Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42787309A= | CA2260641830 | WNK4 | c.1508A= (p.Tyr503=) n.188A= c.*9A= (n.*9A=) c.500A= (p.Tyr167=) | |
17 | g.42787309A>C | CA8584008 | WNK4 | c.1508A>C (p.Tyr503Ser) n.188A>C c.*9A>C (n.*9A>C) c.500A>C (p.Tyr167Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42787309A>G | CA399656226 | WNK4 | c.1508A>G (p.Tyr503Cys) n.188A>G c.*9A>G (n.*9A>G) c.500A>G (p.Tyr167Cys) | |
17 | g.42787309A>T | CA399656227 | WNK4 | c.1508A>T (p.Tyr503Phe) n.188A>T c.*9A>T (n.*9A>T) c.500A>T (p.Tyr167Phe) | |
17 | g.42787310C>A | CA399656231 | WNK4 | c.1509C>A (p.Tyr503Ter) n.189C>A c.*10C>A (n.*10C>A) c.501C>A (p.Tyr167Ter) | |
17 | g.42787310C>G | CA399656234 | WNK4 | c.1509C>G (p.Tyr503Ter) n.189C>G c.*10C>G (n.*10C>G) c.501C>G (p.Tyr167Ter) | |
17 | g.42787310C>T | CA500225365 | WNK4 | c.1509C>T (p.Tyr503=) n.189C>T c.*10C>T (n.*10C>T) c.501C>T (p.Tyr167=) | |
17 | g.42787311C>A | CA399656238 | WNK4 | c.1510C>A (p.Gln504Lys) n.190C>A c.*11C>A (n.*11C>A) c.502C>A (p.Gln168Lys) | |
17 | g.42787311C= | CA2260641831 | WNK4 | c.1510C= (p.Gln504=) n.190C= c.*11C= (n.*11C=) c.502C= (p.Gln168=) | |
17 | g.42787311C>G | CA399656241 | WNK4 | c.1510C>G (p.Gln504Glu) n.190C>G c.*11C>G (n.*11C>G) c.502C>G (p.Gln168Glu) | |
17 | g.42787311C>T | CA8584009 | WNK4 | c.1510C>T (p.Gln504Ter) n.190C>T c.*11C>T (n.*11C>T) c.502C>T (p.Gln168Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787312A>C | CA399656247 | WNK4 | c.1511A>C (p.Gln504Pro) n.191A>C c.*12A>C (n.*12A>C) c.503A>C (p.Gln168Pro) | |
17 | g.42787312A>G | CA399656250 | WNK4 | c.1511A>G (p.Gln504Arg) n.191A>G c.*12A>G (n.*12A>G) c.503A>G (p.Gln168Arg) | |
17 | g.42787312A>T | CA399656253 | WNK4 | c.1511A>T (p.Gln504Leu) n.191A>T c.*12A>T (n.*12A>T) c.503A>T (p.Gln168Leu) | |
17 | g.42787313G>A | CA500225366 | WNK4 | c.1512G>A (p.Gln504=) n.192G>A c.*13G>A (n.*13G>A) c.504G>A (p.Gln168=) | |
17 | g.42787313G>C | CA399656257 | WNK4 | c.1512G>C (p.Gln504His) n.192G>C c.*13G>C (n.*13G>C) c.504G>C (p.Gln168His) | |
17 | g.42787313G>T | CA399656259 | WNK4 | c.1512G>T (p.Gln504His) n.192G>T c.*13G>T (n.*13G>T) c.504G>T (p.Gln168His) | |
17 | g.42787314C>A | CA399656263 | WNK4 | c.1513C>A (p.Pro505Thr) n.193C>A c.*14C>A (n.*14C>A) c.505C>A (p.Pro169Thr) | |
17 | g.42787314C= | CA2260641832 | WNK4 | c.1513C= (p.Pro505=) n.193C= c.*14C= (n.*14C=) c.505C= (p.Pro169=) | |
17 | g.42787314C>G | CA399656266 | WNK4 | c.1513C>G (p.Pro505Ala) n.193C>G c.*14C>G (n.*14C>G) c.505C>G (p.Pro169Ala) | |
17 | g.42787314C>T | CA8584010 | WNK4 | c.1513C>T (p.Pro505Ser) n.193C>T c.*14C>T (n.*14C>T) c.505C>T (p.Pro169Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787315C>A | CA399656277 | WNK4 | c.1514C>A (p.Pro505Gln) n.194C>A c.*15C>A (n.*15C>A) c.506C>A (p.Pro169Gln) | |
17 | g.42787315C>G | CA399656280 | WNK4 | c.1514C>G (p.Pro505Arg) n.194C>G c.*15C>G (n.*15C>G) c.506C>G (p.Pro169Arg) | |
17 | g.42787315C>T | CA399656274 | WNK4 | c.1514C>T (p.Pro505Leu) n.194C>T c.*15C>T (n.*15C>T) c.506C>T (p.Pro169Leu) | |
17 | g.42787316A>C | CA500225367 | WNK4 | c.1515A>C (p.Pro505=) n.195A>C c.*16A>C (n.*16A>C) c.507A>C (p.Pro169=) | |
17 | g.42787316A>G | CA500225368 | WNK4 | c.1515A>G (p.Pro505=) n.195A>G c.*16A>G (n.*16A>G) c.507A>G (p.Pro169=) | |
17 | g.42787316A>T | CA500225369 | WNK4 | c.1515A>T (p.Pro505=) n.195A>T c.*16A>T (n.*16A>T) c.507A>T (p.Pro169=) | |
17 | g.42787317G>A | CA399656282 | WNK4 | c.1516G>A (p.Val506Met) n.196G>A c.*17G>A (n.*17G>A) c.508G>A (p.Val170Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787317G>C | CA399656283 | WNK4 | c.1516G>C (p.Val506Leu) n.196G>C c.*17G>C (n.*17G>C) c.508G>C (p.Val170Leu) | |
17 | g.42787317G= | CA2260641833 | WNK4 | c.1516G= (p.Val506=) n.196G= c.*17G= (n.*17G=) c.508G= (p.Val170=) | |
17 | g.42787317G>T | CA399656286 | WNK4 | c.1516G>T (p.Val506Leu) n.196G>T c.*17G>T (n.*17G>T) c.508G>T (p.Val170Leu) | |
17 | g.42787318T>A | CA399656290 | WNK4 | c.1517T>A (p.Val506Glu) n.197T>A c.*18T>A (n.*18T>A) c.509T>A (p.Val170Glu) | |
17 | g.42787318T>C | CA399656300 | WNK4 | c.1517T>C (p.Val506Ala) n.197T>C c.*18T>C (n.*18T>C) c.509T>C (p.Val170Ala) | |
17 | g.42787318T>G | CA399656303 | WNK4 | c.1517T>G (p.Val506Gly) n.197T>G c.*18T>G (n.*18T>G) c.509T>G (p.Val170Gly) | |
17 | g.42787319G>A | CA500225372 | WNK4 | c.1518G>A (p.Val506=) n.198G>A c.*19G>A (n.*19G>A) c.510G>A (p.Val170=) | |
17 | g.42787319G>C | CA500225370 | WNK4 | c.1518G>C (p.Val506=) n.198G>C c.*19G>C (n.*19G>C) c.510G>C (p.Val170=) | |
17 | g.42787319G>T | CA500225371 | WNK4 | c.1518G>T (p.Val506=) n.198G>T c.*19G>T (n.*19G>T) c.510G>T (p.Val170=) | |
17 | g.42787320G>A | CA399656305 | WNK4 | c.1519G>A (p.Ala507Thr) n.199G>A c.*20G>A (n.*20G>A) c.511G>A (p.Ala171Thr) | |
17 | g.42787320G>C | CA399656307 | WNK4 | c.1519G>C (p.Ala507Pro) n.199G>C c.*20G>C (n.*20G>C) c.511G>C (p.Ala171Pro) | |
17 | g.42787320G>T | CA399656310 | WNK4 | c.1519G>T (p.Ala507Ser) n.199G>T c.*20G>T (n.*20G>T) c.511G>T (p.Ala171Ser) | |
17 | g.42787321C>A | CA399656313 | WNK4 | c.1520C>A (p.Ala507Asp) n.200C>A c.*21C>A (n.*21C>A) c.512C>A (p.Ala171Asp) | |
17 | g.42787321C>G | CA399656315 | WNK4 | c.1520C>G (p.Ala507Gly) n.200C>G c.*21C>G (n.*21C>G) c.512C>G (p.Ala171Gly) | |
17 | g.42787321C>T | CA399656316 | WNK4 | c.1520C>T (p.Ala507Val) n.200C>T c.*21C>T (n.*21C>T) c.512C>T (p.Ala171Val) | |
17 | g.42787322C>A | CA500225373 | WNK4 | c.1521C>A (p.Ala507=) n.201C>A c.*22C>A (n.*22C>A) c.513C>A (p.Ala171=) | |
17 | g.42787322C>G | CA500225374 | WNK4 | c.1521C>G (p.Ala507=) n.201C>G c.*22C>G (n.*22C>G) c.513C>G (p.Ala171=) | |
17 | g.42787322C>T | CA500225375 | WNK4 | c.1521C>T (p.Ala507=) n.201C>T c.*22C>T (n.*22C>T) c.513C>T (p.Ala171=) | COSMIC COSMIC |
17 | g.42787323C>A | CA399656317 | WNK4 | c.1522C>A (p.Arg508Ser) n.202C>A c.*23C>A (n.*23C>A) c.514C>A (p.Arg172Ser) | |
17 | g.42787323C= | CA2260641834 | WNK4 | c.1522C= (p.Arg508=) n.202C= c.*23C= (n.*23C=) c.514C= (p.Arg172=) | |
17 | g.42787323C>G | CA399656318 | WNK4 | c.1522C>G (p.Arg508Gly) n.202C>G c.*23C>G (n.*23C>G) c.514C>G (p.Arg172Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787323C>T | CA8584011 | WNK4 | c.1522C>T (p.Arg508Cys) n.202C>T c.*23C>T (n.*23C>T) c.514C>T (p.Arg172Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787324G>A | CA8584012 | WNK4 | c.1523G>A (p.Arg508His) n.203G>A c.*24G>A (n.*24G>A) c.515G>A (p.Arg172His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.42787324G>C | CA399656323 | WNK4 | c.1523G>C (p.Arg508Pro) n.203G>C c.*24G>C (n.*24G>C) c.515G>C (p.Arg172Pro) | |
17 | g.42787324G= | CA2260641835 | WNK4 | c.1523G= (p.Arg508=) n.203G= c.*24G= (n.*24G=) c.515G= (p.Arg172=) | |
17 | g.42787324G>T | CA399656326 | WNK4 | c.1523G>T (p.Arg508Leu) n.203G>T c.*24G>T (n.*24G>T) c.515G>T (p.Arg172Leu) | dbSNP |
17 | g.42787325T>A | CA500225376 | WNK4 | c.1524T>A (p.Arg508=) n.204T>A c.*25T>A (n.*25T>A) c.516T>A (p.Arg172=) | |
17 | g.42787325T>C | CA8584013 | WNK4 | c.1524T>C (p.Arg508=) n.204T>C c.*25T>C (n.*25T>C) c.516T>C (p.Arg172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787325T>G | CA500225377 | WNK4 | c.1524T>G (p.Arg508=) n.204T>G c.*25T>G (n.*25T>G) c.516T>G (p.Arg172=) | gnomAD v4 |
17 | g.42787325T= | CA2260641836 | WNK4 | c.1524T= (p.Arg508=) n.204T= c.*25T= (n.*25T=) c.516T= (p.Arg172=) | |
17 | g.42787326G>A | CA399656338 | WNK4 | c.1525G>A (p.Ala509Thr) n.205G>A c.*26G>A (n.*26G>A) c.517G>A (p.Ala173Thr) | |
17 | g.42787326G>C | CA399656335 | WNK4 | c.1525G>C (p.Ala509Pro) n.205G>C c.*26G>C (n.*26G>C) c.517G>C (p.Ala173Pro) | |
17 | g.42787326G>T | CA399656332 | WNK4 | c.1525G>T (p.Ala509Ser) n.205G>T c.*26G>T (n.*26G>T) c.517G>T (p.Ala173Ser) | |
17 | g.42787327C>A | CA399656341 | WNK4 | c.1526C>A (p.Ala509Glu) n.206C>A c.*27C>A (n.*27C>A) c.518C>A (p.Ala173Glu) | |
17 | g.42787327C= | CA2260641837 | WNK4 | c.1526C= (p.Ala509=) n.206C= c.*27C= (n.*27C=) c.518C= (p.Ala173=) | |
17 | g.42787327C>G | CA399656343 | WNK4 | c.1526C>G (p.Ala509Gly) n.206C>G c.*27C>G (n.*27C>G) c.518C>G (p.Ala173Gly) | |
17 | g.42787327C>T | CA8584014 | WNK4 | c.1526C>T (p.Ala509Val) n.206C>T c.*27C>T (n.*27C>T) c.518C>T (p.Ala173Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787328A= | CA2260641838 | WNK4 | c.1527A= (p.Ala509=) n.207A= c.*28A= (n.*28A=) c.519A= (p.Ala173=) | |
17 | g.42787328A>C | CA500225378 | WNK4 | c.1527A>C (p.Ala509=) n.207A>C c.*28A>C (n.*28A>C) c.519A>C (p.Ala173=) | |
17 | g.42787328A>G | CA500225380 | WNK4 | c.1527A>G (p.Ala509=) n.207A>G c.*28A>G (n.*28A>G) c.519A>G (p.Ala173=) | ClinVar dbSNP gnomAD v4 |
17 | g.42787328A>T | CA500225379 | WNK4 | c.1527A>T (p.Ala509=) n.207A>T c.*28A>T (n.*28A>T) c.519A>T (p.Ala173=) | |
17 | g.42787329G>A | CA399656350 | WNK4 | c.1528G>A (p.Val510Ile) n.208G>A c.*29G>A (n.*29G>A) c.520G>A (p.Val174Ile) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787329G>C | CA399656351 | WNK4 | c.1528G>C (p.Val510Leu) n.208G>C c.*29G>C (n.*29G>C) c.520G>C (p.Val174Leu) | |
17 | g.42787329G= | CA2260641839 | WNK4 | c.1528G= (p.Val510=) n.208G= c.*29G= (n.*29G=) c.520G= (p.Val174=) | |
17 | g.42787329G>T | CA399656353 | WNK4 | c.1528G>T (p.Val510Leu) n.208G>T c.*29G>T (n.*29G>T) c.520G>T (p.Val174Leu) | |
17 | g.42787330T>A | CA399656361 | WNK4 | c.1529T>A (p.Val510Glu) n.209T>A c.*30T>A (n.*30T>A) c.521T>A (p.Val174Glu) | |
17 | g.42787330T>C | CA8584015 | WNK4 | c.1529T>C (p.Val510Ala) n.209T>C c.*30T>C (n.*30T>C) c.521T>C (p.Val174Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787330T>G | CA399656357 | WNK4 | c.1529T>G (p.Val510Gly) n.209T>G c.*30T>G (n.*30T>G) c.521T>G (p.Val174Gly) | |
17 | g.42787330T= | CA2260641840 | WNK4 | c.1529T= (p.Val510=) n.209T= c.*30T= (n.*30T=) c.521T= (p.Val174=) | |
17 | g.42787331A>C | CA500225383 | WNK4 | c.1530A>C (p.Val510=) n.210A>C c.*31A>C (n.*31A>C) c.522A>C (p.Val174=) | |
17 | g.42787331A>G | CA500225381 | WNK4 | c.1530A>G (p.Val510=) n.210A>G c.*31A>G (n.*31A>G) c.522A>G (p.Val174=) | |
17 | g.42787331A>T | CA500225382 | WNK4 | c.1530A>T (p.Val510=) n.210A>T c.*31A>T (n.*31A>T) c.522A>T (p.Val174=) | |
17 | g.42787332C>A | CA399656364 | WNK4 | c.1531C>A (p.Arg511Ser) n.211C>A c.*32C>A (n.*32C>A) c.523C>A (p.Arg175Ser) | |
17 | g.42787332C= | CA2260641841 | WNK4 | c.1531C= (p.Arg511=) n.211C= c.*32C= (n.*32C=) c.523C= (p.Arg175=) | |
17 | g.42787332C>G | CA399656368 | WNK4 | c.1531C>G (p.Arg511Gly) n.211C>G c.*32C>G (n.*32C>G) c.523C>G (p.Arg175Gly) | |
17 | g.42787332C>T | CA8584016 | WNK4 | c.1531C>T (p.Arg511Cys) n.211C>T c.*32C>T (n.*32C>T) c.523C>T (p.Arg175Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787333G>A | CA8584017 | WNK4 | c.1532G>A (p.Arg511His) n.212G>A c.*33G>A (n.*33G>A) c.524G>A (p.Arg175His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.42787333G>C | CA399656376 | WNK4 | c.1532G>C (p.Arg511Pro) n.212G>C c.*33G>C (n.*33G>C) c.524G>C (p.Arg175Pro) | COSMIC COSMIC |
17 | g.42787333G= | CA2260641842 | WNK4 | c.1532G= (p.Arg511=) n.212G= c.*33G= (n.*33G=) c.524G= (p.Arg175=) | |
17 | g.42787333G>T | CA399656373 | WNK4 | c.1532G>T (p.Arg511Leu) n.212G>T c.*33G>T (n.*33G>T) c.524G>T (p.Arg175Leu) | |
17 | g.42787334T>A | CA500225384 | WNK4 | c.1533T>A (p.Arg511=) n.213T>A c.*34T>A (n.*34T>A) c.525T>A (p.Arg175=) | |
17 | g.42787334T>C | CA8584018 | WNK4 | c.1533T>C (p.Arg511=) n.213T>C c.*34T>C (n.*34T>C) c.525T>C (p.Arg175=) | dbSNP ExAC gnomAD v2 |
17 | g.42787334T>G | CA500225385 | WNK4 | c.1533T>G (p.Arg511=) n.213T>G c.*34T>G (n.*34T>G) c.525T>G (p.Arg175=) | |
17 | g.42787334T= | CA2260641843 | WNK4 | c.1533T= (p.Arg511=) n.213T= c.*34T= (n.*34T=) c.525T= (p.Arg175=) | |
17 | g.42787335G>A | CA399656381 | WNK4 | c.1534G>A (p.Glu512Lys) n.214G>A c.*35G>A (n.*35G>A) c.526G>A (p.Glu176Lys) | |
17 | g.42787335G>C | CA399656384 | WNK4 | c.1534G>C (p.Glu512Gln) n.214G>C c.*35G>C (n.*35G>C) c.526G>C (p.Glu176Gln) | |
17 | g.42787335G>T | CA399656387 | WNK4 | c.1534G>T (p.Glu512Ter) n.214G>T c.*35G>T (n.*35G>T) c.526G>T (p.Glu176Ter) | |
17 | g.42787336A>C | CA399656392 | WNK4 | c.1535A>C (p.Glu512Ala) n.215A>C c.*36A>C (n.*36A>C) c.527A>C (p.Glu176Ala) | |
17 | g.42787336A>G | CA399656395 | WNK4 | c.1535A>G (p.Glu512Gly) n.215A>G c.*36A>G (n.*36A>G) c.527A>G (p.Glu176Gly) | |
17 | g.42787336A>T | CA399656398 | WNK4 | c.1535A>T (p.Glu512Val) n.215A>T c.*36A>T (n.*36A>T) c.527A>T (p.Glu176Val) | |
17 | g.42787337A>C | CA399656401 | WNK4 | c.1536A>C (p.Glu512Asp) n.216A>C c.*37A>C (n.*37A>C) c.528A>C (p.Glu176Asp) | |
17 | g.42787337A>G | CA500225386 | WNK4 | c.1536A>G (p.Glu512=) n.216A>G c.*37A>G (n.*37A>G) c.528A>G (p.Glu176=) | |
17 | g.42787337A>T | CA399656404 | WNK4 | c.1536A>T (p.Glu512Asp) n.216A>T c.*37A>T (n.*37A>T) c.528A>T (p.Glu176Asp) | |
17 | g.42787338C>A | CA500225387 | WNK4 | c.1537C>A (p.Arg513=) n.217C>A c.*38C>A (n.*38C>A) c.529C>A (p.Arg177=) | |
17 | g.42787338C= | CA2260641844 | WNK4 | c.1537C= (p.Arg513=) n.217C= c.*38C= (n.*38C=) c.529C= (p.Arg177=) | |
17 | g.42787338C>G | CA399656408 | WNK4 | c.1537C>G (p.Arg513Gly) n.217C>G c.*38C>G (n.*38C>G) c.529C>G (p.Arg177Gly) | |
17 | g.42787338C>T | CA8584019 | WNK4 | c.1537C>T (p.Arg513Trp) n.217C>T c.*38C>T (n.*38C>T) c.529C>T (p.Arg177Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787339G>A | CA399656416 | WNK4 | c.1538G>A (p.Arg513Gln) n.218G>A c.*39G>A (n.*39G>A) c.530G>A (p.Arg177Gln) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42787339G>C | CA399656412 | WNK4 | c.1538G>C (p.Arg513Pro) n.218G>C c.*39G>C (n.*39G>C) c.530G>C (p.Arg177Pro) | gnomAD v4 |
17 | g.42787339G= | CA2260641845 | WNK4 | c.1538G= (p.Arg513=) n.218G= c.*39G= (n.*39G=) c.530G= (p.Arg177=) | |
17 | g.42787339G>T | CA399656415 | WNK4 | c.1538G>T (p.Arg513Leu) n.218G>T c.*39G>T (n.*39G>T) c.530G>T (p.Arg177Leu) | |
17 | g.42787340G>A | CA500225388 | WNK4 | c.1539G>A (p.Arg513=) n.219G>A c.*40G>A (n.*40G>A) c.531G>A (p.Arg177=) | |
17 | g.42787340G>C | CA500225389 | WNK4 | c.1539G>C (p.Arg513=) n.219G>C c.*40G>C (n.*40G>C) c.531G>C (p.Arg177=) | |
17 | g.42787340G= | CA2260641846 | WNK4 | c.1539G= (p.Arg513=) n.219G= c.*40G= (n.*40G=) c.531G= (p.Arg177=) | |
17 | g.42787340G>T | CA8584020 | WNK4 | c.1539G>T (p.Arg513=) n.219G>T c.*40G>T (n.*40G>T) c.531G>T (p.Arg177=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42787341G>A | CA399656421 | WNK4 | c.1540G>A (p.Val514Ile) n.220G>A c.*41G>A (n.*41G>A) c.532G>A (p.Val178Ile) | |
17 | g.42787341G>C | CA399656424 | WNK4 | c.1540G>C (p.Val514Leu) n.220G>C c.*41G>C (n.*41G>C) c.532G>C (p.Val178Leu) | |
17 | g.42787341G>T | CA399656427 | WNK4 | c.1540G>T (p.Val514Phe) n.220G>T c.*41G>T (n.*41G>T) c.532G>T (p.Val178Phe) | |
17 | g.42787342T>A | CA399656430 | WNK4 | c.1541T>A (p.Val514Asp) n.221T>A c.*42T>A (n.*42T>A) c.533T>A (p.Val178Asp) | gnomAD v4 |
17 | g.42787342T>C | CA399656433 | WNK4 | c.1541T>C (p.Val514Ala) n.221T>C c.*42T>C (n.*42T>C) c.533T>C (p.Val178Ala) | |
17 | g.42787342T>G | CA399656435 | WNK4 | c.1541T>G (p.Val514Gly) n.221T>G c.*42T>G (n.*42T>G) c.533T>G (p.Val178Gly) | |
17 | g.42787343T>A | CA500225390 | WNK4 | c.1542T>A (p.Val514=) n.222T>A c.*43T>A (n.*43T>A) c.534T>A (p.Val178=) | |
17 | g.42787343T>C | CA500225391 | WNK4 | c.1542T>C (p.Val514=) n.222T>C c.*43T>C (n.*43T>C) c.534T>C (p.Val178=) | |
17 | g.42787343T>G | CA500225392 | WNK4 | c.1542T>G (p.Val514=) n.222T>G c.*43T>G (n.*43T>G) c.534T>G (p.Val178=) | dbSNP gnomAD v4 |
17 | g.42787343T= | CA2260641847 | WNK4 | c.1542T= (p.Val514=) n.222T= c.*43T= (n.*43T=) c.534T= (p.Val178=) | |
17 | g.42787344G>A | CA8584021 | WNK4 | c.1543G>A (p.Ala515Thr) n.223G>A c.*44G>A (n.*44G>A) c.535G>A (p.Ala179Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787344G>C | CA399656439 | WNK4 | c.1543G>C (p.Ala515Pro) n.223G>C c.*44G>C (n.*44G>C) c.535G>C (p.Ala179Pro) | |
17 | g.42787344G= | CA2260641849 | WNK4 | c.1543G= (p.Ala515=) n.223G= c.*44G= (n.*44G=) c.535G= (p.Ala179=) | |
17 | g.42787344G>T | CA399656442 | WNK4 | c.1543G>T (p.Ala515Ser) n.223G>T c.*44G>T (n.*44G>T) c.535G>T (p.Ala179Ser) | |
17 | g.42787344dup | CA2260641848 | WNK4 | c.1543dup (p.Ala515GlyfsTer8) n.223dup c.*44dup (n.*44dup) c.535dup (p.Ala179GlyfsTer8) | dbSNP gnomAD v4 |
17 | g.42787345C>A | CA399656449 | WNK4 | c.1544C>A (p.Ala515Asp) n.224C>A c.*45C>A (n.*45C>A) c.536C>A (p.Ala179Asp) | |
17 | g.42787345C>G | CA399656451 | WNK4 | c.1544C>G (p.Ala515Gly) n.224C>G c.*45C>G (n.*45C>G) c.536C>G (p.Ala179Gly) | |
17 | g.42787345C>T | CA399656445 | WNK4 | c.1544C>T (p.Ala515Val) n.224C>T c.*45C>T (n.*45C>T) c.536C>T (p.Ala179Val) | |
17 | g.42787346T>A | CA500225393 | WNK4 | c.1545T>A (p.Ala515=) n.225T>A c.*46T>A (n.*46T>A) c.537T>A (p.Ala179=) | |
17 | g.42787346T>C | CA500225394 | WNK4 | c.1545T>C (p.Ala515=) n.225T>C c.*46T>C (n.*46T>C) c.537T>C (p.Ala179=) | |
17 | g.42787346T>G | CA500225395 | WNK4 | c.1545T>G (p.Ala515=) n.225T>G c.*46T>G (n.*46T>G) c.537T>G (p.Ala179=) | |
17 | g.42787347G>A | CA399656452 | WNK4 | c.1546G>A (p.Ala516Thr) n.226G>A c.*47G>A (n.*47G>A) c.538G>A (p.Ala180Thr) | |
17 | g.42787347G>C | CA399656454 | WNK4 | c.1546G>C (p.Ala516Pro) n.226G>C c.*47G>C (n.*47G>C) c.538G>C (p.Ala180Pro) | |
17 | g.42787347G>T | CA399656456 | WNK4 | c.1546G>T (p.Ala516Ser) n.226G>T c.*47G>T (n.*47G>T) c.538G>T (p.Ala180Ser) | |
17 | g.42787348C>A | CA399656460 | WNK4 | c.1547C>A (p.Ala516Asp) n.227C>A c.*48C>A (n.*48C>A) c.539C>A (p.Ala180Asp) | dbSNP gnomAD v4 |
17 | g.42787348C= | CA2260641850 | WNK4 | c.1547C= (p.Ala516=) n.227C= c.*48C= (n.*48C=) c.539C= (p.Ala180=) | |
17 | g.42787348C>G | CA399656463 | WNK4 | c.1547C>G (p.Ala516Gly) n.227C>G c.*48C>G (n.*48C>G) c.539C>G (p.Ala180Gly) | |
17 | g.42787348C>T | CA399656464 | WNK4 | c.1547C>T (p.Ala516Val) n.227C>T c.*48C>T (n.*48C>T) c.539C>T (p.Ala180Val) | |
17 | g.42787349C>A | CA500225396 | WNK4 | c.1548C>A (p.Ala516=) n.228C>A c.*49C>A (n.*49C>A) c.540C>A (p.Ala180=) | gnomAD v4 |
17 | g.42787349C= | CA2260641851 | WNK4 | c.1548C= (p.Ala516=) n.228C= c.*49C= (n.*49C=) c.540C= (p.Ala180=) | |
17 | g.42787349C>G | CA500225397 | WNK4 | c.1548C>G (p.Ala516=) n.228C>G c.*49C>G (n.*49C>G) c.540C>G (p.Ala180=) | |
17 | g.42787349C>T | CA500225398 | WNK4 | c.1548C>T (p.Ala516=) n.228C>T c.*49C>T (n.*49C>T) c.540C>T (p.Ala180=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787350A= | CA2260641852 | WNK4 | c.1549A= (p.Ile517=) n.229A= c.*50A= (n.*50A=) c.541A= (p.Ile181=) | |
17 | g.42787350A>C | CA399656467 | WNK4 | c.1549A>C (p.Ile517Leu) n.229A>C c.*50A>C (n.*50A>C) c.541A>C (p.Ile181Leu) | dbSNP |
17 | g.42787350A>G | CA399656470 | WNK4 | c.1549A>G (p.Ile517Val) n.229A>G c.*50A>G (n.*50A>G) c.541A>G (p.Ile181Val) | |
17 | g.42787350A>T | CA399656473 | WNK4 | c.1549A>T (p.Ile517Phe) n.229A>T c.*50A>T (n.*50A>T) c.541A>T (p.Ile181Phe) | |
17 | g.42787351T>A | CA290785025 | WNK4 | c.1550T>A (p.Ile517Asn) n.230T>A c.*51T>A (n.*51T>A) c.542T>A (p.Ile181Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787351T>C | CA399656480 | WNK4 | c.1550T>C (p.Ile517Thr) n.230T>C c.*51T>C (n.*51T>C) c.542T>C (p.Ile181Thr) | |
17 | g.42787351T>G | CA399656484 | WNK4 | c.1550T>G (p.Ile517Ser) n.230T>G c.*51T>G (n.*51T>G) c.542T>G (p.Ile181Ser) | |
17 | g.42787351T= | CA2260641853 | WNK4 | c.1550T= (p.Ile517=) n.230T= c.*51T= (n.*51T=) c.542T= (p.Ile181=) | |
17 | g.42787352C>A | CA500225399 | WNK4 | c.1551C>A (p.Ile517=) n.231C>A c.*52C>A (n.*52C>A) c.543C>A (p.Ile181=) | COSMIC COSMIC |
17 | g.42787352C>G | CA399656488 | WNK4 | c.1551C>G (p.Ile517Met) n.231C>G c.*52C>G (n.*52C>G) c.543C>G (p.Ile181Met) | |
17 | g.42787352C>T | CA500225400 | WNK4 | c.1551C>T (p.Ile517=) n.231C>T c.*52C>T (n.*52C>T) c.543C>T (p.Ile181=) | |
17 | g.42787353C>A | CA399656497 | WNK4 | c.1552C>A (p.Gln518Lys) n.232C>A c.*53C>A (n.*53C>A) c.544C>A (p.Gln182Lys) | |
17 | g.42787353C>G | CA399656494 | WNK4 | c.1552C>G (p.Gln518Glu) n.232C>G c.*53C>G (n.*53C>G) c.544C>G (p.Gln182Glu) | gnomAD v4 |
17 | g.42787353C>T | CA399656492 | WNK4 | c.1552C>T (p.Gln518Ter) n.232C>T c.*53C>T (n.*53C>T) c.544C>T (p.Gln182Ter) | |
17 | g.42787354A>C | CA399656500 | WNK4 | c.1553A>C (p.Gln518Pro) n.233A>C c.*54A>C (n.*54A>C) c.545A>C (p.Gln182Pro) | |
17 | g.42787354A>G | CA399656502 | WNK4 | c.1553A>G (p.Gln518Arg) n.233A>G c.*54A>G (n.*54A>G) c.545A>G (p.Gln182Arg) | |
17 | g.42787354A>T | CA399656505 | WNK4 | c.1553A>T (p.Gln518Leu) n.233A>T c.*54A>T (n.*54A>T) c.545A>T (p.Gln182Leu) | |
17 | g.42787355G>A | CA290785026 | WNK4 | c.1554G>A (p.Gln518=) n.234G>A c.*55G>A (n.*55G>A) c.546G>A (p.Gln182=) | dbSNP |
17 | g.42787355G>C | CA399656511 | WNK4 | c.1554G>C (p.Gln518His) n.234G>C c.*55G>C (n.*55G>C) c.546G>C (p.Gln182His) | |
17 | g.42787355G= | CA2260641854 | WNK4 | c.1554G= (p.Gln518=) n.234G= c.*55G= (n.*55G=) c.546G= (p.Gln182=) | |
17 | g.42787355G>T | CA399656513 | WNK4 | c.1554G>T (p.Gln518His) n.234G>T c.*55G>T (n.*55G>T) c.546G>T (p.Gln182His) | |
17 | g.42787356C>A | CA500225401 | WNK4 | c.1555C>A (p.Arg519=) n.235C>A c.*56C>A (n.*56C>A) c.547C>A (p.Arg183=) | |
17 | g.42787356C= | CA2260641855 | WNK4 | c.1555C= (p.Arg519=) n.235C= c.*56C= (n.*56C=) c.547C= (p.Arg183=) | |
17 | g.42787356C>G | CA399656517 | WNK4 | c.1555C>G (p.Arg519Gly) n.235C>G c.*56C>G (n.*56C>G) c.547C>G (p.Arg183Gly) | |
17 | g.42787356C>T | CA290785027 | WNK4 | c.1555C>T (p.Arg519Ter) n.235C>T c.*56C>T (n.*56C>T) c.547C>T (p.Arg183Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787357G>A | CA8584022 | WNK4 | c.1556G>A (p.Arg519Gln) n.236G>A c.*57G>A (n.*57G>A) c.548G>A (p.Arg183Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787357G>C | CA399656524 | WNK4 | c.1556G>C (p.Arg519Pro) n.236G>C c.*57G>C (n.*57G>C) c.548G>C (p.Arg183Pro) | |
17 | g.42787357G= | CA2260641856 | WNK4 | c.1556G= (p.Arg519=) n.236G= c.*57G= (n.*57G=) c.548G= (p.Arg183=) | |
17 | g.42787357G>T | CA399656527 | WNK4 | c.1556G>T (p.Arg519Leu) n.236G>T c.*57G>T (n.*57G>T) c.548G>T (p.Arg183Leu) | |
17 | g.42787358A= | CA2260641857 | WNK4 | c.1557A= (p.Arg519=) n.237A= c.*58A= (n.*58A=) c.549A= (p.Arg183=) | |
17 | g.42787358A>C | CA500225402 | WNK4 | c.1557A>C (p.Arg519=) n.237A>C c.*58A>C (n.*58A>C) c.549A>C (p.Arg183=) | |
17 | g.42787358A>G | CA8584023 | WNK4 | c.1557A>G (p.Arg519=) n.237A>G c.*58A>G (n.*58A>G) c.549A>G (p.Arg183=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42787358A>T | CA500225403 | WNK4 | c.1557A>T (p.Arg519=) n.237A>T c.*58A>T (n.*58A>T) c.549A>T (p.Arg183=) | |
17 | g.42787359A>C | CA399656541 | WNK4 | c.1558A>C (p.Lys520Gln) n.238A>C c.*59A>C (n.*59A>C) c.550A>C (p.Lys184Gln) | |
17 | g.42787359A>G | CA399656537 | WNK4 | c.1558A>G (p.Lys520Glu) n.238A>G c.*59A>G (n.*59A>G) c.550A>G (p.Lys184Glu) | |
17 | g.42787359A>T | CA399656534 | WNK4 | c.1558A>T (p.Lys520Ter) n.238A>T c.*59A>T (n.*59A>T) c.550A>T (p.Lys184Ter) | |
17 | g.42787360A>C | CA399656543 | WNK4 | c.1559A>C (p.Lys520Thr) n.239A>C c.*60A>C (n.*60A>C) c.551A>C (p.Lys184Thr) | |
17 | g.42787360A>G | CA399656549 | WNK4 | c.1559A>G (p.Lys520Arg) n.239A>G c.*60A>G (n.*60A>G) c.551A>G (p.Lys184Arg) | |
17 | g.42787360A>T | CA399656546 | WNK4 | c.1559A>T (p.Lys520Met) n.239A>T c.*60A>T (n.*60A>T) c.551A>T (p.Lys184Met) | |
17 | g.42787361G>A | CA500225404 | WNK4 | c.1560G>A (p.Lys520=) n.240G>A c.*61G>A (n.*61G>A) c.552G>A (p.Lys184=) | |
17 | g.42787361G>C | CA399656553 | WNK4 | c.1560G>C (p.Lys520Asn) n.240G>C c.*61G>C (n.*61G>C) c.552G>C (p.Lys184Asn) | |
17 | g.42787361G>T | CA399656556 | WNK4 | c.1560G>T (p.Lys520Asn) n.240G>T c.*61G>T (n.*61G>T) c.552G>T (p.Lys184Asn) | |
17 | g.42787362C>A | CA399656560 | WNK4 | c.1561C>A (p.Arg521Ser) n.241C>A c.*62C>A (n.*62C>A) c.553C>A (p.Arg185Ser) | |
17 | g.42787362C= | CA2260641858 | WNK4 | c.1561C= (p.Arg521=) n.241C= c.*62C= (n.*62C=) c.553C= (p.Arg185=) | |
17 | g.42787362C>G | CA399656564 | WNK4 | c.1561C>G (p.Arg521Gly) n.241C>G c.*62C>G (n.*62C>G) c.553C>G (p.Arg185Gly) | |
17 | g.42787362C>T | CA399656567 | WNK4 | c.1561C>T (p.Arg521Cys) n.241C>T c.*62C>T (n.*62C>T) c.553C>T (p.Arg185Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.42787363G>A | CA8584024 | WNK4 | c.1562G>A (p.Arg521His) n.242G>A c.*63G>A (n.*63G>A) c.554G>A (p.Arg185His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787363G>C | CA399656574 | WNK4 | c.1562G>C (p.Arg521Pro) n.242G>C c.*63G>C (n.*63G>C) c.554G>C (p.Arg185Pro) | |
17 | g.42787363G= | CA2260641859 | WNK4 | c.1562G= (p.Arg521=) n.242G= c.*63G= (n.*63G=) c.554G= (p.Arg185=) | |
17 | g.42787363G>T | CA399656577 | WNK4 | c.1562G>T (p.Arg521Leu) n.242G>T c.*63G>T (n.*63G>T) c.554G>T (p.Arg185Leu) | |
17 | g.42787364T>A | CA500225405 | WNK4 | c.1563T>A (p.Arg521=) n.243T>A c.*64T>A (n.*64T>A) c.555T>A (p.Arg185=) | gnomAD v4 |
17 | g.42787364T>C | CA500225406 | WNK4 | c.1563T>C (p.Arg521=) n.243T>C c.*64T>C (n.*64T>C) c.555T>C (p.Arg185=) | |
17 | g.42787364T>G | CA500225407 | WNK4 | c.1563T>G (p.Arg521=) n.243T>G c.*64T>G (n.*64T>G) c.555T>G (p.Arg185=) | |
17 | g.42787365G>A | CA399656580 | WNK4 | c.1564G>A (p.Glu522Lys) n.244G>A c.*65G>A (n.*65G>A) c.556G>A (p.Glu186Lys) | gnomAD v4 |
17 | g.42787365G>C | CA399656582 | WNK4 | c.1564G>C (p.Glu522Gln) n.244G>C c.*65G>C (n.*65G>C) c.556G>C (p.Glu186Gln) | |
17 | g.42787365G= | CA2260641860 | WNK4 | c.1564G= (p.Glu522=) n.244G= c.*65G= (n.*65G=) c.556G= (p.Glu186=) | |
17 | g.42787365G>T | CA8584025 | WNK4 | c.1564G>T (p.Glu522Ter) n.244G>T c.*65G>T (n.*65G>T) c.556G>T (p.Glu186Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42787366A>C | CA399656593 | WNK4 | c.1565A>C (p.Glu522Ala) n.245A>C c.*66A>C (n.*66A>C) c.557A>C (p.Glu186Ala) | |
17 | g.42787366A>G | CA399656590 | WNK4 | c.1565A>G (p.Glu522Gly) n.245A>G c.*66A>G (n.*66A>G) c.557A>G (p.Glu186Gly) | |
17 | g.42787366A>T | CA399656588 | WNK4 | c.1565A>T (p.Glu522Val) n.245A>T c.*66A>T (n.*66A>T) c.557A>T (p.Glu186Val) | |
17 | g.42787367G>A | CA500225408 | WNK4 | c.1566G>A (p.Glu522=) n.246G>A c.*67G>A (n.*67G>A) c.558G>A (p.Glu186=) | |
17 | g.42787367G>C | CA399656597 | WNK4 | c.1566G>C (p.Glu522Asp) n.246G>C c.*67G>C (n.*67G>C) c.558G>C (p.Glu186Asp) | dbSNP |
17 | g.42787367G= | CA2260641861 | WNK4 | c.1566G= (p.Glu522=) n.246G= c.*67G= (n.*67G=) c.558G= (p.Glu186=) | |
17 | g.42787367G>T | CA399656599 | WNK4 | c.1566G>T (p.Glu522Asp) n.246G>T c.*67G>T (n.*67G>T) c.558G>T (p.Glu186Asp) | |
17 | g.42787368A>C | CA399656603 | WNK4 | c.1567A>C (p.Lys523Gln) n.247A>C c.*68A>C (n.*68A>C) c.559A>C (p.Lys187Gln) | |
17 | g.42787368A>G | CA399656607 | WNK4 | c.1567A>G (p.Lys523Glu) n.247A>G c.*68A>G (n.*68A>G) c.559A>G (p.Lys187Glu) | |
17 | g.42787368A>T | CA399656609 | WNK4 | c.1567A>T (p.Lys523Ter) n.247A>T c.*68A>T (n.*68A>T) c.559A>T (p.Lys187Ter) | |
17 | g.42787369A>C | CA399656616 | WNK4 | c.1568A>C (p.Lys523Thr) n.248A>C c.*69A>C (n.*69A>C) c.560A>C (p.Lys187Thr) | |
17 | g.42787369A>G | CA399656618 | WNK4 | c.1568A>G (p.Lys523Arg) n.248A>G c.*69A>G (n.*69A>G) c.560A>G (p.Lys187Arg) | |
17 | g.42787369A>T | CA399656621 | WNK4 | c.1568A>T (p.Lys523Met) n.248A>T c.*69A>T (n.*69A>T) c.560A>T (p.Lys187Met) | |
17 | g.42787370G>A | CA500225409 | WNK4 | c.1569G>A (p.Lys523=) n.249G>A c.*70G>A (n.*70G>A) c.561G>A (p.Lys187=) | |
17 | g.42787370G>C | CA399656626 | WNK4 | c.1569G>C (p.Lys523Asn) n.249G>C c.*70G>C (n.*70G>C) c.561G>C (p.Lys187Asn) | |
17 | g.42787370G>T | CA399656629 | WNK4 | c.1569G>T (p.Lys523Asn) n.249G>T c.*70G>T (n.*70G>T) c.561G>T (p.Lys187Asn) | |
17 | g.42787371C>A | CA399656631 | WNK4 | c.1570C>A (p.Leu524Met) n.250C>A c.*71C>A (n.*71C>A) c.562C>A (p.Leu188Met) | |
17 | g.42787371C>G | CA399656632 | WNK4 | c.1570C>G (p.Leu524Val) n.250C>G c.*71C>G (n.*71C>G) c.562C>G (p.Leu188Val) | |
17 | g.42787371C>T | CA500225410 | WNK4 | c.1570C>T (p.Leu524=) n.250C>T c.*71C>T (n.*71C>T) c.562C>T (p.Leu188=) | |
17 | g.42787372T>A | CA399656636 | WNK4 | c.1571T>A (p.Leu524Gln) n.251T>A c.*72T>A (n.*72T>A) c.563T>A (p.Leu188Gln) | |
17 | g.42787372T>C | CA399656635 | WNK4 | c.1571T>C (p.Leu524Pro) n.251T>C c.*72T>C (n.*72T>C) c.563T>C (p.Leu188Pro) | |
17 | g.42787372T>G | CA399656633 | WNK4 | c.1571T>G (p.Leu524Arg) n.251T>G c.*72T>G (n.*72T>G) c.563T>G (p.Leu188Arg) | |
17 | g.42787373G>A | CA500225411 | WNK4 | c.1572G>A (p.Leu524=) n.252G>A c.*73G>A (n.*73G>A) c.564G>A (p.Leu188=) | |
17 | g.42787373G>C | CA500225412 | WNK4 | c.1572G>C (p.Leu524=) n.252G>C c.*73G>C (n.*73G>C) c.564G>C (p.Leu188=) | |
17 | g.42787373G= | CA2260641862 | WNK4 | c.1572G= (p.Leu524=) n.252G= c.*73G= (n.*73G=) c.564G= (p.Leu188=) | |
17 | g.42787373G>T | CA8584026 | WNK4 | c.1572G>T (p.Leu524=) n.252G>T c.*73G>T (n.*73G>T) c.564G>T (p.Leu188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787374C>A | CA399656639 | WNK4 | c.1573C>A (p.Arg525Ser) n.253C>A c.*74C>A (n.*74C>A) c.565C>A (p.Arg189Ser) | |
17 | g.42787374C= | CA2260641863 | WNK4 | c.1573C= (p.Arg525=) n.253C= c.*74C= (n.*74C=) c.565C= (p.Arg189=) | |
17 | g.42787374C>G | CA8584028 | WNK4 | c.1573C>G (p.Arg525Gly) n.253C>G c.*74C>G (n.*74C>G) c.565C>G (p.Arg189Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787374C>T | CA8584027 | WNK4 | c.1573C>T (p.Arg525Cys) n.253C>T c.*74C>T (n.*74C>T) c.565C>T (p.Arg189Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787375del | CA2576279495 | WNK4 | c.1574del (p.Arg525LeufsTer?) n.254del c.*75del (n.*75del) c.566del (p.Arg189LeufsTer?) | |
17 | g.42787375G>A | CA8584029 | WNK4 | c.1574G>A (p.Arg525His) n.254G>A c.*75G>A (n.*75G>A) c.566G>A (p.Arg189His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787375G>C | CA399656645 | WNK4 | c.1574G>C (p.Arg525Pro) n.254G>C c.*75G>C (n.*75G>C) c.566G>C (p.Arg189Pro) | gnomAD v4 |
17 | g.42787375G= | CA2260641864 | WNK4 | c.1574G= (p.Arg525=) n.254G= c.*75G= (n.*75G=) c.566G= (p.Arg189=) | |
17 | g.42787375G>T | CA399656647 | WNK4 | c.1574G>T (p.Arg525Leu) n.254G>T c.*75G>T (n.*75G>T) c.566G>T (p.Arg189Leu) | |
17 | g.42787376T>A | CA500225413 | WNK4 | c.1575T>A (p.Arg525=) n.255T>A c.*76T>A (n.*76T>A) c.567T>A (p.Arg189=) | |
17 | g.42787376T>C | CA500225415 | WNK4 | c.1575T>C (p.Arg525=) n.255T>C c.*76T>C (n.*76T>C) c.567T>C (p.Arg189=) | |
17 | g.42787376T>G | CA500225414 | WNK4 | c.1575T>G (p.Arg525=) n.255T>G c.*76T>G (n.*76T>G) c.567T>G (p.Arg189=) | |
17 | g.42787377A>C | CA399656653 | WNK4 | c.1576A>C (p.Lys526Gln) n.256A>C c.*77A>C (n.*77A>C) c.568A>C (p.Lys190Gln) | |
17 | g.42787377A>G | CA399656655 | WNK4 | c.1576A>G (p.Lys526Glu) n.256A>G c.*77A>G (n.*77A>G) c.568A>G (p.Lys190Glu) | |
17 | g.42787377A>T | CA399656657 | WNK4 | c.1576A>T (p.Lys526Ter) n.256A>T c.*77A>T (n.*77A>T) c.568A>T (p.Lys190Ter) | |
17 | g.42787378A>C | CA399656661 | WNK4 | c.1577A>C (p.Lys526Thr) n.257A>C c.*78A>C (n.*78A>C) c.569A>C (p.Lys190Thr) | |
17 | g.42787378A>G | CA399656662 | WNK4 | c.1577A>G (p.Lys526Arg) n.257A>G c.*78A>G (n.*78A>G) c.569A>G (p.Lys190Arg) | |
17 | g.42787378A>T | CA399656664 | WNK4 | c.1577A>T (p.Lys526Ile) n.257A>T c.*78A>T (n.*78A>T) c.569A>T (p.Lys190Ile) | |
17 | g.42787379A>C | CA399656668 | WNK4 | c.1578A>C (p.Lys526Asn) n.258A>C c.*79A>C (n.*79A>C) c.570A>C (p.Lys190Asn) | |
17 | g.42787379A>G | CA500225416 | WNK4 | c.1578A>G (p.Lys526=) n.258A>G c.*79A>G (n.*79A>G) c.570A>G (p.Lys190=) | |
17 | g.42787379A>T | CA399656666 | WNK4 | c.1578A>T (p.Lys526Asn) n.258A>T c.*79A>T (n.*79A>T) c.570A>T (p.Lys190Asn) | |
17 | g.42787380G>A | CA399656671 | WNK4 | c.1579G>A (p.Ala527Thr) n.259G>A c.*80G>A (n.*80G>A) c.571G>A (p.Ala191Thr) | dbSNP |
17 | g.42787380G>C | CA399656673 | WNK4 | c.1579G>C (p.Ala527Pro) n.259G>C c.*80G>C (n.*80G>C) c.571G>C (p.Ala191Pro) | |
17 | g.42787380G= | CA2260641865 | WNK4 | c.1579G= (p.Ala527=) n.259G= c.*80G= (n.*80G=) c.571G= (p.Ala191=) | |
17 | g.42787380G>T | CA399656675 | WNK4 | c.1579G>T (p.Ala527Ser) n.259G>T c.*80G>T (n.*80G>T) c.571G>T (p.Ala191Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787381C>A | CA399656679 | WNK4 | c.1580C>A (p.Ala527Glu) n.260C>A c.*81C>A (n.*81C>A) c.572C>A (p.Ala191Glu) | |
17 | g.42787381C>G | CA399656681 | WNK4 | c.1580C>G (p.Ala527Gly) n.260C>G c.*81C>G (n.*81C>G) c.572C>G (p.Ala191Gly) | gnomAD v4 |
17 | g.42787381C>T | CA399656683 | WNK4 | c.1580C>T (p.Ala527Val) n.260C>T c.*81C>T (n.*81C>T) c.572C>T (p.Ala191Val) | |
17 | g.42787382A>C | CA500225417 | WNK4 | c.1581A>C (p.Ala527=) n.261A>C c.*82A>C (n.*82A>C) c.573A>C (p.Ala191=) | |
17 | g.42787382A>G | CA500225418 | WNK4 | c.1581A>G (p.Ala527=) n.261A>G c.*82A>G (n.*82A>G) c.573A>G (p.Ala191=) | gnomAD v4 |
17 | g.42787382A>T | CA500225420 | WNK4 | c.1581A>T (p.Ala527=) n.261A>T c.*82A>T (n.*82A>T) c.573A>T (p.Ala191=) | |
17 | g.42787383A>C | CA500225423 | WNK4 | c.1582A>C (p.Arg528=) n.262A>C c.*83A>C (n.*83A>C) c.574A>C (p.Arg192=) | |
17 | g.42787383A>G | CA399656685 | WNK4 | c.1582A>G (p.Arg528Gly) n.262A>G c.*83A>G (n.*83A>G) c.574A>G (p.Arg192Gly) | |
17 | g.42787383A>T | CA399656686 | WNK4 | c.1582A>T (p.Arg528Trp) n.262A>T c.*83A>T (n.*83A>T) c.574A>T (p.Arg192Trp) | |
17 | g.42787384G>A | CA8584030 | WNK4 | c.1583G>A (p.Arg528Lys) n.263G>A c.*84G>A (n.*84G>A) c.575G>A (p.Arg192Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787384G>C | CA399656691 | WNK4 | c.1583G>C (p.Arg528Thr) n.263G>C c.*84G>C (n.*84G>C) c.575G>C (p.Arg192Thr) | |
17 | g.42787384G= | CA2260641866 | WNK4 | c.1583G= (p.Arg528=) n.263G= c.*84G= (n.*84G=) c.575G= (p.Arg192=) | |
17 | g.42787384G>T | CA399656693 | WNK4 | c.1583G>T (p.Arg528Met) n.263G>T c.*84G>T (n.*84G>T) c.575G>T (p.Arg192Met) | |
17 | g.42787385G>A | CA500225424 | WNK4 | c.1584G>A (p.Arg528=) n.264G>A c.*85G>A (n.*85G>A) c.576G>A (p.Arg192=) | |
17 | g.42787385G>C | CA399656695 | WNK4 | c.1584G>C (p.Arg528Ser) n.264G>C c.*85G>C (n.*85G>C) c.576G>C (p.Arg192Ser) | |
17 | g.42787385G>T | CA399656698 | WNK4 | c.1584G>T (p.Arg528Ser) n.264G>T c.*85G>T (n.*85G>T) c.576G>T (p.Arg192Ser) | |
17 | g.42787386G>A | CA8584031 | WNK4 | c.1585G>A (p.Glu529Lys) n.265G>A c.*86G>A (n.*86G>A) c.577G>A (p.Glu193Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42787386G>C | CA399656704 | WNK4 | c.1585G>C (p.Glu529Gln) n.265G>C c.*86G>C (n.*86G>C) c.577G>C (p.Glu193Gln) | |
17 | g.42787386G= | CA2260641867 | WNK4 | c.1585G= (p.Glu529=) n.265G= c.*86G= (n.*86G=) c.577G= (p.Glu193=) | |
17 | g.42787386G>T | CA399656702 | WNK4 | c.1585G>T (p.Glu529Ter) n.265G>T c.*86G>T (n.*86G>T) c.577G>T (p.Glu193Ter) | |
17 | g.42787387A>C | CA399656708 | WNK4 | c.1586A>C (p.Glu529Ala) n.266A>C c.*87A>C (n.*87A>C) c.578A>C (p.Glu193Ala) | |
17 | g.42787387A>G | CA399656710 | WNK4 | c.1586A>G (p.Glu529Gly) n.266A>G c.*87A>G (n.*87A>G) c.578A>G (p.Glu193Gly) | |
17 | g.42787387A>T | CA399656709 | WNK4 | c.1586A>T (p.Glu529Val) n.266A>T c.*87A>T (n.*87A>T) c.578A>T (p.Glu193Val) | |
17 | g.42787388A>C | CA399656712 | WNK4 | c.1587A>C (p.Glu529Asp) n.267A>C c.*88A>C (n.*88A>C) c.579A>C (p.Glu193Asp) | |
17 | g.42787388A>G | CA500225428 | WNK4 | c.1587A>G (p.Glu529=) n.267A>G c.*88A>G (n.*88A>G) c.579A>G (p.Glu193=) | |
17 | g.42787388A>T | CA399656714 | WNK4 | c.1587A>T (p.Glu529Asp) n.267A>T c.*88A>T (n.*88A>T) c.579A>T (p.Glu193Asp) | |
17 | g.42787389T>A | CA399656715 | WNK4 | c.1588T>A (p.Leu530Met) n.268T>A c.*89T>A (n.*89T>A) c.580T>A (p.Leu194Met) | |
17 | g.42787389T>C | CA500225433 | WNK4 | c.1588T>C (p.Leu530=) n.268T>C c.*89T>C (n.*89T>C) c.580T>C (p.Leu194=) | gnomAD v4 |
17 | g.42787389T>G | CA399656717 | WNK4 | c.1588T>G (p.Leu530Val) n.268T>G c.*89T>G (n.*89T>G) c.580T>G (p.Leu194Val) | |
17 | g.42787390T>A | CA399656724 | WNK4 | c.1589T>A (p.Leu530Ter) n.269T>A c.*90T>A (n.*90T>A) c.581T>A (p.Leu194Ter) | |
17 | g.42787390T>C | CA399656727 | WNK4 | c.1589T>C (p.Leu530Ser) n.269T>C c.*90T>C (n.*90T>C) c.581T>C (p.Leu194Ser) | |
17 | g.42787390T>G | CA399656730 | WNK4 | c.1589T>G (p.Leu530Trp) n.269T>G c.*90T>G (n.*90T>G) c.581T>G (p.Leu194Trp) | |
17 | g.42787391G>A | CA8584032 | WNK4 | c.1590G>A (p.Leu530=) n.270G>A c.*91G>A (n.*91G>A) c.582G>A (p.Leu194=) | dbSNP ExAC gnomAD v2 |
17 | g.42787391G>C | CA399656732 | WNK4 | c.1590G>C (p.Leu530Phe) n.270G>C c.*91G>C (n.*91G>C) c.582G>C (p.Leu194Phe) | |
17 | g.42787391G= | CA2260641868 | WNK4 | c.1590G= (p.Leu530=) n.270G= c.*91G= (n.*91G=) c.582G= (p.Leu194=) | |
17 | g.42787391G>T | CA399656735 | WNK4 | c.1590G>T (p.Leu530Phe) n.270G>T c.*91G>T (n.*91G>T) c.582G>T (p.Leu194Phe) | |
17 | g.42787392G>A | CA399656742 | WNK4 | c.1591G>A (p.Glu531Lys) n.271G>A c.*92G>A (n.*92G>A) c.583G>A (p.Glu195Lys) | |
17 | g.42787392G>C | CA399656745 | WNK4 | c.1591G>C (p.Glu531Gln) n.271G>C c.*92G>C (n.*92G>C) c.583G>C (p.Glu195Gln) | |
17 | g.42787392G>T | CA399656746 | WNK4 | c.1591G>T (p.Glu531Ter) n.271G>T c.*92G>T (n.*92G>T) c.583G>T (p.Glu195Ter) | |
17 | g.42787393A>C | CA399656747 | WNK4 | c.1592A>C (p.Glu531Ala) n.272A>C c.*93A>C (n.*93A>C) c.584A>C (p.Glu195Ala) | |
17 | g.42787393A>G | CA399656750 | WNK4 | c.1592A>G (p.Glu531Gly) n.272A>G c.*93A>G (n.*93A>G) c.584A>G (p.Glu195Gly) | gnomAD v4 |
17 | g.42787393A>T | CA399656752 | WNK4 | c.1592A>T (p.Glu531Val) n.272A>T c.*93A>T (n.*93A>T) c.584A>T (p.Glu195Val) | |
17 | g.42787394G>A | CA8584033 | WNK4 | c.1593G>A (p.Glu531=) n.273G>A c.*94G>A (n.*94G>A) c.585G>A (p.Glu195=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787394G>C | CA399656761 | WNK4 | c.1593G>C (p.Glu531Asp) n.273G>C c.*94G>C (n.*94G>C) c.585G>C (p.Glu195Asp) | |
17 | g.42787394G= | CA2260641869 | WNK4 | c.1593G= (p.Glu531=) n.273G= c.*94G= (n.*94G=) c.585G= (p.Glu195=) | |
17 | g.42787394G>T | CA399656759 | WNK4 | c.1593G>T (p.Glu531Asp) n.273G>T c.*94G>T (n.*94G>T) c.585G>T (p.Glu195Asp) | |
17 | g.42787395G>A | CA399656766 | WNK4 | c.1594G>A (p.Ala532Thr) n.274G>A c.*95G>A (n.*95G>A) c.586G>A (p.Ala196Thr) | |
17 | g.42787395G>C | CA399656768 | WNK4 | c.1594G>C (p.Ala532Pro) n.274G>C c.*95G>C (n.*95G>C) c.586G>C (p.Ala196Pro) | |
17 | g.42787395G= | CA2260641870 | WNK4 | c.1594G= (p.Ala532=) n.274G= c.*95G= (n.*95G=) c.586G= (p.Ala196=) | |
17 | g.42787395G>T | CA399656771 | WNK4 | c.1594G>T (p.Ala532Ser) n.274G>T c.*95G>T (n.*95G>T) c.586G>T (p.Ala196Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787396C>A | CA399656773 | WNK4 | c.1595C>A (p.Ala532Glu) n.275C>A c.*96C>A (n.*96C>A) c.587C>A (p.Ala196Glu) | |
17 | g.42787396C= | CA2260641871 | WNK4 | c.1595C= (p.Ala532=) n.275C= c.*96C= (n.*96C=) c.587C= (p.Ala196=) | |
17 | g.42787396C>G | CA399656775 | WNK4 | c.1595C>G (p.Ala532Gly) n.275C>G c.*96C>G (n.*96C>G) c.587C>G (p.Ala196Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787396C>T | CA399656778 | WNK4 | c.1595C>T (p.Ala532Val) n.275C>T c.*96C>T (n.*96C>T) c.587C>T (p.Ala196Val) | |
17 | g.42787397A>C | CA500225445 | WNK4 | c.1596A>C (p.Ala532=) n.276A>C c.*97A>C (n.*97A>C) c.588A>C (p.Ala196=) | gnomAD v3 gnomAD v4 |
17 | g.42787397A>G | CA500225447 | WNK4 | c.1596A>G (p.Ala532=) n.276A>G c.*97A>G (n.*97A>G) c.588A>G (p.Ala196=) | |
17 | g.42787397A>T | CA500225449 | WNK4 | c.1596A>T (p.Ala532=) n.276A>T c.*97A>T (n.*97A>T) c.588A>T (p.Ala196=) | |
17 | g.42787398C>A | CA399656783 | WNK4 | c.1597C>A (p.Leu533Ile) n.277C>A c.*98C>A (n.*98C>A) c.589C>A (p.Leu197Ile) | |
17 | g.42787398C= | CA2260641872 | WNK4 | c.1597C= (p.Leu533=) n.277C= c.*98C= (n.*98C=) c.589C= (p.Leu197=) | |
17 | g.42787398C>G | CA399656784 | WNK4 | c.1597C>G (p.Leu533Val) n.277C>G c.*98C>G (n.*98C>G) c.589C>G (p.Leu197Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787398C>T | CA399656786 | WNK4 | c.1597C>T (p.Leu533Phe) n.277C>T c.*98C>T (n.*98C>T) c.589C>T (p.Leu197Phe) | |
17 | g.42787399T>A | CA399656791 | WNK4 | c.1598T>A (p.Leu533His) n.278T>A c.*99T>A (n.*99T>A) c.590T>A (p.Leu197His) | |
17 | g.42787399T>C | CA290785064 | WNK4 | c.1598T>C (p.Leu533Pro) n.278T>C c.*99T>C (n.*99T>C) c.590T>C (p.Leu197Pro) | dbSNP gnomAD v4 |
17 | g.42787399T>G | CA399656801 | WNK4 | c.1598T>G (p.Leu533Arg) n.278T>G c.*99T>G (n.*99T>G) c.590T>G (p.Leu197Arg) | |
17 | g.42787399T= | CA2260641873 | WNK4 | c.1598T= (p.Leu533=) n.278T= c.*99T= (n.*99T=) c.590T= (p.Leu197=) | |
17 | g.42787400C>A | CA500225450 | WNK4 | c.1599C>A (p.Leu533=) n.279C>A c.*100C>A (n.*100C>A) c.591C>A (p.Leu197=) | |
17 | g.42787400C>G | CA500225452 | WNK4 | c.1599C>G (p.Leu533=) n.279C>G c.*100C>G (n.*100C>G) c.591C>G (p.Leu197=) | |
17 | g.42787400C>T | CA500225451 | WNK4 | c.1599C>T (p.Leu533=) n.279C>T c.*100C>T (n.*100C>T) c.591C>T (p.Leu197=) | COSMIC COSMIC |
17 | g.42787401C>A | CA399656810 | WNK4 | c.1600C>A (p.Pro534Thr) n.280C>A c.*101C>A (n.*101C>A) c.592C>A (p.Pro198Thr) | |
17 | g.42787401C>G | CA399656808 | WNK4 | c.1600C>G (p.Pro534Ala) n.280C>G c.*101C>G (n.*101C>G) c.592C>G (p.Pro198Ala) | |
17 | g.42787401C>T | CA399656809 | WNK4 | c.1600C>T (p.Pro534Ser) n.280C>T c.*101C>T (n.*101C>T) c.592C>T (p.Pro198Ser) | |
17 | g.42787402C>A | CA399656811 | WNK4 | c.1601C>A (p.Pro534Gln) n.281C>A c.*102C>A (n.*102C>A) c.593C>A (p.Pro198Gln) | |
17 | g.42787402C>G | CA399656813 | WNK4 | c.1601C>G (p.Pro534Arg) n.281C>G c.*102C>G (n.*102C>G) c.593C>G (p.Pro198Arg) | |
17 | g.42787402C>T | CA399656812 | WNK4 | c.1601C>T (p.Pro534Leu) n.281C>T c.*102C>T (n.*102C>T) c.593C>T (p.Pro198Leu) | gnomAD v4 |
17 | g.42787403A>C | CA500225459 | WNK4 | c.1602A>C (p.Pro534=) n.282A>C c.*103A>C (n.*103A>C) c.594A>C (p.Pro198=) | |
17 | g.42787403A>G | CA500225457 | WNK4 | c.1602A>G (p.Pro534=) n.282A>G c.*103A>G (n.*103A>G) c.594A>G (p.Pro198=) | gnomAD v4 |
17 | g.42787403A>T | CA500225458 | WNK4 | c.1602A>T (p.Pro534=) n.282A>T c.*103A>T (n.*103A>T) c.594A>T (p.Pro198=) | |
17 | g.42787404C>A | CA399656814 | WNK4 | c.1603C>A (p.Pro535Thr) n.283C>A c.*104C>A (n.*104C>A) c.595C>A (p.Pro199Thr) | |
17 | g.42787404C= | CA2260641874 | WNK4 | c.1603C= (p.Pro535=) n.283C= c.*104C= (n.*104C=) c.595C= (p.Pro199=) | |
17 | g.42787404C>G | CA399656822 | WNK4 | c.1603C>G (p.Pro535Ala) n.283C>G c.*104C>G (n.*104C>G) c.595C>G (p.Pro199Ala) | gnomAD v4 |
17 | g.42787404C>T | CA290785066 | WNK4 | c.1603C>T (p.Pro535Ser) n.283C>T c.*104C>T (n.*104C>T) c.595C>T (p.Pro199Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787405C>A | CA399656836 | WNK4 | c.1604C>A (p.Pro535Gln) n.284C>A c.*105C>A (n.*105C>A) c.596C>A (p.Pro199Gln) | |
17 | g.42787405C>G | CA399656838 | WNK4 | c.1604C>G (p.Pro535Arg) n.284C>G c.*105C>G (n.*105C>G) c.596C>G (p.Pro199Arg) | |
17 | g.42787405C>T | CA399656842 | WNK4 | c.1604C>T (p.Pro535Leu) n.284C>T c.*105C>T (n.*105C>T) c.596C>T (p.Pro199Leu) | |
17 | g.42787406A>C | CA500225460 | WNK4 | c.1605A>C (p.Pro535=) n.285A>C c.*106A>C (n.*106A>C) c.597A>C (p.Pro199=) | |
17 | g.42787406A>G | CA500225462 | WNK4 | c.1605A>G (p.Pro535=) n.285A>G c.*106A>G (n.*106A>G) c.597A>G (p.Pro199=) | |
17 | g.42787406A>T | CA500225463 | WNK4 | c.1605A>T (p.Pro535=) n.285A>T c.*106A>T (n.*106A>T) c.597A>T (p.Pro199=) | |
17 | g.42787407G>A | CA399656846 | WNK4 | c.1606G>A (p.Glu536Lys) n.286G>A c.*107G>A (n.*107G>A) c.598G>A (p.Glu200Lys) | gnomAD v4 |
17 | g.42787407G>C | CA399656849 | WNK4 | c.1606G>C (p.Glu536Gln) n.286G>C c.*107G>C (n.*107G>C) c.598G>C (p.Glu200Gln) | gnomAD v4 |
17 | g.42787407G>T | CA399656851 | WNK4 | c.1606G>T (p.Glu536Ter) n.286G>T c.*107G>T (n.*107G>T) c.598G>T (p.Glu200Ter) | |
17 | g.42787408A= | CA2260641875 | WNK4 | c.1607A= (p.Glu536=) n.287A= c.*108A= (n.*108A=) c.599A= (p.Glu200=) | |
17 | g.42787408A>C | CA399656854 | WNK4 | c.1607A>C (p.Glu536Ala) n.287A>C c.*108A>C (n.*108A>C) c.599A>C (p.Glu200Ala) | |
17 | g.42787408A>G | CA399656855 | WNK4 | c.1607A>G (p.Glu536Gly) n.287A>G c.*108A>G (n.*108A>G) c.599A>G (p.Glu200Gly) | |
17 | g.42787408A>T | CA399656856 | WNK4 | c.1607A>T (p.Glu536Val) n.287A>T c.*108A>T (n.*108A>T) c.599A>T (p.Glu200Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787409G>A | CA500225464 | WNK4 | c.1608G>A (p.Glu536=) n.288G>A c.*109G>A (n.*109G>A) c.600G>A (p.Glu200=) | gnomAD v4 |
17 | g.42787409G>C | CA399656858 | WNK4 | c.1608G>C (p.Glu536Asp) n.288G>C c.*109G>C (n.*109G>C) c.600G>C (p.Glu200Asp) | |
17 | g.42787409G>T | CA399656860 | WNK4 | c.1608G>T (p.Glu536Asp) n.288G>T c.*109G>T (n.*109G>T) c.600G>T (p.Glu200Asp) |