>A | CA391609693 | SLC12A6 | c.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 | |
15 | g.34254556T>C | CA391609695 | SLC12A6 | c.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 | |
15 | g.34254556T>G | CA391609691 | SLC12A6 | c.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 | |
15 | g.34254557G>A | CA489653113 | SLC12A6 | c.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 | |
15 | g.34254557G>C | CA391609700 | SLC12A6 | c.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 |
15 | g.34254557G>T | CA391609702 | SLC12A6 | c.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 | |
15 | g.34254558_34254567del | CA2695197246 | SLC12A6 | c.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 |
15 | g.34254558T>A | CA391609706 | SLC12A6 | c.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 | |
15 | g.34254558T>C | CA391609708 | SLC12A6 | c.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 | |
15 | g.34254558T>G | CA391609710 | SLC12A6 | c.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 | |
15 | g.34254559G>A | CA391609714 | SLC12A6 | c.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 |
15 | g.34254559G>C | CA391609717 | SLC12A6 | c.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 | |
15 | g.34254559G>T | CA7464444 | SLC12A6 | c.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 |
15 | g.34254560A>C | CA391609723 | SLC12A6 | c.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 | |
15 | g.34254560A>G | CA489653123 | SLC12A6 | c.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 |
15 | g.34254560A>T | CA391609725 | SLC12A6 | c.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 | |
15 | g.34254561A>C | CA391609728 | SLC12A6 | c.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 | |
15 | g.34254561A>G | CA391609731 | SLC12A6 | c.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 | |
15 | g.34254561A>T | CA391609734 | SLC12A6 | c.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 | |
15 | g.34254562A>C | CA391609739 | SLC12A6 | c.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 | |
15 | g.34254562A>G | CA391609737 | SLC12A6 | c.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 | |
15 | g.34254562A>T | CA7464445 | SLC12A6 | c.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 |
15 | g.34254563G>A | CA489653130 | SLC12A6 | c.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 | |
15 | g.34254563G>C | CA391609741 | SLC12A6 | c.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 |
15 | g.34254563G>T | CA489653132 | SLC12A6 | c.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 |
15 | g.34254564A>C | CA391609744 | SLC12A6 | c.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 | |
15 | g.34254564A>G | CA391609746 | SLC12A6 | c.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 | |
15 | g.34254564A>T | CA391609749 | SLC12A6 | c.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 | |
15 | g.34254565del | CA253466 | SLC12A6 | c.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 |
15 | g.34254565T>A | CA391609753 | SLC12A6 | c.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 | |
15 | g.34254565T>C | CA7464446 | SLC12A6 | c.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 |
15 | g.34254565T>G | CA391609757 | SLC12A6 | c.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 |