Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42543874_42543875dup | CA645588249 | NAGLU | c.1868_1869dup (p.Gln624SerfsTer24) c.1206_1207dup (n.1206_1207dup) c.1037_1038dup (p.Gln347SerfsTer24) c.869_870dup (p.Gln291SerfsTer24) c.1925_1926dup (p.Gln643SerfsTer24) | COSMIC |
17 | g.42543874A>C | CA399605250 | NAGLU | c.1868A>C (p.Glu623Ala) c.1206A>C (n.1206A>C) c.1037A>C (p.Glu346Ala) c.869A>C (p.Glu290Ala) c.1925A>C (p.Glu642Ala) | |
17 | g.42543874A>G | CA399605252 | NAGLU | c.1868A>G (p.Glu623Gly) c.1206A>G (n.1206A>G) c.1037A>G (p.Glu346Gly) c.869A>G (p.Glu290Gly) c.1925A>G (p.Glu642Gly) | gnomAD v4 |
17 | g.42543874A>T | CA399605255 | NAGLU | c.1868A>T (p.Glu623Val) c.1206A>T (n.1206A>T) c.1037A>T (p.Glu346Val) c.869A>T (p.Glu290Val) c.1925A>T (p.Glu642Val) | |
17 | g.42543875G>A | CA500218184 | NAGLU | c.1869G>A (p.Glu623=) c.1207G>A (n.1207G>A) c.1038G>A (p.Glu346=) c.870G>A (p.Glu290=) c.1926G>A (p.Glu642=) | ClinVar gnomAD v4 |
17 | g.42543875G>C | CA399605258 | NAGLU | c.1869G>C (p.Glu623Asp) c.1207G>C (n.1207G>C) c.1038G>C (p.Glu346Asp) c.870G>C (p.Glu290Asp) c.1926G>C (p.Glu642Asp) | |
17 | g.42543875G>T | CA399605261 | NAGLU | c.1869G>T (p.Glu623Asp) c.1207G>T (n.1207G>T) c.1038G>T (p.Glu346Asp) c.870G>T (p.Glu290Asp) c.1926G>T (p.Glu642Asp) | gnomAD v4 |
17 | g.42543876C>A | CA399605266 | NAGLU | c.1870C>A (p.Gln624Lys) c.1208C>A (n.1208C>A) c.1039C>A (p.Gln347Lys) c.871C>A (p.Gln291Lys) c.1927C>A (p.Gln643Lys) | gnomAD v4 |
17 | g.42543876C>G | CA399605269 | NAGLU | c.1870C>G (p.Gln624Glu) c.1208C>G (n.1208C>G) c.1039C>G (p.Gln347Glu) c.871C>G (p.Gln291Glu) c.1927C>G (p.Gln643Glu) | |
17 | g.42543876C>T | CA399605272 | NAGLU | c.1870C>T (p.Gln624Ter) c.1208C>T (n.1208C>T) c.1039C>T (p.Gln347Ter) c.871C>T (p.Gln291Ter) c.1927C>T (p.Gln643Ter) | gnomAD v4 |
17 | g.42543877A>C | CA399605276 | NAGLU | c.1871A>C (p.Gln624Pro) c.1209A>C (n.1209A>C) c.1040A>C (p.Gln347Pro) c.872A>C (p.Gln291Pro) c.1928A>C (p.Gln643Pro) | |
17 | g.42543877A>G | CA399605279 | NAGLU | c.1871A>G (p.Gln624Arg) c.1209A>G (n.1209A>G) c.1040A>G (p.Gln347Arg) c.872A>G (p.Gln291Arg) c.1928A>G (p.Gln643Arg) | |
17 | g.42543877A>T | CA399605282 | NAGLU | c.1871A>T (p.Gln624Leu) c.1209A>T (n.1209A>T) c.1040A>T (p.Gln347Leu) c.872A>T (p.Gln291Leu) c.1928A>T (p.Gln643Leu) | gnomAD v4 |
17 | g.42543878G>A | CA500218233 | NAGLU | c.1872G>A (p.Gln624=) c.1210G>A (n.1210G>A) c.1041G>A (p.Gln347=) c.873G>A (p.Gln291=) c.1929G>A (p.Gln643=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543878G>C | CA399605288 | NAGLU | c.1872G>C (p.Gln624His) c.1210G>C (n.1210G>C) c.1041G>C (p.Gln347His) c.873G>C (p.Gln291His) c.1929G>C (p.Gln643His) | |
17 | g.42543878G= | CA2260530493 | NAGLU | c.1872G= (p.Gln624=) c.1210G= (n.1210G=) c.1041G= (p.Gln347=) c.873G= (p.Gln291=) c.1929G= (p.Gln643=) | |
17 | g.42543878G>T | CA399605286 | NAGLU | c.1872G>T (p.Gln624His) c.1210G>T (n.1210G>T) c.1041G>T (p.Gln347His) c.873G>T (p.Gln291His) c.1929G>T (p.Gln643His) | |
17 | g.42543879G>A | CA399605293 | NAGLU | c.1873G>A (p.Ala625Thr) c.1211G>A (n.1211G>A) c.1042G>A (p.Ala348Thr) c.874G>A (p.Ala292Thr) c.1930G>A (p.Ala644Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543879G>C | CA399605296 | NAGLU | c.1873G>C (p.Ala625Pro) c.1211G>C (n.1211G>C) c.1042G>C (p.Ala348Pro) c.874G>C (p.Ala292Pro) c.1930G>C (p.Ala644Pro) | gnomAD v4 |
17 | g.42543879G= | CA2260530494 | NAGLU | c.1873G= (p.Ala625=) c.1211G= (n.1211G=) c.1042G= (p.Ala348=) c.874G= (p.Ala292=) c.1930G= (p.Ala644=) | |
17 | g.42543879G>T | CA399605300 | NAGLU | c.1873G>T (p.Ala625Ser) c.1211G>T (n.1211G>T) c.1042G>T (p.Ala348Ser) c.874G>T (p.Ala292Ser) c.1930G>T (p.Ala644Ser) | |
17 | g.42543880C>A | CA399605304 | NAGLU | c.1874C>A (p.Ala625Asp) c.1212C>A (n.1212C>A) c.1043C>A (p.Ala348Asp) c.875C>A (p.Ala292Asp) c.1931C>A (p.Ala644Asp) | gnomAD v4 |
17 | g.42543880C>G | CA399605307 | NAGLU | c.1874C>G (p.Ala625Gly) c.1212C>G (n.1212C>G) c.1043C>G (p.Ala348Gly) c.875C>G (p.Ala292Gly) c.1931C>G (p.Ala644Gly) | |
17 | g.42543880C>T | CA399605309 | NAGLU | c.1874C>T (p.Ala625Val) c.1212C>T (n.1212C>T) c.1043C>T (p.Ala348Val) c.875C>T (p.Ala292Val) c.1931C>T (p.Ala644Val) | gnomAD v4 |
17 | g.42543881C>A | CA500218272 | NAGLU | c.1875C>A (p.Ala625=) c.1213C>A (n.1213C>A) c.1044C>A (p.Ala348=) c.876C>A (p.Ala292=) c.1932C>A (p.Ala644=) | |
17 | g.42543881C>G | CA500218271 | NAGLU | c.1875C>G (p.Ala625=) c.1213C>G (n.1213C>G) c.1044C>G (p.Ala348=) c.876C>G (p.Ala292=) c.1932C>G (p.Ala644=) | |
17 | g.42543881C>T | CA500218273 | NAGLU | c.1875C>T (p.Ala625=) c.1213C>T (n.1213C>T) c.1044C>T (p.Ala348=) c.876C>T (p.Ala292=) c.1932C>T (p.Ala644=) | |
17 | g.42543882C>A | CA500218278 | NAGLU | c.1876C>A (p.Arg626=) c.1214C>A (n.1214C>A) c.1045C>A (p.Arg349=) c.877C>A (p.Arg293=) c.1933C>A (p.Arg645=) | gnomAD v4 |
17 | g.42543882C= | CA2260530495 | NAGLU | c.1876C= (p.Arg626=) c.1214C= (n.1214C=) c.1045C= (p.Arg349=) c.877C= (p.Arg293=) c.1933C= (p.Arg645=) | |
17 | g.42543882C>G | CA8577109 | NAGLU | c.1876C>G (p.Arg626Gly) c.1214C>G (n.1214C>G) c.1045C>G (p.Arg349Gly) c.877C>G (p.Arg293Gly) c.1933C>G (p.Arg645Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543882C>T | CA115043 | NAGLU | c.1876C>T (p.Arg626Ter) c.1214C>T (n.1214C>T) c.1045C>T (p.Arg349Ter) c.877C>T (p.Arg293Ter) c.1933C>T (p.Arg645Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543883G>A | CA8577110 | NAGLU | c.1877G>A (p.Arg626Gln) c.1215G>A (n.1215G>A) c.1046G>A (p.Arg349Gln) c.878G>A (p.Arg293Gln) c.1934G>A (p.Arg645Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543883G>C | CA399605319 | NAGLU | c.1877G>C (p.Arg626Pro) c.1215G>C (n.1215G>C) c.1046G>C (p.Arg349Pro) c.878G>C (p.Arg293Pro) c.1934G>C (p.Arg645Pro) | |
17 | g.42543883G= | CA2260530496 | NAGLU | c.1877G= (p.Arg626=) c.1215G= (n.1215G=) c.1046G= (p.Arg349=) c.878G= (p.Arg293=) c.1934G= (p.Arg645=) | |
17 | g.42543883G>T | CA399605322 | NAGLU | c.1877G>T (p.Arg626Leu) c.1215G>T (n.1215G>T) c.1046G>T (p.Arg349Leu) c.878G>T (p.Arg293Leu) c.1934G>T (p.Arg645Leu) | dbSNP gnomAD v4 |
17 | g.42543884A= | CA2260530497 | NAGLU | c.1878A= (p.Arg626=) c.1216A= (n.1216A=) c.1047A= (p.Arg349=) c.879A= (p.Arg293=) c.1935A= (p.Arg645=) | |
17 | g.42543884A>C | CA500218291 | NAGLU | c.1878A>C (p.Arg626=) c.1216A>C (n.1216A>C) c.1047A>C (p.Arg349=) c.879A>C (p.Arg293=) c.1935A>C (p.Arg645=) | |
17 | g.42543884A>G | CA500218296 | NAGLU | c.1878A>G (p.Arg626=) c.1216A>G (n.1216A>G) c.1047A>G (p.Arg349=) c.879A>G (p.Arg293=) c.1935A>G (p.Arg645=) | dbSNP gnomAD v2 |
17 | g.42543884A>T | CA500218294 | NAGLU | c.1878A>T (p.Arg626=) c.1216A>T (n.1216A>T) c.1047A>T (p.Arg349=) c.879A>T (p.Arg293=) c.1935A>T (p.Arg645=) | |
17 | g.42543885G>A | CA399605325 | NAGLU | c.1879G>A (p.Ala627Thr) c.1217G>A (n.1217G>A) c.1048G>A (p.Ala350Thr) c.880G>A (p.Ala294Thr) c.1936G>A (p.Ala646Thr) | ClinVar |
17 | g.42543885G>C | CA399605327 | NAGLU | c.1879G>C (p.Ala627Pro) c.1217G>C (n.1217G>C) c.1048G>C (p.Ala350Pro) c.880G>C (p.Ala294Pro) c.1936G>C (p.Ala646Pro) | |
17 | g.42543885G>T | CA399605330 | NAGLU | c.1879G>T (p.Ala627Ser) c.1217G>T (n.1217G>T) c.1048G>T (p.Ala350Ser) c.880G>T (p.Ala294Ser) c.1936G>T (p.Ala646Ser) | |
17 | g.42543886C>A | CA399605337 | NAGLU | c.1880C>A (p.Ala627Glu) c.1218C>A (n.1218C>A) c.1049C>A (p.Ala350Glu) c.881C>A (p.Ala294Glu) c.1937C>A (p.Ala646Glu) | |
17 | g.42543886C= | CA2260530498 | NAGLU | c.1880C= (p.Ala627=) c.1218C= (n.1218C=) c.1049C= (p.Ala350=) c.881C= (p.Ala294=) c.1937C= (p.Ala646=) | |
17 | g.42543886C>G | CA399605333 | NAGLU | c.1880C>G (p.Ala627Gly) c.1218C>G (n.1218C>G) c.1049C>G (p.Ala350Gly) c.881C>G (p.Ala294Gly) c.1937C>G (p.Ala646Gly) | |
17 | g.42543886C>T | CA8577111 | NAGLU | c.1880C>T (p.Ala627Val) c.1218C>T (n.1218C>T) c.1049C>T (p.Ala350Val) c.881C>T (p.Ala294Val) c.1937C>T (p.Ala646Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543887A>C | CA500218307 | NAGLU | c.1881A>C (p.Ala627=) c.1219A>C (n.1219A>C) c.1050A>C (p.Ala350=) c.882A>C (p.Ala294=) c.1938A>C (p.Ala646=) | |
17 | g.42543887A>G | CA500218308 | NAGLU | c.1881A>G (p.Ala627=) c.1219A>G (n.1219A>G) c.1050A>G (p.Ala350=) c.882A>G (p.Ala294=) c.1938A>G (p.Ala646=) | ClinVar dbSNP gnomAD v4 |
17 | g.42543887A>T | CA500218309 | NAGLU | c.1881A>T (p.Ala627=) c.1219A>T (n.1219A>T) c.1050A>T (p.Ala350=) c.882A>T (p.Ala294=) c.1938A>T (p.Ala646=) | |
17 | g.42543888G>A | CA399605340 | NAGLU | c.1882G>A (p.Ala628Thr) c.1220G>A (n.1220G>A) c.1051G>A (p.Ala351Thr) c.883G>A (p.Ala295Thr) c.1939G>A (p.Ala647Thr) | |
17 | g.42543888G>C | CA399605342 | NAGLU | c.1882G>C (p.Ala628Pro) c.1220G>C (n.1220G>C) c.1051G>C (p.Ala351Pro) c.883G>C (p.Ala295Pro) c.1939G>C (p.Ala647Pro) | |
17 | g.42543888G>T | CA399605344 | NAGLU | c.1882G>T (p.Ala628Ser) c.1220G>T (n.1220G>T) c.1051G>T (p.Ala351Ser) c.883G>T (p.Ala295Ser) c.1939G>T (p.Ala647Ser) | gnomAD v4 |
17 | g.42543889C>A | CA399605348 | NAGLU | c.1883C>A (p.Ala628Glu) c.1221C>A (n.1221C>A) c.1052C>A (p.Ala351Glu) c.884C>A (p.Ala295Glu) c.1940C>A (p.Ala647Glu) | gnomAD v4 |
17 | g.42543889C= | CA2260530499 | NAGLU | c.1883C= (p.Ala628=) c.1221C= (n.1221C=) c.1052C= (p.Ala351=) c.884C= (p.Ala295=) c.1940C= (p.Ala647=) | |
17 | g.42543889C>G | CA399605351 | NAGLU | c.1883C>G (p.Ala628Gly) c.1221C>G (n.1221C>G) c.1052C>G (p.Ala351Gly) c.884C>G (p.Ala295Gly) c.1940C>G (p.Ala647Gly) | |
17 | g.42543889C>T | CA8577112 | NAGLU | c.1883C>T (p.Ala628Val) c.1221C>T (n.1221C>T) c.1052C>T (p.Ala351Val) c.884C>T (p.Ala295Val) c.1940C>T (p.Ala647Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543890G>A | CA8577113 | NAGLU | c.1884G>A (p.Ala628=) c.1222G>A (n.1222G>A) c.1053G>A (p.Ala351=) c.885G>A (p.Ala295=) c.1941G>A (p.Ala647=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543890G>C | CA500218321 | NAGLU | c.1884G>C (p.Ala628=) c.1222G>C (n.1222G>C) c.1053G>C (p.Ala351=) c.885G>C (p.Ala295=) c.1941G>C (p.Ala647=) | |
17 | g.42543890G= | CA2260530500 | NAGLU | c.1884G= (p.Ala628=) c.1222G= (n.1222G=) c.1053G= (p.Ala351=) c.885G= (p.Ala295=) c.1941G= (p.Ala647=) | |
17 | g.42543890G>T | CA500218319 | NAGLU | c.1884G>T (p.Ala628=) c.1222G>T (n.1222G>T) c.1053G>T (p.Ala351=) c.885G>T (p.Ala295=) c.1941G>T (p.Ala647=) | gnomAD v4 |
17 | g.42543891G>A | CA399605358 | NAGLU | c.1885G>A (p.Ala629Thr) c.1223G>A (n.1223G>A) c.1054G>A (p.Ala352Thr) c.886G>A (p.Ala296Thr) c.1942G>A (p.Ala648Thr) | gnomAD v4 |
17 | g.42543891G>C | CA399605361 | NAGLU | c.1885G>C (p.Ala629Pro) c.1223G>C (n.1223G>C) c.1054G>C (p.Ala352Pro) c.886G>C (p.Ala296Pro) c.1942G>C (p.Ala648Pro) | |
17 | g.42543891G>T | CA399605364 | NAGLU | c.1885G>T (p.Ala629Ser) c.1223G>T (n.1223G>T) c.1054G>T (p.Ala352Ser) c.886G>T (p.Ala296Ser) c.1942G>T (p.Ala648Ser) | |
17 | g.42543892C>A | CA399605367 | NAGLU | c.1886C>A (p.Ala629Glu) c.1224C>A (n.1224C>A) c.1055C>A (p.Ala352Glu) c.887C>A (p.Ala296Glu) c.1943C>A (p.Ala648Glu) | gnomAD v4 |
17 | g.42543892C= | CA2260530501 | NAGLU | c.1886C= (p.Ala629=) c.1224C= (n.1224C=) c.1055C= (p.Ala352=) c.887C= (p.Ala296=) c.1943C= (p.Ala648=) | |
17 | g.42543892C>G | CA399605370 | NAGLU | c.1886C>G (p.Ala629Gly) c.1224C>G (n.1224C>G) c.1055C>G (p.Ala352Gly) c.887C>G (p.Ala296Gly) c.1943C>G (p.Ala648Gly) | |
17 | g.42543892C>T | CA399605373 | NAGLU | c.1886C>T (p.Ala629Val) c.1224C>T (n.1224C>T) c.1055C>T (p.Ala352Val) c.887C>T (p.Ala296Val) c.1943C>T (p.Ala648Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543893A>C | CA500218337 | NAGLU | c.1887A>C (p.Ala629=) c.1225A>C (n.1225A>C) c.1056A>C (p.Ala352=) c.888A>C (p.Ala296=) c.1944A>C (p.Ala648=) | |
17 | g.42543893A>G | CA500218349 | NAGLU | c.1887A>G (p.Ala629=) c.1225A>G (n.1225A>G) c.1056A>G (p.Ala352=) c.888A>G (p.Ala296=) c.1944A>G (p.Ala648=) | |
17 | g.42543893A>T | CA500218352 | NAGLU | c.1887A>T (p.Ala629=) c.1225A>T (n.1225A>T) c.1056A>T (p.Ala352=) c.888A>T (p.Ala296=) c.1944A>T (p.Ala648=) | |
17 | g.42543894G>A | CA8577114 | NAGLU | c.1888G>A (p.Val630Ile) c.1226G>A (n.1226G>A) c.1057G>A (p.Val353Ile) c.889G>A (p.Val297Ile) c.1945G>A (p.Val649Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543894G>C | CA399605381 | NAGLU | c.1888G>C (p.Val630Leu) c.1226G>C (n.1226G>C) c.1057G>C (p.Val353Leu) c.889G>C (p.Val297Leu) c.1945G>C (p.Val649Leu) | gnomAD v4 |
17 | g.42543894G= | CA2260530502 | NAGLU | c.1888G= (p.Val630=) c.1226G= (n.1226G=) c.1057G= (p.Val353=) c.889G= (p.Val297=) c.1945G= (p.Val649=) | |
17 | g.42543894G>T | CA399605379 | NAGLU | c.1888G>T (p.Val630Phe) c.1226G>T (n.1226G>T) c.1057G>T (p.Val353Phe) c.889G>T (p.Val297Phe) c.1945G>T (p.Val649Phe) | ClinVar dbSNP |
17 | g.42543895T>A | CA399605383 | NAGLU | c.1889T>A (p.Val630Asp) c.1227T>A (n.1227T>A) c.1058T>A (p.Val353Asp) c.890T>A (p.Val297Asp) c.1946T>A (p.Val649Asp) | |
17 | g.42543895T>C | CA399605386 | NAGLU | c.1889T>C (p.Val630Ala) c.1227T>C (n.1227T>C) c.1058T>C (p.Val353Ala) c.890T>C (p.Val297Ala) c.1946T>C (p.Val649Ala) | |
17 | g.42543895T>G | CA8577115 | NAGLU | c.1889T>G (p.Val630Gly) c.1227T>G (n.1227T>G) c.1058T>G (p.Val353Gly) c.890T>G (p.Val297Gly) c.1946T>G (p.Val649Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543895T= | CA2260530503 | NAGLU | c.1889T= (p.Val630=) c.1227T= (n.1227T=) c.1058T= (p.Val353=) c.890T= (p.Val297=) c.1946T= (p.Val649=) | |
17 | g.42543896C>A | CA500218366 | NAGLU | c.1890C>A (p.Val630=) c.1228C>A (n.1228C>A) c.1059C>A (p.Val353=) c.891C>A (p.Val297=) c.1947C>A (p.Val649=) | |
17 | g.42543896C= | CA2260530505 | NAGLU | c.1890C= (p.Val630=) c.1228C= (n.1228C=) c.1059C= (p.Val353=) c.891C= (p.Val297=) c.1947C= (p.Val649=) | |
17 | g.42543896C>G | CA500218369 | NAGLU | c.1890C>G (p.Val630=) c.1228C>G (n.1228C>G) c.1059C>G (p.Val353=) c.891C>G (p.Val297=) c.1947C>G (p.Val649=) | ClinVar dbSNP gnomAD v4 |
17 | g.42543896C>T | CA500218370 | NAGLU | c.1890C>T (p.Val630=) c.1228C>T (n.1228C>T) c.1059C>T (p.Val353=) c.891C>T (p.Val297=) c.1947C>T (p.Val649=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543896_42543900delinsCAGTG | CA2260530504 | NAGLU | c.1890_1894delinsCAGTG (p.Val630=) c.1228_1232delinsCAGTG (n.1228_1232delinsCAGTG) c.1059_1063delinsCAGTG (p.Val353=) c.891_895delinsCAGTG (p.Val297=) c.1947_1951delinsCAGTG (p.Val649=) | |
17 | g.42543897A= | CA2260530506 | NAGLU | c.1891A= (p.Ser631=) c.1229A= (n.1229A=) c.1060A= (p.Ser354=) c.892A= (p.Ser298=) c.1948A= (p.Ser650=) | |
17 | g.42543897A>C | CA399605388 | NAGLU | c.1891A>C (p.Ser631Arg) c.1229A>C (n.1229A>C) c.1060A>C (p.Ser354Arg) c.892A>C (p.Ser298Arg) c.1948A>C (p.Ser650Arg) | |
17 | g.42543897A>G | CA399605389 | NAGLU | c.1891A>G (p.Ser631Gly) c.1229A>G (n.1229A>G) c.1060A>G (p.Ser354Gly) c.892A>G (p.Ser298Gly) c.1948A>G (p.Ser650Gly) | dbSNP gnomAD v2 |
17 | g.42543897A>T | CA399605391 | NAGLU | c.1891A>T (p.Ser631Cys) c.1229A>T (n.1229A>T) c.1060A>T (p.Ser354Cys) c.892A>T (p.Ser298Cys) c.1948A>T (p.Ser650Cys) | dbSNP |
17 | g.42543899_42543902del | CA626218633 | NAGLU | c.1893_1896del (p.Ser631ArgfsTer15) c.1231_1234del (n.1231_1234del) c.1062_1065del (p.Ser354ArgfsTer15) c.894_897del (p.Ser298ArgfsTer15) c.1950_1953del (p.Ser650ArgfsTer15) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543897_42543908del | CA913012294 | NAGLU | c.1891_1902del (p.Ser631_Glu634del) c.1229_1240del (n.1229_1240del) c.1060_1071del (p.Ser354_Glu357del) c.892_903del (p.Ser298_Glu301del) c.1948_1959del (p.Ser650_Glu653del) | |
17 | g.42543897_42543908delinsAGTGAGGCCGAG | CA2260530507 | NAGLU | c.1891_1902delinsAGTGAGGCCGAG (p.Ser631=) c.1229_1240delinsAGTGAGGCCGAG (n.1229_1240delinsAGTGAGGCCGAG) c.1060_1071delinsAGTGAGGCCGAG (p.Ser354=) c.892_903delinsAGTGAGGCCGAG (p.Ser298=) c.1948_1959delinsAGTGAGGCCGAG (p.Ser650=) | |
17 | g.42543898G>A | CA399605393 | NAGLU | c.1892G>A (p.Ser631Asn) c.1230G>A (n.1230G>A) c.1061G>A (p.Ser354Asn) c.893G>A (p.Ser298Asn) c.1949G>A (p.Ser650Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543898G>C | CA399605395 | NAGLU | c.1892G>C (p.Ser631Thr) c.1230G>C (n.1230G>C) c.1061G>C (p.Ser354Thr) c.893G>C (p.Ser298Thr) c.1949G>C (p.Ser650Thr) | |
17 | g.42543898G= | CA2260530508 | NAGLU | c.1892G= (p.Ser631=) c.1230G= (n.1230G=) c.1061G= (p.Ser354=) c.893G= (p.Ser298=) c.1949G= (p.Ser650=) | |
17 | g.42543898G>T | CA399605396 | NAGLU | c.1892G>T (p.Ser631Ile) c.1230G>T (n.1230G>T) c.1061G>T (p.Ser354Ile) c.893G>T (p.Ser298Ile) c.1949G>T (p.Ser650Ile) | ClinVar dbSNP gnomAD v4 |
17 | g.42543899_42543909del | CA658823965 | NAGLU | c.1893_1903del (p.Glu632ArgfsTer?) c.1231_1241del (n.1231_1241del) c.1062_1072del (p.Glu355ArgfsTer?) c.894_904del (p.Glu299ArgfsTer?) c.1950_1960del (p.Glu651ArgfsTer?) | ClinVar dbSNP |
17 | g.42543899T>A | CA399605397 | NAGLU | c.1893T>A (p.Ser631Arg) c.1231T>A (n.1231T>A) c.1062T>A (p.Ser354Arg) c.894T>A (p.Ser298Arg) c.1950T>A (p.Ser650Arg) | |
17 | g.42543899T>C | CA500218375 | NAGLU | c.1893T>C (p.Ser631=) c.1231T>C (n.1231T>C) c.1062T>C (p.Ser354=) c.894T>C (p.Ser298=) c.1950T>C (p.Ser650=) | |
17 | g.42543899T>G | CA399605399 | NAGLU | c.1893T>G (p.Ser631Arg) c.1231T>G (n.1231T>G) c.1062T>G (p.Ser354Arg) c.894T>G (p.Ser298Arg) c.1950T>G (p.Ser650Arg) | |
17 | g.42543900G>A | CA399605401 | NAGLU | c.1894G>A (p.Glu632Lys) c.1232G>A (n.1232G>A) c.1063G>A (p.Glu355Lys) c.895G>A (p.Glu299Lys) c.1951G>A (p.Glu651Lys) | gnomAD v4 |
17 | g.42543900G>C | CA399605402 | NAGLU | c.1894G>C (p.Glu632Gln) c.1232G>C (n.1232G>C) c.1063G>C (p.Glu355Gln) c.895G>C (p.Glu299Gln) c.1951G>C (p.Glu651Gln) | |
17 | g.42543900G>T | CA399605405 | NAGLU | c.1894G>T (p.Glu632Ter) c.1232G>T (n.1232G>T) c.1063G>T (p.Glu355Ter) c.895G>T (p.Glu299Ter) c.1951G>T (p.Glu651Ter) | |
17 | g.42543908_42543913dup | CA2637971728 | NAGLU | c.1902_1907dup (p.Ala635_Asp636insGluAla) c.1240_1245dup (n.1240_1245dup) c.1071_1076dup (p.Ala358_Asp359insGluAla) c.903_908dup (p.Ala302_Asp303insGluAla) c.1959_1964dup (p.Ala654_Asp655insGluAla) | gnomAD v4 |
17 | g.42543901A>C | CA399605411 | NAGLU | c.1895A>C (p.Glu632Ala) c.1233A>C (n.1233A>C) c.1064A>C (p.Glu355Ala) c.896A>C (p.Glu299Ala) c.1952A>C (p.Glu651Ala) | |
17 | g.42543901A>G | CA399605409 | NAGLU | c.1895A>G (p.Glu632Gly) c.1233A>G (n.1233A>G) c.1064A>G (p.Glu355Gly) c.896A>G (p.Glu299Gly) c.1952A>G (p.Glu651Gly) | gnomAD v4 |
17 | g.42543901A>T | CA399605407 | NAGLU | c.1895A>T (p.Glu632Val) c.1233A>T (n.1233A>T) c.1064A>T (p.Glu355Val) c.896A>T (p.Glu299Val) c.1952A>T (p.Glu651Val) | |
17 | g.42543902G>A | CA500218392 | NAGLU | c.1896G>A (p.Glu632=) c.1234G>A (n.1234G>A) c.1065G>A (p.Glu355=) c.897G>A (p.Glu299=) c.1953G>A (p.Glu651=) | ClinVar dbSNP |
17 | g.42543902G>C | CA399605412 | NAGLU | c.1896G>C (p.Glu632Asp) c.1234G>C (n.1234G>C) c.1065G>C (p.Glu355Asp) c.897G>C (p.Glu299Asp) c.1953G>C (p.Glu651Asp) | gnomAD v4 |
17 | g.42543902G>T | CA399605414 | NAGLU | c.1896G>T (p.Glu632Asp) c.1234G>T (n.1234G>T) c.1065G>T (p.Glu355Asp) c.897G>T (p.Glu299Asp) c.1953G>T (p.Glu651Asp) | gnomAD v4 |
17 | g.42543903G>A | CA399605416 | NAGLU | c.1897G>A (p.Ala633Thr) c.1235G>A (n.1235G>A) c.1066G>A (p.Ala356Thr) c.898G>A (p.Ala300Thr) c.1954G>A (p.Ala652Thr) | dbSNP gnomAD v4 |
17 | g.42543903G>C | CA399605417 | NAGLU | c.1897G>C (p.Ala633Pro) c.1235G>C (n.1235G>C) c.1066G>C (p.Ala356Pro) c.898G>C (p.Ala300Pro) c.1954G>C (p.Ala652Pro) | |
17 | g.42543903G= | CA2260530509 | NAGLU | c.1897G= (p.Ala633=) c.1235G= (n.1235G=) c.1066G= (p.Ala356=) c.898G= (p.Ala300=) c.1954G= (p.Ala652=) | |
17 | g.42543903G>T | CA399605418 | NAGLU | c.1897G>T (p.Ala633Ser) c.1235G>T (n.1235G>T) c.1066G>T (p.Ala356Ser) c.898G>T (p.Ala300Ser) c.1954G>T (p.Ala652Ser) | dbSNP |
17 | g.42543904C>A | CA290781121 | NAGLU | c.1898C>A (p.Ala633Asp) c.1236C>A (n.1236C>A) c.1067C>A (p.Ala356Asp) c.899C>A (p.Ala300Asp) c.1955C>A (p.Ala652Asp) | dbSNP gnomAD v4 |
17 | g.42543904C= | CA2260530510 | NAGLU | c.1898C= (p.Ala633=) c.1236C= (n.1236C=) c.1067C= (p.Ala356=) c.899C= (p.Ala300=) c.1955C= (p.Ala652=) | |
17 | g.42543904C>G | CA8577116 | NAGLU | c.1898C>G (p.Ala633Gly) c.1236C>G (n.1236C>G) c.1067C>G (p.Ala356Gly) c.899C>G (p.Ala300Gly) c.1955C>G (p.Ala652Gly) | dbSNP ExAC |
17 | g.42543904C>T | CA399605419 | NAGLU | c.1898C>T (p.Ala633Val) c.1236C>T (n.1236C>T) c.1067C>T (p.Ala356Val) c.899C>T (p.Ala300Val) c.1955C>T (p.Ala652Val) | dbSNP gnomAD v2 |
17 | g.42543905C>A | CA500218410 | NAGLU | c.1899C>A (p.Ala633=) c.1237C>A (n.1237C>A) c.1068C>A (p.Ala356=) c.900C>A (p.Ala300=) c.1956C>A (p.Ala652=) | gnomAD v4 |
17 | g.42543905C= | CA2260530511 | NAGLU | c.1899C= (p.Ala633=) c.1237C= (n.1237C=) c.1068C= (p.Ala356=) c.900C= (p.Ala300=) c.1956C= (p.Ala652=) | |
17 | g.42543905C>G | CA500218406 | NAGLU | c.1899C>G (p.Ala633=) c.1237C>G (n.1237C>G) c.1068C>G (p.Ala356=) c.900C>G (p.Ala300=) c.1956C>G (p.Ala652=) | |
17 | g.42543905C>T | CA8577117 | NAGLU | c.1899C>T (p.Ala633=) c.1237C>T (n.1237C>T) c.1068C>T (p.Ala356=) c.900C>T (p.Ala300=) c.1956C>T (p.Ala652=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543906G>A | CA290781124 | NAGLU | c.1900G>A (p.Glu634Lys) c.1238G>A (n.1238G>A) c.1069G>A (p.Glu357Lys) c.901G>A (p.Glu301Lys) c.1957G>A (p.Glu653Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543906G>C | CA399605420 | NAGLU | c.1900G>C (p.Glu634Gln) c.1238G>C (n.1238G>C) c.1069G>C (p.Glu357Gln) c.901G>C (p.Glu301Gln) c.1957G>C (p.Glu653Gln) | |
17 | g.42543906G= | CA2260530512 | NAGLU | c.1900G= (p.Glu634=) c.1238G= (n.1238G=) c.1069G= (p.Glu357=) c.901G= (p.Glu301=) c.1957G= (p.Glu653=) | |
17 | g.42543906G>T | CA399605421 | NAGLU | c.1900G>T (p.Glu634Ter) c.1238G>T (n.1238G>T) c.1069G>T (p.Glu357Ter) c.901G>T (p.Glu301Ter) c.1957G>T (p.Glu653Ter) | |
17 | g.42543907A>C | CA399605424 | NAGLU | c.1901A>C (p.Glu634Ala) c.1239A>C (n.1239A>C) c.1070A>C (p.Glu357Ala) c.902A>C (p.Glu301Ala) c.1958A>C (p.Glu653Ala) | |
17 | g.42543907A>G | CA399605423 | NAGLU | c.1901A>G (p.Glu634Gly) c.1239A>G (n.1239A>G) c.1070A>G (p.Glu357Gly) c.902A>G (p.Glu301Gly) c.1958A>G (p.Glu653Gly) | gnomAD v4 |
17 | g.42543907A>T | CA399605422 | NAGLU | c.1901A>T (p.Glu634Val) c.1239A>T (n.1239A>T) c.1070A>T (p.Glu357Val) c.902A>T (p.Glu301Val) c.1958A>T (p.Glu653Val) | |
17 | g.42543908G>A | CA500218426 | NAGLU | c.1902G>A (p.Glu634=) c.1240G>A (n.1240G>A) c.1071G>A (p.Glu357=) c.903G>A (p.Glu301=) c.1959G>A (p.Glu653=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543908G>C | CA399605425 | NAGLU | c.1902G>C (p.Glu634Asp) c.1240G>C (n.1240G>C) c.1071G>C (p.Glu357Asp) c.903G>C (p.Glu301Asp) c.1959G>C (p.Glu653Asp) | |
17 | g.42543908G= | CA2260530513 | NAGLU | c.1902G= (p.Glu634=) c.1240G= (n.1240G=) c.1071G= (p.Glu357=) c.903G= (p.Glu301=) c.1959G= (p.Glu653=) | |
17 | g.42543908G>T | CA399605426 | NAGLU | c.1902G>T (p.Glu634Asp) c.1240G>T (n.1240G>T) c.1071G>T (p.Glu357Asp) c.903G>T (p.Glu301Asp) c.1959G>T (p.Glu653Asp) | |
17 | g.42543909G>A | CA399605427 | NAGLU | c.1903G>A (p.Ala635Thr) c.1241G>A (n.1241G>A) c.1072G>A (p.Ala358Thr) c.904G>A (p.Ala302Thr) c.1960G>A (p.Ala654Thr) | ClinVar dbSNP gnomAD v2 |
17 | g.42543909G>C | CA399605428 | NAGLU | c.1903G>C (p.Ala635Pro) c.1241G>C (n.1241G>C) c.1072G>C (p.Ala358Pro) c.904G>C (p.Ala302Pro) c.1960G>C (p.Ala654Pro) | |
17 | g.42543909G= | CA2260530514 | NAGLU | c.1903G= (p.Ala635=) c.1241G= (n.1241G=) c.1072G= (p.Ala358=) c.904G= (p.Ala302=) c.1960G= (p.Ala654=) | |
17 | g.42543909G>T | CA399605429 | NAGLU | c.1903G>T (p.Ala635Ser) c.1241G>T (n.1241G>T) c.1072G>T (p.Ala358Ser) c.904G>T (p.Ala302Ser) c.1960G>T (p.Ala654Ser) | |
17 | g.42543910C>A | CA399605430 | NAGLU | c.1904C>A (p.Ala635Asp) c.1242C>A (n.1242C>A) c.1073C>A (p.Ala358Asp) c.905C>A (p.Ala302Asp) c.1961C>A (p.Ala654Asp) | gnomAD v4 |
17 | g.42543910C>G | CA399605431 | NAGLU | c.1904C>G (p.Ala635Gly) c.1242C>G (n.1242C>G) c.1073C>G (p.Ala358Gly) c.905C>G (p.Ala302Gly) c.1961C>G (p.Ala654Gly) | |
17 | g.42543910C>T | CA399605432 | NAGLU | c.1904C>T (p.Ala635Val) c.1242C>T (n.1242C>T) c.1073C>T (p.Ala358Val) c.905C>T (p.Ala302Val) c.1961C>T (p.Ala654Val) | COSMIC |
17 | g.42543911C>A | CA500218442 | NAGLU | c.1905C>A (p.Ala635=) c.1243C>A (n.1243C>A) c.1074C>A (p.Ala358=) c.906C>A (p.Ala302=) c.1962C>A (p.Ala654=) | |
17 | g.42543911C= | CA2260530515 | NAGLU | c.1905C= (p.Ala635=) c.1243C= (n.1243C=) c.1074C= (p.Ala358=) c.906C= (p.Ala302=) c.1962C= (p.Ala654=) | |
17 | g.42543911C>G | CA500218438 | NAGLU | c.1905C>G (p.Ala635=) c.1243C>G (n.1243C>G) c.1074C>G (p.Ala358=) c.906C>G (p.Ala302=) c.1962C>G (p.Ala654=) | |
17 | g.42543911C>T | CA8577118 | NAGLU | c.1905C>T (p.Ala635=) c.1243C>T (n.1243C>T) c.1074C>T (p.Ala358=) c.906C>T (p.Ala302=) c.1962C>T (p.Ala654=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543912G>A | CA8577119 | NAGLU | c.1906G>A (p.Asp636Asn) c.1244G>A (n.1244G>A) c.1075G>A (p.Asp359Asn) c.907G>A (p.Asp303Asn) c.1963G>A (p.Asp655Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543912G>C | CA399605433 | NAGLU | c.1906G>C (p.Asp636His) c.1244G>C (n.1244G>C) c.1075G>C (p.Asp359His) c.907G>C (p.Asp303His) c.1963G>C (p.Asp655His) | |
17 | g.42543912G= | CA2260530516 | NAGLU | c.1906G= (p.Asp636=) c.1244G= (n.1244G=) c.1075G= (p.Asp359=) c.907G= (p.Asp303=) c.1963G= (p.Asp655=) | |
17 | g.42543912G>T | CA399605434 | NAGLU | c.1906G>T (p.Asp636Tyr) c.1244G>T (n.1244G>T) c.1075G>T (p.Asp359Tyr) c.907G>T (p.Asp303Tyr) c.1963G>T (p.Asp655Tyr) | gnomAD v4 |
17 | g.42543913A= | CA2260530517 | NAGLU | c.1907A= (p.Asp636=) c.1245A= (n.1245A=) c.1076A= (p.Asp359=) c.908A= (p.Asp303=) c.1964A= (p.Asp655=) | |
17 | g.42543913A>C | CA399605437 | NAGLU | c.1907A>C (p.Asp636Ala) c.1245A>C (n.1245A>C) c.1076A>C (p.Asp359Ala) c.908A>C (p.Asp303Ala) c.1964A>C (p.Asp655Ala) | |
17 | g.42543913A>G | CA399605436 | NAGLU | c.1907A>G (p.Asp636Gly) c.1245A>G (n.1245A>G) c.1076A>G (p.Asp359Gly) c.908A>G (p.Asp303Gly) c.1964A>G (p.Asp655Gly) | dbSNP |
17 | g.42543913A>T | CA399605435 | NAGLU | c.1907A>T (p.Asp636Val) c.1245A>T (n.1245A>T) c.1076A>T (p.Asp359Val) c.908A>T (p.Asp303Val) c.1964A>T (p.Asp655Val) | |
17 | g.42543914T>A | CA399605438 | NAGLU | c.1908T>A (p.Asp636Glu) c.1246T>A (n.1246T>A) c.1077T>A (p.Asp359Glu) c.909T>A (p.Asp303Glu) c.1965T>A (p.Asp655Glu) | |
17 | g.42543914T>C | CA500218457 | NAGLU | c.1908T>C (p.Asp636=) c.1246T>C (n.1246T>C) c.1077T>C (p.Asp359=) c.909T>C (p.Asp303=) c.1965T>C (p.Asp655=) | |
17 | g.42543914T>G | CA399605439 | NAGLU | c.1908T>G (p.Asp636Glu) c.1246T>G (n.1246T>G) c.1077T>G (p.Asp359Glu) c.909T>G (p.Asp303Glu) c.1965T>G (p.Asp655Glu) | |
17 | g.42543915T>A | CA399605440 | NAGLU | c.1909T>A (p.Phe637Ile) c.1247T>A (n.1247T>A) c.1078T>A (p.Phe360Ile) c.910T>A (p.Phe304Ile) c.1966T>A (p.Phe656Ile) | |
17 | g.42543915T>C | CA399605441 | NAGLU | c.1909T>C (p.Phe637Leu) c.1247T>C (n.1247T>C) c.1078T>C (p.Phe360Leu) c.910T>C (p.Phe304Leu) c.1966T>C (p.Phe656Leu) | ClinVar |
17 | g.42543915T>G | CA399605442 | NAGLU | c.1909T>G (p.Phe637Val) c.1247T>G (n.1247T>G) c.1078T>G (p.Phe360Val) c.910T>G (p.Phe304Val) c.1966T>G (p.Phe656Val) | |
17 | g.42543916_42543918del | CA2695225867 | NAGLU | c.1910_1912del (p.Phe637del) c.1248_1250del (n.1248_1250del) c.1079_1081del (p.Phe360del) c.911_913del (p.Phe304del) c.1967_1969del (p.Phe656del) | |
17 | g.42543916T>A | CA399605443 | NAGLU | c.1910T>A (p.Phe637Tyr) c.1248T>A (n.1248T>A) c.1079T>A (p.Phe360Tyr) c.911T>A (p.Phe304Tyr) c.1967T>A (p.Phe656Tyr) | |
17 | g.42543916T>C | CA399605444 | NAGLU | c.1910T>C (p.Phe637Ser) c.1248T>C (n.1248T>C) c.1079T>C (p.Phe360Ser) c.911T>C (p.Phe304Ser) c.1967T>C (p.Phe656Ser) | |
17 | g.42543916T>G | CA399605445 | NAGLU | c.1910T>G (p.Phe637Cys) c.1248T>G (n.1248T>G) c.1079T>G (p.Phe360Cys) c.911T>G (p.Phe304Cys) c.1967T>G (p.Phe656Cys) | |
17 | g.42543917C>A | CA399605446 | NAGLU | c.1911C>A (p.Phe637Leu) c.1249C>A (n.1249C>A) c.1080C>A (p.Phe360Leu) c.912C>A (p.Phe304Leu) c.1968C>A (p.Phe656Leu) | gnomAD v4 |
17 | g.42543917C= | CA2260530518 | NAGLU | c.1911C= (p.Phe637=) c.1249C= (n.1249C=) c.1080C= (p.Phe360=) c.912C= (p.Phe304=) c.1968C= (p.Phe656=) | |
17 | g.42543917C>G | CA399605447 | NAGLU | c.1911C>G (p.Phe637Leu) c.1249C>G (n.1249C>G) c.1080C>G (p.Phe360Leu) c.912C>G (p.Phe304Leu) c.1968C>G (p.Phe656Leu) | ClinVar |
17 | g.42543917C>T | CA500218490 | NAGLU | c.1911C>T (p.Phe637=) c.1249C>T (n.1249C>T) c.1080C>T (p.Phe360=) c.912C>T (p.Phe304=) c.1968C>T (p.Phe656=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.42543918T>A | CA399605448 | NAGLU | c.1912T>A (p.Tyr638Asn) c.1250T>A (n.1250T>A) c.1081T>A (p.Tyr361Asn) c.913T>A (p.Tyr305Asn) c.1969T>A (p.Tyr657Asn) | |
17 | g.42543918T>C | CA399605449 | NAGLU | c.1912T>C (p.Tyr638His) c.1250T>C (n.1250T>C) c.1081T>C (p.Tyr361His) c.913T>C (p.Tyr305His) c.1969T>C (p.Tyr657His) | |
17 | g.42543918T>G | CA399605450 | NAGLU | c.1912T>G (p.Tyr638Asp) c.1250T>G (n.1250T>G) c.1081T>G (p.Tyr361Asp) c.913T>G (p.Tyr305Asp) c.1969T>G (p.Tyr657Asp) | |
17 | g.42543919A>C | CA399605452 | NAGLU | c.1913A>C (p.Tyr638Ser) c.1251A>C (n.1251A>C) c.1082A>C (p.Tyr361Ser) c.914A>C (p.Tyr305Ser) c.1970A>C (p.Tyr657Ser) | |
17 | g.42543919A>G | CA399605453 | NAGLU | c.1913A>G (p.Tyr638Cys) c.1251A>G (n.1251A>G) c.1082A>G (p.Tyr361Cys) c.914A>G (p.Tyr305Cys) c.1970A>G (p.Tyr657Cys) | ClinVar dbSNP |
17 | g.42543919A>T | CA399605451 | NAGLU | c.1913A>T (p.Tyr638Phe) c.1251A>T (n.1251A>T) c.1082A>T (p.Tyr361Phe) c.914A>T (p.Tyr305Phe) c.1970A>T (p.Tyr657Phe) | |
17 | g.42543920C>A | CA399605454 | NAGLU | c.1914C>A (p.Tyr638Ter) c.1252C>A (n.1252C>A) c.1083C>A (p.Tyr361Ter) c.915C>A (p.Tyr305Ter) c.1971C>A (p.Tyr657Ter) | |
17 | g.42543920C= | CA2260530519 | NAGLU | c.1914C= (p.Tyr638=) c.1252C= (n.1252C=) c.1083C= (p.Tyr361=) c.915C= (p.Tyr305=) c.1971C= (p.Tyr657=) | |
17 | g.42543920C>G | CA399605455 | NAGLU | c.1914C>G (p.Tyr638Ter) c.1252C>G (n.1252C>G) c.1083C>G (p.Tyr361Ter) c.915C>G (p.Tyr305Ter) c.1971C>G (p.Tyr657Ter) | |
17 | g.42543920C>T | CA8577120 | NAGLU | c.1914C>T (p.Tyr638=) c.1252C>T (n.1252C>T) c.1083C>T (p.Tyr361=) c.915C>T (p.Tyr305=) c.1971C>T (p.Tyr657=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543921G>A | CA399605456 | NAGLU | c.1915G>A (p.Glu639Lys) c.1253G>A (n.1253G>A) c.1084G>A (p.Glu362Lys) c.916G>A (p.Glu306Lys) c.1972G>A (p.Glu658Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543921G>C | CA290781130 | NAGLU | c.1915G>C (p.Glu639Gln) c.1253G>C (n.1253G>C) c.1084G>C (p.Glu362Gln) c.916G>C (p.Glu306Gln) c.1972G>C (p.Glu658Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543921G= | CA2260530520 | NAGLU | c.1915G= (p.Glu639=) c.1253G= (n.1253G=) c.1084G= (p.Glu362=) c.916G= (p.Glu306=) c.1972G= (p.Glu658=) | |
17 | g.42543921G>T | CA399605457 | NAGLU | c.1915G>T (p.Glu639Ter) c.1253G>T (n.1253G>T) c.1084G>T (p.Glu362Ter) c.916G>T (p.Glu306Ter) c.1972G>T (p.Glu658Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.42543921delinsTT | CA2580093761 | NAGLU | c.1915delinsTT (p.Glu639LeufsTer?) c.1253delinsTT (n.1253delinsTT) c.1084delinsTT (p.Glu362LeufsTer?) c.916delinsTT (p.Glu306LeufsTer?) c.1972delinsTT (p.Glu658LeufsTer?) | ClinVar |
17 | g.42543922A= | CA2260530521 | NAGLU | c.1916A= (p.Glu639=) c.1254A= (n.1254A=) c.1085A= (p.Glu362=) c.917A= (p.Glu306=) c.1973A= (p.Glu658=) | |
17 | g.42543922A>C | CA399605460 | NAGLU | c.1916A>C (p.Glu639Ala) c.1254A>C (n.1254A>C) c.1085A>C (p.Glu362Ala) c.917A>C (p.Glu306Ala) c.1973A>C (p.Glu658Ala) | |
17 | g.42543922A>G | CA399605463 | NAGLU | c.1916A>G (p.Glu639Gly) c.1254A>G (n.1254A>G) c.1085A>G (p.Glu362Gly) c.917A>G (p.Glu306Gly) c.1973A>G (p.Glu658Gly) | dbSNP gnomAD v4 |
17 | g.42543922A>T | CA399605462 | NAGLU | c.1916A>T (p.Glu639Val) c.1254A>T (n.1254A>T) c.1085A>T (p.Glu362Val) c.917A>T (p.Glu306Val) c.1973A>T (p.Glu658Val) | |
17 | g.42543923G>A | CA500218516 | NAGLU | c.1917G>A (p.Glu639=) c.1255G>A (n.1255G>A) c.1086G>A (p.Glu362=) c.918G>A (p.Glu306=) c.1974G>A (p.Glu658=) | |
17 | g.42543923G>C | CA399605466 | NAGLU | c.1917G>C (p.Glu639Asp) c.1255G>C (n.1255G>C) c.1086G>C (p.Glu362Asp) c.918G>C (p.Glu306Asp) c.1974G>C (p.Glu658Asp) | dbSNP gnomAD v2 |
17 | g.42543923G= | CA2260530522 | NAGLU | c.1917G= (p.Glu639=) c.1255G= (n.1255G=) c.1086G= (p.Glu362=) c.918G= (p.Glu306=) c.1974G= (p.Glu658=) | |
17 | g.42543923G>T | CA399605467 | NAGLU | c.1917G>T (p.Glu639Asp) c.1255G>T (n.1255G>T) c.1086G>T (p.Glu362Asp) c.918G>T (p.Glu306Asp) c.1974G>T (p.Glu658Asp) | |
17 | g.42543924C>A | CA399605469 | NAGLU | c.1918C>A (p.Gln640Lys) c.1256C>A (n.1256C>A) c.1087C>A (p.Gln363Lys) c.919C>A (p.Gln307Lys) c.1975C>A (p.Gln659Lys) | gnomAD v4 |
17 | g.42543924C= | CA2260530523 | NAGLU | c.1918C= (p.Gln640=) c.1256C= (n.1256C=) c.1087C= (p.Gln363=) c.919C= (p.Gln307=) c.1975C= (p.Gln659=) | |
17 | g.42543924C>G | CA399605471 | NAGLU | c.1918C>G (p.Gln640Glu) c.1256C>G (n.1256C>G) c.1087C>G (p.Gln363Glu) c.919C>G (p.Gln307Glu) c.1975C>G (p.Gln659Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543924C>T | CA8577121 | NAGLU | c.1918C>T (p.Gln640Ter) c.1256C>T (n.1256C>T) c.1087C>T (p.Gln363Ter) c.919C>T (p.Gln307Ter) c.1975C>T (p.Gln659Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543925A= | CA2260530524 | NAGLU | c.1919A= (p.Gln640=) c.1257A= (n.1257A=) c.1088A= (p.Gln363=) c.920A= (p.Gln307=) c.1976A= (p.Gln659=) | |
17 | g.42543925A>C | CA399605474 | NAGLU | c.1919A>C (p.Gln640Pro) c.1257A>C (n.1257A>C) c.1088A>C (p.Gln363Pro) c.920A>C (p.Gln307Pro) c.1976A>C (p.Gln659Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543925A>G | CA8577122 | NAGLU | c.1919A>G (p.Gln640Arg) c.1257A>G (n.1257A>G) c.1088A>G (p.Gln363Arg) c.920A>G (p.Gln307Arg) c.1976A>G (p.Gln659Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543925A>T | CA399605477 | NAGLU | c.1919A>T (p.Gln640Leu) c.1257A>T (n.1257A>T) c.1088A>T (p.Gln363Leu) c.920A>T (p.Gln307Leu) c.1976A>T (p.Gln659Leu) | gnomAD v4 |
17 | g.42543926G>A | CA500218536 | NAGLU | c.1920G>A (p.Gln640=) c.1258G>A (n.1258G>A) c.1089G>A (p.Gln363=) c.921G>A (p.Gln307=) c.1977G>A (p.Gln659=) | dbSNP |
17 | g.42543926G>C | CA399605479 | NAGLU | c.1920G>C (p.Gln640His) c.1258G>C (n.1258G>C) c.1089G>C (p.Gln363His) c.921G>C (p.Gln307His) c.1977G>C (p.Gln659His) | |
17 | g.42543926G= | CA2260530525 | NAGLU | c.1920G= (p.Gln640=) c.1258G= (n.1258G=) c.1089G= (p.Gln363=) c.921G= (p.Gln307=) c.1977G= (p.Gln659=) | |
17 | g.42543926G>T | CA399605481 | NAGLU | c.1920G>T (p.Gln640His) c.1258G>T (n.1258G>T) c.1089G>T (p.Gln363His) c.921G>T (p.Gln307His) c.1977G>T (p.Gln659His) | gnomAD v4 |
17 | g.42543927A>C | CA399605486 | NAGLU | c.1921A>C (p.Asn641His) c.1259A>C (n.1259A>C) c.1090A>C (p.Asn364His) c.922A>C (p.Asn308His) c.1978A>C (p.Asn660His) | |
17 | g.42543927A>G | CA399605484 | NAGLU | c.1921A>G (p.Asn641Asp) c.1259A>G (n.1259A>G) c.1090A>G (p.Asn364Asp) c.922A>G (p.Asn308Asp) c.1978A>G (p.Asn660Asp) | COSMIC |
17 | g.42543927A>T | CA399605483 | NAGLU | c.1921A>T (p.Asn641Tyr) c.1259A>T (n.1259A>T) c.1090A>T (p.Asn364Tyr) c.922A>T (p.Asn308Tyr) c.1978A>T (p.Asn660Tyr) | ClinVar gnomAD v4 |
17 | g.42543928A= | CA2260530526 | NAGLU | c.1922A= (p.Asn641=) c.1260A= (n.1260A=) c.1091A= (p.Asn364=) c.923A= (p.Asn308=) c.1979A= (p.Asn660=) | |
17 | g.42543928A>C | CA8577123 | NAGLU | c.1922A>C (p.Asn641Thr) c.1260A>C (n.1260A>C) c.1091A>C (p.Asn364Thr) c.923A>C (p.Asn308Thr) c.1979A>C (p.Asn660Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543928A>G | CA399605488 | NAGLU | c.1922A>G (p.Asn641Ser) c.1260A>G (n.1260A>G) c.1091A>G (p.Asn364Ser) c.923A>G (p.Asn308Ser) c.1979A>G (p.Asn660Ser) | |
17 | g.42543928A>T | CA399605489 | NAGLU | c.1922A>T (p.Asn641Ile) c.1260A>T (n.1260A>T) c.1091A>T (p.Asn364Ile) c.923A>T (p.Asn308Ile) c.1979A>T (p.Asn660Ile) | |
17 | g.42543929C>A | CA399605491 | NAGLU | c.1923C>A (p.Asn641Lys) c.1261C>A (n.1261C>A) c.1092C>A (p.Asn364Lys) c.924C>A (p.Asn308Lys) c.1980C>A (p.Asn660Lys) | |
17 | g.42543929C= | CA2260530527 | NAGLU | c.1923C= (p.Asn641=) c.1261C= (n.1261C=) c.1092C= (p.Asn364=) c.924C= (p.Asn308=) c.1980C= (p.Asn660=) | |
17 | g.42543929C>G | CA399605492 | NAGLU | c.1923C>G (p.Asn641Lys) c.1261C>G (n.1261C>G) c.1092C>G (p.Asn364Lys) c.924C>G (p.Asn308Lys) c.1980C>G (p.Asn660Lys) | ClinVar gnomAD v4 |
17 | g.42543929C>T | CA500218551 | NAGLU | c.1923C>T (p.Asn641=) c.1261C>T (n.1261C>T) c.1092C>T (p.Asn364=) c.924C>T (p.Asn308=) c.1980C>T (p.Asn660=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543930A>C | CA399605495 | NAGLU | c.1924A>C (p.Ser642Arg) c.1262A>C (n.1262A>C) c.1093A>C (p.Ser365Arg) c.925A>C (p.Ser309Arg) c.1981A>C (p.Ser661Arg) | |
17 | g.42543930A>G | CA399605496 | NAGLU | c.1924A>G (p.Ser642Gly) c.1262A>G (n.1262A>G) c.1093A>G (p.Ser365Gly) c.925A>G (p.Ser309Gly) c.1981A>G (p.Ser661Gly) | gnomAD v4 |
17 | g.42543930A>T | CA399605498 | NAGLU | c.1924A>T (p.Ser642Cys) c.1262A>T (n.1262A>T) c.1093A>T (p.Ser365Cys) c.925A>T (p.Ser309Cys) c.1981A>T (p.Ser661Cys) | |
17 | g.42543931G>A | CA399605501 | NAGLU | c.1925G>A (p.Ser642Asn) c.1263G>A (n.1263G>A) c.1094G>A (p.Ser365Asn) c.926G>A (p.Ser309Asn) c.1982G>A (p.Ser661Asn) | |
17 | g.42543931G>C | CA399605502 | NAGLU | c.1925G>C (p.Ser642Thr) c.1263G>C (n.1263G>C) c.1094G>C (p.Ser365Thr) c.926G>C (p.Ser309Thr) c.1982G>C (p.Ser661Thr) | |
17 | g.42543931G>T | CA399605504 | NAGLU | c.1925G>T (p.Ser642Ile) c.1263G>T (n.1263G>T) c.1094G>T (p.Ser365Ile) c.926G>T (p.Ser309Ile) c.1982G>T (p.Ser661Ile) | |
17 | g.42543932C>A | CA399605507 | NAGLU | c.1926C>A (p.Ser642Arg) c.1264C>A (n.1264C>A) c.1095C>A (p.Ser365Arg) c.927C>A (p.Ser309Arg) c.1983C>A (p.Ser661Arg) | gnomAD v4 |
17 | g.42543932C= | CA2260530528 | NAGLU | c.1926C= (p.Ser642=) c.1264C= (n.1264C=) c.1095C= (p.Ser365=) c.927C= (p.Ser309=) c.1983C= (p.Ser661=) | |
17 | g.42543932C>G | CA399605506 | NAGLU | c.1926C>G (p.Ser642Arg) c.1264C>G (n.1264C>G) c.1095C>G (p.Ser365Arg) c.927C>G (p.Ser309Arg) c.1983C>G (p.Ser661Arg) | |
17 | g.42543932C>T | CA500218573 | NAGLU | c.1926C>T (p.Ser642=) c.1264C>T (n.1264C>T) c.1095C>T (p.Ser365=) c.927C>T (p.Ser309=) c.1983C>T (p.Ser661=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543933del | CA2637971777 | NAGLU | c.1927del (p.Arg643AlafsTer4) c.1265del (n.1265del) c.1096del (p.Arg366AlafsTer4) c.928del (p.Arg310AlafsTer4) c.1984del (p.Arg662AlafsTer4) | gnomAD v4 |
17 | g.42543933C>A | CA399605509 | NAGLU | c.1927C>A (p.Arg643Ser) c.1265C>A (n.1265C>A) c.1096C>A (p.Arg366Ser) c.928C>A (p.Arg310Ser) c.1984C>A (p.Arg662Ser) | dbSNP |
17 | g.42543933C= | CA2260530529 | NAGLU | c.1927C= (p.Arg643=) c.1265C= (n.1265C=) c.1096C= (p.Arg366=) c.928C= (p.Arg310=) c.1984C= (p.Arg662=) | |
17 | g.42543933C>G | CA399605510 | NAGLU | c.1927C>G (p.Arg643Gly) c.1265C>G (n.1265C>G) c.1096C>G (p.Arg366Gly) c.928C>G (p.Arg310Gly) c.1984C>G (p.Arg662Gly) | |
17 | g.42543933C>T | CA115048 | NAGLU | c.1927C>T (p.Arg643Cys) c.1265C>T (n.1265C>T) c.1096C>T (p.Arg366Cys) c.928C>T (p.Arg310Cys) c.1984C>T (p.Arg662Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543934_42543938dup | CA2695225868 | NAGLU | c.1928_1932dup (p.Gln645AlafsTer4) c.1266_1270dup (n.1266_1270dup) c.1097_1101dup (p.Gln368AlafsTer4) c.929_933dup (p.Gln312AlafsTer4) c.1985_1989dup (p.Gln664AlafsTer4) | |
17 | g.42543934G>A | CA250027 | NAGLU | c.1928G>A (p.Arg643His) c.1266G>A (n.1266G>A) c.1097G>A (p.Arg366His) c.929G>A (p.Arg310His) c.1985G>A (p.Arg662His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543934G>C | CA399605512 | NAGLU | c.1928G>C (p.Arg643Pro) c.1266G>C (n.1266G>C) c.1097G>C (p.Arg366Pro) c.929G>C (p.Arg310Pro) c.1985G>C (p.Arg662Pro) | |
17 | g.42543934G= | CA2260530530 | NAGLU | c.1928G= (p.Arg643=) c.1266G= (n.1266G=) c.1097G= (p.Arg366=) c.929G= (p.Arg310=) c.1985G= (p.Arg662=) | |
17 | g.42543934G>T | CA399605514 | NAGLU | c.1928G>T (p.Arg643Leu) c.1266G>T (n.1266G>T) c.1097G>T (p.Arg366Leu) c.929G>T (p.Arg310Leu) c.1985G>T (p.Arg662Leu) | |
17 | g.42543935C>A | CA500218593 | NAGLU | c.1929C>A (p.Arg643=) c.1267C>A (n.1267C>A) c.1098C>A (p.Arg366=) c.930C>A (p.Arg310=) c.1986C>A (p.Arg662=) | ClinVar gnomAD v4 |
17 | g.42543935C>G | CA500218590 | NAGLU | c.1929C>G (p.Arg643=) c.1267C>G (n.1267C>G) c.1098C>G (p.Arg366=) c.930C>G (p.Arg310=) c.1986C>G (p.Arg662=) | |
17 | g.42543935C>T | CA500218588 | NAGLU | c.1929C>T (p.Arg643=) c.1267C>T (n.1267C>T) c.1098C>T (p.Arg366=) c.930C>T (p.Arg310=) c.1986C>T (p.Arg662=) | |
17 | g.42543936T>A | CA399605517 | NAGLU | c.1930T>A (p.Tyr644Asn) c.1268T>A (n.1268T>A) c.1099T>A (p.Tyr367Asn) c.931T>A (p.Tyr311Asn) c.1987T>A (p.Tyr663Asn) | |
17 | g.42543936T>C | CA399605518 | NAGLU | c.1930T>C (p.Tyr644His) c.1268T>C (n.1268T>C) c.1099T>C (p.Tyr367His) c.931T>C (p.Tyr311His) c.1987T>C (p.Tyr663His) | |
17 | g.42543936T>G | CA399605519 | NAGLU | c.1930T>G (p.Tyr644Asp) c.1268T>G (n.1268T>G) c.1099T>G (p.Tyr367Asp) c.931T>G (p.Tyr311Asp) c.1987T>G (p.Tyr663Asp) | ClinVar dbSNP |
17 | g.42543937A= | CA2260530531 | NAGLU | c.1931A= (p.Tyr644=) c.1269A= (n.1269A=) c.1100A= (p.Tyr367=) c.932A= (p.Tyr311=) c.1988A= (p.Tyr663=) | |
17 | g.42543937A>C | CA399605522 | NAGLU | c.1931A>C (p.Tyr644Ser) c.1269A>C (n.1269A>C) c.1100A>C (p.Tyr367Ser) c.932A>C (p.Tyr311Ser) c.1988A>C (p.Tyr663Ser) | |
17 | g.42543937A>G | CA399605524 | NAGLU | c.1931A>G (p.Tyr644Cys) c.1269A>G (n.1269A>G) c.1100A>G (p.Tyr367Cys) c.932A>G (p.Tyr311Cys) c.1988A>G (p.Tyr663Cys) | dbSNP gnomAD v2 |
17 | g.42543937A>T | CA399605526 | NAGLU | c.1931A>T (p.Tyr644Phe) c.1269A>T (n.1269A>T) c.1100A>T (p.Tyr367Phe) c.932A>T (p.Tyr311Phe) c.1988A>T (p.Tyr663Phe) | |
17 | g.42543938C>A | CA399605529 | NAGLU | c.1932C>A (p.Tyr644Ter) c.1270C>A (n.1270C>A) c.1101C>A (p.Tyr367Ter) c.933C>A (p.Tyr311Ter) c.1989C>A (p.Tyr663Ter) | dbSNP |
17 | g.42543938C= | CA2260530532 | NAGLU | c.1932C= (p.Tyr644=) c.1270C= (n.1270C=) c.1101C= (p.Tyr367=) c.933C= (p.Tyr311=) c.1989C= (p.Tyr663=) | |
17 | g.42543938C>G | CA399605528 | NAGLU | c.1932C>G (p.Tyr644Ter) c.1270C>G (n.1270C>G) c.1101C>G (p.Tyr367Ter) c.933C>G (p.Tyr311Ter) c.1989C>G (p.Tyr663Ter) | ClinVar dbSNP |
17 | g.42543938C>T | CA500218614 | NAGLU | c.1932C>T (p.Tyr644=) c.1270C>T (n.1270C>T) c.1101C>T (p.Tyr367=) c.933C>T (p.Tyr311=) c.1989C>T (p.Tyr663=) | gnomAD v4 |
17 | g.42543939C>A | CA399605530 | NAGLU | c.1933C>A (p.Gln645Lys) c.1271C>A (n.1271C>A) c.1102C>A (p.Gln368Lys) c.934C>A (p.Gln312Lys) c.1990C>A (p.Gln664Lys) | |
17 | g.42543939C= | CA2260530533 | NAGLU | c.1933C= (p.Gln645=) c.1271C= (n.1271C=) c.1102C= (p.Gln368=) c.934C= (p.Gln312=) c.1990C= (p.Gln664=) | |
17 | g.42543939C>G | CA399605532 | NAGLU | c.1933C>G (p.Gln645Glu) c.1271C>G (n.1271C>G) c.1102C>G (p.Gln368Glu) c.934C>G (p.Gln312Glu) c.1990C>G (p.Gln664Glu) | |
17 | g.42543939C>T | CA399605534 | NAGLU | c.1933C>T (p.Gln645Ter) c.1271C>T (n.1271C>T) c.1102C>T (p.Gln368Ter) c.934C>T (p.Gln312Ter) c.1990C>T (p.Gln664Ter) | dbSNP |
17 | g.42543940A= | CA2260530534 | NAGLU | c.1934A= (p.Gln645=) c.1272A= (n.1272A=) c.1103A= (p.Gln368=) c.935A= (p.Gln312=) c.1991A= (p.Gln664=) | |
17 | g.42543940A>C | CA8577124 | NAGLU | c.1934A>C (p.Gln645Pro) c.1272A>C (n.1272A>C) c.1103A>C (p.Gln368Pro) c.935A>C (p.Gln312Pro) c.1991A>C (p.Gln664Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543940A>G | CA399605537 | NAGLU | c.1934A>G (p.Gln645Arg) c.1272A>G (n.1272A>G) c.1103A>G (p.Gln368Arg) c.935A>G (p.Gln312Arg) c.1991A>G (p.Gln664Arg) | |
17 | g.42543940A>T | CA399605539 | NAGLU | c.1934A>T (p.Gln645Leu) c.1272A>T (n.1272A>T) c.1103A>T (p.Gln368Leu) c.935A>T (p.Gln312Leu) c.1991A>T (p.Gln664Leu) | gnomAD v4 |
17 | g.42543941G>A | CA500218632 | NAGLU | c.1935G>A (p.Gln645=) c.1273G>A (n.1273G>A) c.1104G>A (p.Gln368=) c.936G>A (p.Gln312=) c.1992G>A (p.Gln664=) | gnomAD v4 |
17 | g.42543941G>C | CA399605541 | NAGLU | c.1935G>C (p.Gln645His) c.1273G>C (n.1273G>C) c.1104G>C (p.Gln368His) c.936G>C (p.Gln312His) c.1992G>C (p.Gln664His) | dbSNP |
17 | g.42543941G= | CA2260530535 | NAGLU | c.1935G= (p.Gln645=) c.1273G= (n.1273G=) c.1104G= (p.Gln368=) c.936G= (p.Gln312=) c.1992G= (p.Gln664=) | |
17 | g.42543941G>T | CA399605543 | NAGLU | c.1935G>T (p.Gln645His) c.1273G>T (n.1273G>T) c.1104G>T (p.Gln368His) c.936G>T (p.Gln312His) c.1992G>T (p.Gln664His) | gnomAD v4 |
17 | g.42543942C>A | CA399605545 | NAGLU | c.1936C>A (p.Leu646Met) c.1274C>A (n.1274C>A) c.1105C>A (p.Leu369Met) c.937C>A (p.Leu313Met) c.1993C>A (p.Leu665Met) | |
17 | g.42543942C>G | CA399605546 | NAGLU | c.1936C>G (p.Leu646Val) c.1274C>G (n.1274C>G) c.1105C>G (p.Leu369Val) c.937C>G (p.Leu313Val) c.1993C>G (p.Leu665Val) | gnomAD v4 |
17 | g.42543942C>T | CA500218641 | NAGLU | c.1936C>T (p.Leu646=) c.1274C>T (n.1274C>T) c.1105C>T (p.Leu369=) c.937C>T (p.Leu313=) c.1993C>T (p.Leu665=) | |
17 | g.42543943T>A | CA399605549 | NAGLU | c.1937T>A (p.Leu646Gln) c.1275T>A (n.1275T>A) c.1106T>A (p.Leu369Gln) c.938T>A (p.Leu313Gln) c.1994T>A (p.Leu665Gln) | |
17 | g.42543943T>C | CA399605550 | NAGLU | c.1937T>C (p.Leu646Pro) c.1275T>C (n.1275T>C) c.1106T>C (p.Leu369Pro) c.938T>C (p.Leu313Pro) c.1994T>C (p.Leu665Pro) | |
17 | g.42543943T>G | CA399605551 | NAGLU | c.1937T>G (p.Leu646Arg) c.1275T>G (n.1275T>G) c.1106T>G (p.Leu369Arg) c.938T>G (p.Leu313Arg) c.1994T>G (p.Leu665Arg) | |
17 | g.42543944G>A | CA500218652 | NAGLU | c.1938G>A (p.Leu646=) c.1276G>A (n.1276G>A) c.1107G>A (p.Leu369=) c.939G>A (p.Leu313=) c.1995G>A (p.Leu665=) | ClinVar dbSNP |
17 | g.42543944G>C | CA500218657 | NAGLU | c.1938G>C (p.Leu646=) c.1276G>C (n.1276G>C) c.1107G>C (p.Leu369=) c.939G>C (p.Leu313=) c.1995G>C (p.Leu665=) | |
17 | g.42543944G= | CA2260530536 | NAGLU | c.1938G= (p.Leu646=) c.1276G= (n.1276G=) c.1107G= (p.Leu369=) c.939G= (p.Leu313=) c.1995G= (p.Leu665=) | |
17 | g.42543944G>T | CA500218655 | NAGLU | c.1938G>T (p.Leu646=) c.1276G>T (n.1276G>T) c.1107G>T (p.Leu369=) c.939G>T (p.Leu313=) c.1995G>T (p.Leu665=) | |
17 | g.42543945A>C | CA399605555 | NAGLU | c.1939A>C (p.Thr647Pro) c.1277A>C (n.1277A>C) c.1108A>C (p.Thr370Pro) c.940A>C (p.Thr314Pro) c.1996A>C (p.Thr666Pro) | |
17 | g.42543945A>G | CA399605557 | NAGLU | c.1939A>G (p.Thr647Ala) c.1277A>G (n.1277A>G) c.1108A>G (p.Thr370Ala) c.940A>G (p.Thr314Ala) c.1996A>G (p.Thr666Ala) | |
17 | g.42543945A>T | CA399605553 | NAGLU | c.1939A>T (p.Thr647Ser) c.1277A>T (n.1277A>T) c.1108A>T (p.Thr370Ser) c.940A>T (p.Thr314Ser) c.1996A>T (p.Thr666Ser) | |
17 | g.42543946C>A | CA399605563 | NAGLU | c.1940C>A (p.Thr647Asn) c.1278C>A (n.1278C>A) c.1109C>A (p.Thr370Asn) c.941C>A (p.Thr314Asn) c.1997C>A (p.Thr666Asn) | |
17 | g.42543946C= | CA2260530537 | NAGLU | c.1940C= (p.Thr647=) c.1278C= (n.1278C=) c.1109C= (p.Thr370=) c.941C= (p.Thr314=) c.1997C= (p.Thr666=) | |
17 | g.42543946C>G | CA399605559 | NAGLU | c.1940C>G (p.Thr647Ser) c.1278C>G (n.1278C>G) c.1109C>G (p.Thr370Ser) c.941C>G (p.Thr314Ser) c.1997C>G (p.Thr666Ser) | gnomAD v4 |
17 | g.42543946C>T | CA399605561 | NAGLU | c.1940C>T (p.Thr647Ile) c.1278C>T (n.1278C>T) c.1109C>T (p.Thr370Ile) c.941C>T (p.Thr314Ile) c.1997C>T (p.Thr666Ile) | ClinVar dbSNP gnomAD v2 |
17 | g.42543947C>A | CA500218685 | NAGLU | c.1941C>A (p.Thr647=) c.1279C>A (n.1279C>A) c.1110C>A (p.Thr370=) c.942C>A (p.Thr314=) c.1998C>A (p.Thr666=) | ClinVar dbSNP gnomAD v4 |
17 | g.42543947C= | CA2260530538 | NAGLU | c.1941C= (p.Thr647=) c.1279C= (n.1279C=) c.1110C= (p.Thr370=) c.942C= (p.Thr314=) c.1998C= (p.Thr666=) | |
17 | g.42543947C>G | CA500218680 | NAGLU | c.1941C>G (p.Thr647=) c.1279C>G (n.1279C>G) c.1110C>G (p.Thr370=) c.942C>G (p.Thr314=) c.1998C>G (p.Thr666=) | |
17 | g.42543947C>T | CA500218682 | NAGLU | c.1941C>T (p.Thr647=) c.1279C>T (n.1279C>T) c.1110C>T (p.Thr370=) c.942C>T (p.Thr314=) c.1998C>T (p.Thr666=) | |
17 | g.42543948T>A | CA399605565 | NAGLU | c.1942T>A (p.Leu648Met) c.1280T>A (n.1280T>A) c.1111T>A (p.Leu371Met) c.943T>A (p.Leu315Met) c.1999T>A (p.Leu667Met) | |
17 | g.42543948T>C | CA500218693 | NAGLU | c.1942T>C (p.Leu648=) c.1280T>C (n.1280T>C) c.1111T>C (p.Leu371=) c.943T>C (p.Leu315=) c.1999T>C (p.Leu667=) | ClinVar gnomAD v4 |
17 | g.42543948T>G | CA399605567 | NAGLU | c.1942T>G (p.Leu648Val) c.1280T>G (n.1280T>G) c.1111T>G (p.Leu371Val) c.943T>G (p.Leu315Val) c.1999T>G (p.Leu667Val) | gnomAD v4 |
17 | g.42543949T>A | CA399605569 | NAGLU | c.1943T>A (p.Leu648Ter) c.1281T>A (n.1281T>A) c.1112T>A (p.Leu371Ter) c.944T>A (p.Leu315Ter) c.2000T>A (p.Leu667Ter) | |
17 | g.42543949T>C | CA399605571 | NAGLU | c.1943T>C (p.Leu648Ser) c.1281T>C (n.1281T>C) c.1112T>C (p.Leu371Ser) c.944T>C (p.Leu315Ser) c.2000T>C (p.Leu667Ser) | |
17 | g.42543949T>G | CA399605573 | NAGLU | c.1943T>G (p.Leu648Trp) c.1281T>G (n.1281T>G) c.1112T>G (p.Leu371Trp) c.944T>G (p.Leu315Trp) c.2000T>G (p.Leu667Trp) | |
17 | g.42543949T= | CA2260530539 | NAGLU | c.1943T= (p.Leu648=) c.1281T= (n.1281T=) c.1112T= (p.Leu371=) c.944T= (p.Leu315=) c.2000T= (p.Leu667=) | |
17 | g.42543950G>A | CA500218701 | NAGLU | c.1944G>A (p.Leu648=) c.1282G>A (n.1282G>A) c.1113G>A (p.Leu371=) c.945G>A (p.Leu315=) c.2001G>A (p.Leu667=) | gnomAD v4 |
17 | g.42543950G>C | CA399605575 | NAGLU | c.1944G>C (p.Leu648Phe) c.1282G>C (n.1282G>C) c.1113G>C (p.Leu371Phe) c.945G>C (p.Leu315Phe) c.2001G>C (p.Leu667Phe) | |
17 | g.42543950G>T | CA399605577 | NAGLU | c.1944G>T (p.Leu648Phe) c.1282G>T (n.1282G>T) c.1113G>T (p.Leu371Phe) c.945G>T (p.Leu315Phe) c.2001G>T (p.Leu667Phe) | |
17 | g.42543950dup | CA10588946 | NAGLU | c.1944dup (p.Trp649ValfsTer?) c.1282dup (n.1282dup) c.1113dup (p.Trp372ValfsTer?) c.945dup (p.Trp316ValfsTer?) c.2001dup (p.Trp668ValfsTer?) | ClinVar dbSNP |
17 | g.42543951_42543953del | CA2576276094 | NAGLU | c.1945_1947del (p.Trp649del) c.1283_1285del (n.1283_1285del) c.1114_1116del (p.Trp372del) c.946_948del (p.Trp316del) c.2002_2004del (p.Trp668del) | |
17 | g.42543951T>A | CA399605579 | NAGLU | c.1945T>A (p.Trp649Arg) c.1283T>A (n.1283T>A) c.1114T>A (p.Trp372Arg) c.946T>A (p.Trp316Arg) c.2002T>A (p.Trp668Arg) | |
17 | g.42543951T>C | CA399605580 | NAGLU | c.1945T>C (p.Trp649Arg) c.1283T>C (n.1283T>C) c.1114T>C (p.Trp372Arg) c.946T>C (p.Trp316Arg) c.2002T>C (p.Trp668Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543951T>G | CA399605581 | NAGLU | c.1945T>G (p.Trp649Gly) c.1283T>G (n.1283T>G) c.1114T>G (p.Trp372Gly) c.946T>G (p.Trp316Gly) c.2002T>G (p.Trp668Gly) | gnomAD v4 |
17 | g.42543951T= | CA2260530540 | NAGLU | c.1945T= (p.Trp649=) c.1283T= (n.1283T=) c.1114T= (p.Trp372=) c.946T= (p.Trp316=) c.2002T= (p.Trp668=) | |
17 | g.42543951dup | CA2637976274 | NAGLU | c.1945dup (p.Trp649LeufsTer?) c.1283dup (n.1283dup) c.1114dup (p.Trp372LeufsTer?) c.946dup (p.Trp316LeufsTer?) c.2002dup (p.Trp668LeufsTer?) | gnomAD v4 |
17 | g.42543952G>A | CA399605584 | NAGLU | c.1946G>A (p.Trp649Ter) c.1284G>A (n.1284G>A) c.1115G>A (p.Trp372Ter) c.947G>A (p.Trp316Ter) c.2003G>A (p.Trp668Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543952G>C | CA8577125 | NAGLU | c.1946G>C (p.Trp649Ser) c.1284G>C (n.1284G>C) c.1115G>C (p.Trp372Ser) c.947G>C (p.Trp316Ser) c.2003G>C (p.Trp668Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543952G= | CA2260530541 | NAGLU | c.1946G= (p.Trp649=) c.1284G= (n.1284G=) c.1115G= (p.Trp372=) c.947G= (p.Trp316=) c.2003G= (p.Trp668=) | |
17 | g.42543952G>T | CA170085 | NAGLU | c.1946G>T (p.Trp649Leu) c.1284G>T (n.1284G>T) c.1115G>T (p.Trp372Leu) c.947G>T (p.Trp316Leu) c.2003G>T (p.Trp668Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543956dup | CA2838326201 | NAGLU | c.1950dup (p.Pro651AlafsTer?) c.1288dup (n.1288dup) c.1119dup (p.Pro374AlafsTer?) c.951dup (p.Pro318AlafsTer?) c.2007dup (p.Pro670AlafsTer?) | |
17 | g.42543953G>A | CA399605587 | NAGLU | c.1947G>A (p.Trp649Ter) c.1285G>A (n.1285G>A) c.1116G>A (p.Trp372Ter) c.948G>A (p.Trp316Ter) c.2004G>A (p.Trp668Ter) | |
17 | g.42543953G>C | CA399605589 | NAGLU | c.1947G>C (p.Trp649Cys) c.1285G>C (n.1285G>C) c.1116G>C (p.Trp372Cys) c.948G>C (p.Trp316Cys) c.2004G>C (p.Trp668Cys) | gnomAD v4 |
17 | g.42543953G>T | CA399605590 | NAGLU | c.1947G>T (p.Trp649Cys) c.1285G>T (n.1285G>T) c.1116G>T (p.Trp372Cys) c.948G>T (p.Trp316Cys) c.2004G>T (p.Trp668Cys) | |
17 | g.42543954G>A | CA399605591 | NAGLU | c.1948G>A (p.Gly650Arg) c.1286G>A (n.1286G>A) c.1117G>A (p.Gly373Arg) c.949G>A (p.Gly317Arg) c.2005G>A (p.Gly669Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543954G>C | CA399605592 | NAGLU | c.1948G>C (p.Gly650Arg) c.1286G>C (n.1286G>C) c.1117G>C (p.Gly373Arg) c.949G>C (p.Gly317Arg) c.2005G>C (p.Gly669Arg) | |
17 | g.42543954G= | CA2260530542 | NAGLU | c.1948G= (p.Gly650=) c.1286G= (n.1286G=) c.1117G= (p.Gly373=) c.949G= (p.Gly317=) c.2005G= (p.Gly669=) | |
17 | g.42543954G>T | CA399605594 | NAGLU | c.1948G>T (p.Gly650Trp) c.1286G>T (n.1286G>T) c.1117G>T (p.Gly373Trp) c.949G>T (p.Gly317Trp) c.2005G>T (p.Gly669Trp) | |
17 | g.42543956_42543964del | CA2637976277 | NAGLU | c.1950_1958del (p.Pro651_Gly653del) c.1288_1296del (n.1288_1296del) c.1119_1127del (p.Pro374_Gly376del) c.951_959del (p.Pro318_Gly320del) c.2007_2015del (p.Pro670_Gly672del) | gnomAD v4 |
17 | g.42543955G>A | CA170087 | NAGLU | c.1949G>A (p.Gly650Glu) c.1287G>A (n.1287G>A) c.1118G>A (p.Gly373Glu) c.950G>A (p.Gly317Glu) c.2006G>A (p.Gly669Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543955G>C | CA399605596 | NAGLU | c.1949G>C (p.Gly650Ala) c.1287G>C (n.1287G>C) c.1118G>C (p.Gly373Ala) c.950G>C (p.Gly317Ala) c.2006G>C (p.Gly669Ala) | |
17 | g.42543955G= | CA2260530543 | NAGLU | c.1949G= (p.Gly650=) c.1287G= (n.1287G=) c.1118G= (p.Gly373=) c.950G= (p.Gly317=) c.2006G= (p.Gly669=) | |
17 | g.42543955G>T | CA399605598 | NAGLU | c.1949G>T (p.Gly650Val) c.1287G>T (n.1287G>T) c.1118G>T (p.Gly373Val) c.950G>T (p.Gly317Val) c.2006G>T (p.Gly669Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543956G>A | CA500218758 | NAGLU | c.1950G>A (p.Gly650=) c.1288G>A (n.1288G>A) c.1119G>A (p.Gly373=) c.951G>A (p.Gly317=) c.2007G>A (p.Gly669=) | ClinVar dbSNP gnomAD v4 |
17 | g.42543956G>C | CA500218763 | NAGLU | c.1950G>C (p.Gly650=) c.1288G>C (n.1288G>C) c.1119G>C (p.Gly373=) c.951G>C (p.Gly317=) c.2007G>C (p.Gly669=) | |
17 | g.42543956G= | CA2260530544 | NAGLU | c.1950G= (p.Gly650=) c.1288G= (n.1288G=) c.1119G= (p.Gly373=) c.951G= (p.Gly317=) c.2007G= (p.Gly669=) | |
17 | g.42543956G>T | CA500218760 | NAGLU | c.1950G>T (p.Gly650=) c.1288G>T (n.1288G>T) c.1119G>T (p.Gly373=) c.951G>T (p.Gly317=) c.2007G>T (p.Gly669=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543957_42543960dup | CA2695225869 | NAGLU | c.1951_1954dup (p.Glu652AlafsTer?) c.1289_1292dup (n.1289_1292dup) c.1120_1123dup (p.Glu375AlafsTer?) c.952_955dup (p.Glu319AlafsTer?) c.2008_2011dup (p.Glu671AlafsTer?) | |
17 | g.42543957C>A | CA399605600 | NAGLU | c.1951C>A (p.Pro651Thr) c.1289C>A (n.1289C>A) c.1120C>A (p.Pro374Thr) c.952C>A (p.Pro318Thr) c.2008C>A (p.Pro670Thr) | |
17 | g.42543957C>G | CA399605602 | NAGLU | c.1951C>G (p.Pro651Ala) c.1289C>G (n.1289C>G) c.1120C>G (p.Pro374Ala) c.952C>G (p.Pro318Ala) c.2008C>G (p.Pro670Ala) | |
17 | g.42543957C>T | CA399605603 | NAGLU | c.1951C>T (p.Pro651Ser) c.1289C>T (n.1289C>T) c.1120C>T (p.Pro374Ser) c.952C>T (p.Pro318Ser) c.2008C>T (p.Pro670Ser) | gnomAD v4 |
17 | g.42543958C>A | CA399605607 | NAGLU | c.1952C>A (p.Pro651Gln) c.1290C>A (n.1290C>A) c.1121C>A (p.Pro374Gln) c.953C>A (p.Pro318Gln) c.2009C>A (p.Pro670Gln) | |
17 | g.42543958C>G | CA399605606 | NAGLU | c.1952C>G (p.Pro651Arg) c.1290C>G (n.1290C>G) c.1121C>G (p.Pro374Arg) c.953C>G (p.Pro318Arg) c.2009C>G (p.Pro670Arg) | |
17 | g.42543958C>T | CA399605604 | NAGLU | c.1952C>T (p.Pro651Leu) c.1290C>T (n.1290C>T) c.1121C>T (p.Pro374Leu) c.953C>T (p.Pro318Leu) c.2009C>T (p.Pro670Leu) | gnomAD v4 |
17 | g.42543959A>C | CA500218782 | NAGLU | c.1953A>C (p.Pro651=) c.1291A>C (n.1291A>C) c.1122A>C (p.Pro374=) c.954A>C (p.Pro318=) c.2010A>C (p.Pro670=) | |
17 | g.42543959A>G | CA500218779 | NAGLU | c.1953A>G (p.Pro651=) c.1291A>G (n.1291A>G) c.1122A>G (p.Pro374=) c.954A>G (p.Pro318=) c.2010A>G (p.Pro670=) | |
17 | g.42543959A>T | CA500218783 | NAGLU | c.1953A>T (p.Pro651=) c.1291A>T (n.1291A>T) c.1122A>T (p.Pro374=) c.954A>T (p.Pro318=) c.2010A>T (p.Pro670=) | |
17 | g.42543960G>A | CA399605609 | NAGLU | c.1954G>A (p.Glu652Lys) c.1292G>A (n.1292G>A) c.1123G>A (p.Glu375Lys) c.955G>A (p.Glu319Lys) c.2011G>A (p.Glu671Lys) | dbSNP |
17 | g.42543960G>C | CA399605611 | NAGLU | c.1954G>C (p.Glu652Gln) c.1292G>C (n.1292G>C) c.1123G>C (p.Glu375Gln) c.955G>C (p.Glu319Gln) c.2011G>C (p.Glu671Gln) | gnomAD v4 |
17 | g.42543960G= | CA2260530545 | NAGLU | c.1954G= (p.Glu652=) c.1292G= (n.1292G=) c.1123G= (p.Glu375=) c.955G= (p.Glu319=) c.2011G= (p.Glu671=) | |
17 | g.42543960G>T | CA399605613 | NAGLU | c.1954G>T (p.Glu652Ter) c.1292G>T (n.1292G>T) c.1123G>T (p.Glu375Ter) c.955G>T (p.Glu319Ter) c.2011G>T (p.Glu671Ter) | |
17 | g.42543961A>C | CA399605615 | NAGLU | c.1955A>C (p.Glu652Ala) c.1293A>C (n.1293A>C) c.1124A>C (p.Glu375Ala) c.956A>C (p.Glu319Ala) c.2012A>C (p.Glu671Ala) | |
17 | g.42543961A>G | CA399605617 | NAGLU | c.1955A>G (p.Glu652Gly) c.1293A>G (n.1293A>G) c.1124A>G (p.Glu375Gly) c.956A>G (p.Glu319Gly) c.2012A>G (p.Glu671Gly) | gnomAD v4 |
17 | g.42543961A>T | CA399605619 | NAGLU | c.1955A>T (p.Glu652Val) c.1293A>T (n.1293A>T) c.1124A>T (p.Glu375Val) c.956A>T (p.Glu319Val) c.2012A>T (p.Glu671Val) | gnomAD v4 |
17 | g.42543962A= | CA2260530546 | NAGLU | c.1956A= (p.Glu652=) c.1294A= (n.1294A=) c.1125A= (p.Glu375=) c.957A= (p.Glu319=) c.2013A= (p.Glu671=) | |
17 | g.42543962A>C | CA399605623 | NAGLU | c.1956A>C (p.Glu652Asp) c.1294A>C (n.1294A>C) c.1125A>C (p.Glu375Asp) c.957A>C (p.Glu319Asp) c.2013A>C (p.Glu671Asp) | |
17 | g.42543962A>G | CA500218796 | NAGLU | c.1956A>G (p.Glu652=) c.1294A>G (n.1294A>G) c.1125A>G (p.Glu375=) c.957A>G (p.Glu319=) c.2013A>G (p.Glu671=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543962A>T | CA399605621 | NAGLU | c.1956A>T (p.Glu652Asp) c.1294A>T (n.1294A>T) c.1125A>T (p.Glu375Asp) c.957A>T (p.Glu319Asp) c.2013A>T (p.Glu671Asp) | |
17 | g.42543963G>A | CA399605625 | NAGLU | c.1957G>A (p.Gly653Ser) c.1295G>A (n.1295G>A) c.1126G>A (p.Gly376Ser) c.958G>A (p.Gly320Ser) c.2014G>A (p.Gly672Ser) | |
17 | g.42543963G>C | CA399605626 | NAGLU | c.1957G>C (p.Gly653Arg) c.1295G>C (n.1295G>C) c.1126G>C (p.Gly376Arg) c.958G>C (p.Gly320Arg) c.2014G>C (p.Gly672Arg) | |
17 | g.42543963G>T | CA399605628 | NAGLU | c.1957G>T (p.Gly653Cys) c.1295G>T (n.1295G>T) c.1126G>T (p.Gly376Cys) c.958G>T (p.Gly320Cys) c.2014G>T (p.Gly672Cys) | |
17 | g.42543964G>A | CA399605630 | NAGLU | c.1958G>A (p.Gly653Asp) c.1296G>A (n.1296G>A) c.1127G>A (p.Gly376Asp) c.959G>A (p.Gly320Asp) c.2015G>A (p.Gly672Asp) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543964G>C | CA399605632 | NAGLU | c.1958G>C (p.Gly653Ala) c.1296G>C (n.1296G>C) c.1127G>C (p.Gly376Ala) c.959G>C (p.Gly320Ala) c.2015G>C (p.Gly672Ala) | |
17 | g.42543964G= | CA2260530547 | NAGLU | c.1958G= (p.Gly653=) c.1296G= (n.1296G=) c.1127G= (p.Gly376=) c.959G= (p.Gly320=) c.2015G= (p.Gly672=) | |
17 | g.42543964G>T | CA399605634 | NAGLU | c.1958G>T (p.Gly653Val) c.1296G>T (n.1296G>T) c.1127G>T (p.Gly376Val) c.959G>T (p.Gly320Val) c.2015G>T (p.Gly672Val) | |
17 | g.42543965C>A | CA500217065 | NAGLU | c.1959C>A (p.Gly653=) c.1297C>A (n.1297C>A) c.1128C>A (p.Gly376=) c.960C>A (p.Gly320=) c.2016C>A (p.Gly672=) | |
17 | g.42543965C= | CA2260530548 | NAGLU | c.1959C= (p.Gly653=) c.1297C= (n.1297C=) c.1128C= (p.Gly376=) c.960C= (p.Gly320=) c.2016C= (p.Gly672=) | |
17 | g.42543965C>G | CA500217064 | NAGLU | c.1959C>G (p.Gly653=) c.1297C>G (n.1297C>G) c.1128C>G (p.Gly376=) c.960C>G (p.Gly320=) c.2016C>G (p.Gly672=) | |
17 | g.42543965C>T | CA500217066 | NAGLU | c.1959C>T (p.Gly653=) c.1297C>T (n.1297C>T) c.1128C>T (p.Gly376=) c.960C>T (p.Gly320=) c.2016C>T (p.Gly672=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543966A>C | CA399605636 | NAGLU | c.1960A>C (p.Asn654His) c.1298A>C (n.1298A>C) c.1129A>C (p.Asn377His) c.961A>C (p.Asn321His) c.2017A>C (p.Asn673His) | |
17 | g.42543966A>G | CA399605640 | NAGLU | c.1960A>G (p.Asn654Asp) c.1298A>G (n.1298A>G) c.1129A>G (p.Asn377Asp) c.961A>G (p.Asn321Asp) c.2017A>G (p.Asn673Asp) | |
17 | g.42543966A>T | CA399605637 | NAGLU | c.1960A>T (p.Asn654Tyr) c.1298A>T (n.1298A>T) c.1129A>T (p.Asn377Tyr) c.961A>T (p.Asn321Tyr) c.2017A>T (p.Asn673Tyr) | |
17 | g.42543967A>C | CA399605642 | NAGLU | c.1961A>C (p.Asn654Thr) c.1299A>C (n.1299A>C) c.1130A>C (p.Asn377Thr) c.962A>C (p.Asn321Thr) c.2018A>C (p.Asn673Thr) | |
17 | g.42543967A>G | CA399605643 | NAGLU | c.1961A>G (p.Asn654Ser) c.1299A>G (n.1299A>G) c.1130A>G (p.Asn377Ser) c.962A>G (p.Asn321Ser) c.2018A>G (p.Asn673Ser) | |
17 | g.42543967A>T | CA399605645 | NAGLU | c.1961A>T (p.Asn654Ile) c.1299A>T (n.1299A>T) c.1130A>T (p.Asn377Ile) c.962A>T (p.Asn321Ile) c.2018A>T (p.Asn673Ile) | |
17 | g.42543968C>A | CA399605648 | NAGLU | c.1962C>A (p.Asn654Lys) c.1300C>A (n.1300C>A) c.1131C>A (p.Asn377Lys) c.963C>A (p.Asn321Lys) c.2019C>A (p.Asn673Lys) | |
17 | g.42543968C>G | CA399605649 | NAGLU | c.1962C>G (p.Asn654Lys) c.1300C>G (n.1300C>G) c.1131C>G (p.Asn377Lys) c.963C>G (p.Asn321Lys) c.2019C>G (p.Asn673Lys) | |
17 | g.42543968C>T | CA500217068 | NAGLU | c.1962C>T (p.Asn654=) c.1300C>T (n.1300C>T) c.1131C>T (p.Asn377=) c.963C>T (p.Asn321=) c.2019C>T (p.Asn673=) | |
17 | g.42543969A>C | CA399605651 | NAGLU | c.1963A>C (p.Ile655Leu) c.1301A>C (n.1301A>C) c.1132A>C (p.Ile378Leu) c.964A>C (p.Ile322Leu) c.2020A>C (p.Ile674Leu) | |
17 | g.42543969A>G | CA399605652 | NAGLU | c.1963A>G (p.Ile655Val) c.1301A>G (n.1301A>G) c.1132A>G (p.Ile378Val) c.964A>G (p.Ile322Val) c.2020A>G (p.Ile674Val) | |
17 | g.42543969A>T | CA399605655 | NAGLU | c.1963A>T (p.Ile655Phe) c.1301A>T (n.1301A>T) c.1132A>T (p.Ile378Phe) c.964A>T (p.Ile322Phe) c.2020A>T (p.Ile674Phe) | |
17 | g.42543970T>A | CA399605656 | NAGLU | c.1964T>A (p.Ile655Asn) c.1302T>A (n.1302T>A) c.1133T>A (p.Ile378Asn) c.965T>A (p.Ile322Asn) c.2021T>A (p.Ile674Asn) | |
17 | g.42543970T>C | CA399605658 | NAGLU | c.1964T>C (p.Ile655Thr) c.1302T>C (n.1302T>C) c.1133T>C (p.Ile378Thr) c.965T>C (p.Ile322Thr) c.2021T>C (p.Ile674Thr) | |
17 | g.42543970T>G | CA399605660 | NAGLU | c.1964T>G (p.Ile655Ser) c.1302T>G (n.1302T>G) c.1133T>G (p.Ile378Ser) c.965T>G (p.Ile322Ser) c.2021T>G (p.Ile674Ser) | |
17 | g.42543971C>A | CA500217074 | NAGLU | c.1965C>A (p.Ile655=) c.1303C>A (n.1303C>A) c.1134C>A (p.Ile378=) c.966C>A (p.Ile322=) c.2022C>A (p.Ile674=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543971C= | CA2260530549 | NAGLU | c.1965C= (p.Ile655=) c.1303C= (n.1303C=) c.1134C= (p.Ile378=) c.966C= (p.Ile322=) c.2022C= (p.Ile674=) | |
17 | g.42543971C>G | CA399605662 | NAGLU | c.1965C>G (p.Ile655Met) c.1303C>G (n.1303C>G) c.1134C>G (p.Ile378Met) c.966C>G (p.Ile322Met) c.2022C>G (p.Ile674Met) | |
17 | g.42543971C>T | CA500217073 | NAGLU | c.1965C>T (p.Ile655=) c.1303C>T (n.1303C>T) c.1134C>T (p.Ile378=) c.966C>T (p.Ile322=) c.2022C>T (p.Ile674=) | COSMIC |
17 | g.42543972C>A | CA399605666 | NAGLU | c.1966C>A (p.Leu656Met) c.1304C>A (n.1304C>A) c.1135C>A (p.Leu379Met) c.967C>A (p.Leu323Met) c.2023C>A (p.Leu675Met) | gnomAD v4 |
17 | g.42543972C>G | CA399605664 | NAGLU | c.1966C>G (p.Leu656Val) c.1304C>G (n.1304C>G) c.1135C>G (p.Leu379Val) c.967C>G (p.Leu323Val) c.2023C>G (p.Leu675Val) | |
17 | g.42543972C>T | CA500217075 | NAGLU | c.1966C>T (p.Leu656=) c.1304C>T (n.1304C>T) c.1135C>T (p.Leu379=) c.967C>T (p.Leu323=) c.2023C>T (p.Leu675=) | ClinVar |
17 | g.42543973T>A | CA399605668 | NAGLU | c.1967T>A (p.Leu656Gln) c.1305T>A (n.1305T>A) c.1136T>A (p.Leu379Gln) c.968T>A (p.Leu323Gln) c.2024T>A (p.Leu675Gln) | |
17 | g.42543973T>C | CA399605672 | NAGLU | c.1967T>C (p.Leu656Pro) c.1305T>C (n.1305T>C) c.1136T>C (p.Leu379Pro) c.968T>C (p.Leu323Pro) c.2024T>C (p.Leu675Pro) | ClinVar dbSNP |
17 | g.42543973T>G | CA399605670 | NAGLU | c.1967T>G (p.Leu656Arg) c.1305T>G (n.1305T>G) c.1136T>G (p.Leu379Arg) c.968T>G (p.Leu323Arg) c.2024T>G (p.Leu675Arg) | |
17 | g.42543973T= | CA2260530550 | NAGLU | c.1967T= (p.Leu656=) c.1305T= (n.1305T=) c.1136T= (p.Leu379=) c.968T= (p.Leu323=) c.2024T= (p.Leu675=) | |
17 | g.42543974G>A | CA500217079 | NAGLU | c.1968G>A (p.Leu656=) c.1306G>A (n.1306G>A) c.1137G>A (p.Leu379=) c.969G>A (p.Leu323=) c.2025G>A (p.Leu675=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543974G>C | CA500217080 | NAGLU | c.1968G>C (p.Leu656=) c.1306G>C (n.1306G>C) c.1137G>C (p.Leu379=) c.969G>C (p.Leu323=) c.2025G>C (p.Leu675=) | |
17 | g.42543974G= | CA2260530551 | NAGLU | c.1968G= (p.Leu656=) c.1306G= (n.1306G=) c.1137G= (p.Leu379=) c.969G= (p.Leu323=) c.2025G= (p.Leu675=) | |
17 | g.42543974G>T | CA500217078 | NAGLU | c.1968G>T (p.Leu656=) c.1306G>T (n.1306G>T) c.1137G>T (p.Leu379=) c.969G>T (p.Leu323=) c.2025G>T (p.Leu675=) |