Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.48904529_48904813delinsCCTCCCG | CA2573055342 | SLC35A2 | c.1096_1163+217delinsCGGGAGG c.434_*61delinsCGGGAGG (n.[c.434_*61delinsCGGGAGG;Arg145ProfsTer?]) c.1096_*198delinsCGGGAGG (n.[c.1096_*198delinsCGGGAGG;Gly366ArgfsTer11]) c.506_573+217delinsCGGGAGG c.658_942delinsCGGGAGG c.506_*61delinsCGGGAGG (n.[c.506_*61delinsCGGGAGG;Arg169ProfsTer?]) c.1180_*198delinsCGGGAGG (n.[c.1180_*198delinsCGGGAGG;Gly394ArgfsTer11]) c.1135_*198delinsCGGGAGG (n.[c.1135_*198delinsCGGGAGG;Gly379ArgfsTer11]) c.425-1348_425-1064delinsCGGGAGG c.913_*198delinsCGGGAGG (n.[c.913_*198delinsCGGGAGG;Gly305ArgfsTer11]) c.*990_*1274delinsCGGGAGG (n.*990_*1274delinsCGGGAGG) | ClinVar dbSNP |
X | g.48904761T>A | CA412893984 | SLC35A2 | c.1148A>T (p.Glu383Val) c.486A>T (p.Gly162=) c.558A>T (p.Gly186=) c.710A>T c.1232A>T (p.Glu411Val) c.1187A>T (p.Glu396Val) c.425-1296A>T c.965A>T (p.Glu322Val) c.*1042A>T (n.*1042A>T) | |
X | g.48904761T>C | CA412893985 | SLC35A2 | c.1148A>G (p.Glu383Gly) c.486A>G (p.Gly162=) c.558A>G (p.Gly186=) c.710A>G c.1232A>G (p.Glu411Gly) c.1187A>G (p.Glu396Gly) c.425-1296A>G c.965A>G (p.Glu322Gly) c.*1042A>G (n.*1042A>G) | |
X | g.48904761T>G | CA412893986 | SLC35A2 | c.1148A>C (p.Glu383Ala) c.486A>C (p.Gly162=) c.558A>C (p.Gly186=) c.710A>C c.1232A>C (p.Glu411Ala) c.1187A>C (p.Glu396Ala) c.425-1296A>C c.965A>C (p.Glu322Ala) c.*1042A>C (n.*1042A>C) | |
X | g.48904762C>A | CA412893987 | SLC35A2 | c.1147G>T (p.Glu383Ter) c.485G>T (p.Gly162Val) c.557G>T (p.Gly186Val) c.709G>T c.1231G>T (p.Glu411Ter) c.1186G>T (p.Glu396Ter) c.425-1297G>T c.964G>T (p.Glu322Ter) c.*1041G>T (n.*1041G>T) | |
X | g.48904762C>G | CA412893988 | SLC35A2 | c.1147G>C (p.Glu383Gln) c.485G>C (p.Gly162Ala) c.557G>C (p.Gly186Ala) c.709G>C c.1231G>C (p.Glu411Gln) c.1186G>C (p.Glu396Gln) c.425-1297G>C c.964G>C (p.Glu322Gln) c.*1041G>C (n.*1041G>C) | |
X | g.48904762C>T | CA412893989 | SLC35A2 | c.1147G>A (p.Glu383Lys) c.485G>A (p.Gly162Glu) c.557G>A (p.Gly186Glu) c.709G>A c.1231G>A (p.Glu411Lys) c.1186G>A (p.Glu396Lys) c.425-1297G>A c.964G>A (p.Glu322Lys) c.*1041G>A (n.*1041G>A) | ClinVar gnomAD v4 |
X | g.48904763C>A | CA412893990 | SLC35A2 | c.1146G>T (p.Thr382=) c.484G>T (p.Gly162Ter) c.556G>T (p.Gly186Ter) c.708G>T c.1230G>T (p.Thr410=) c.1185G>T (p.Thr395=) c.425-1298G>T c.963G>T (p.Thr321=) c.*1040G>T (n.*1040G>T) | |
X | g.48904763C= | CA2428428764 | SLC35A2 | c.1146G= (p.Thr382=) c.484G= (p.Gly162=) c.556G= (p.Gly186=) c.708G= c.1230G= (p.Thr410=) c.1185G= (p.Thr395=) c.425-1298G= c.963G= (p.Thr321=) c.*1040G= (n.*1040G=) | |
X | g.48904763C>G | CA412893991 | SLC35A2 | c.1146G>C (p.Thr382=) c.484G>C (p.Gly162Arg) c.556G>C (p.Gly186Arg) c.708G>C c.1230G>C (p.Thr410=) c.1185G>C (p.Thr395=) c.425-1298G>C c.963G>C (p.Thr321=) c.*1040G>C (n.*1040G>C) | gnomAD v4 |
X | g.48904763C>T | CA10406047 | SLC35A2 | c.1146G>A (p.Thr382=) c.484G>A (p.Gly162Arg) c.556G>A (p.Gly186Arg) c.708G>A c.1230G>A (p.Thr410=) c.1185G>A (p.Thr395=) c.425-1298G>A c.963G>A (p.Thr321=) c.*1040G>A (n.*1040G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904764G>A | CA10406048 | SLC35A2 | c.1145C>T (p.Thr382Met) c.483C>T (p.His161=) c.555C>T (p.His185=) c.707C>T c.1229C>T (p.Thr410Met) c.1184C>T (p.Thr395Met) c.425-1299C>T c.962C>T (p.Thr321Met) c.*1039C>T (n.*1039C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904764G>C | CA412893992 | SLC35A2 | c.1145C>G (p.Thr382Arg) c.483C>G (p.His161Gln) c.555C>G (p.His185Gln) c.707C>G c.1229C>G (p.Thr410Arg) c.1184C>G (p.Thr395Arg) c.425-1299C>G c.962C>G (p.Thr321Arg) c.*1039C>G (n.*1039C>G) | |
X | g.48904764G= | CA2428428765 | SLC35A2 | c.1145C= (p.Thr382=) c.483C= (p.His161=) c.555C= (p.His185=) c.707C= c.1229C= (p.Thr410=) c.1184C= (p.Thr395=) c.425-1299C= c.962C= (p.Thr321=) c.*1039C= (n.*1039C=) | |
X | g.48904764G>T | CA412893993 | SLC35A2 | c.1145C>A (p.Thr382Lys) c.483C>A (p.His161Gln) c.555C>A (p.His185Gln) c.707C>A c.1229C>A (p.Thr410Lys) c.1184C>A (p.Thr395Lys) c.425-1299C>A c.962C>A (p.Thr321Lys) c.*1039C>A (n.*1039C>A) | |
X | g.48904765T>A | CA412893994 | SLC35A2 | c.1144A>T (p.Thr382Ser) c.482A>T (p.His161Leu) c.554A>T (p.His185Leu) c.706A>T c.1228A>T (p.Thr410Ser) c.1183A>T (p.Thr395Ser) c.425-1300A>T c.961A>T (p.Thr321Ser) c.*1038A>T (n.*1038A>T) | |
X | g.48904765T>C | CA412893995 | SLC35A2 | c.1144A>G (p.Thr382Ala) c.482A>G (p.His161Arg) c.554A>G (p.His185Arg) c.706A>G c.1228A>G (p.Thr410Ala) c.1183A>G (p.Thr395Ala) c.425-1300A>G c.961A>G (p.Thr321Ala) c.*1038A>G (n.*1038A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48904765T>G | CA412893996 | SLC35A2 | c.1144A>C (p.Thr382Pro) c.482A>C (p.His161Pro) c.554A>C (p.His185Pro) c.706A>C c.1228A>C (p.Thr410Pro) c.1183A>C (p.Thr395Pro) c.425-1300A>C c.961A>C (p.Thr321Pro) c.*1038A>C (n.*1038A>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904765T= | CA2428428766 | SLC35A2 | c.1144A= (p.Thr382=) c.482A= (p.His161=) c.554A= (p.His185=) c.706A= c.1228A= (p.Thr410=) c.1183A= (p.Thr395=) c.425-1300A= c.961A= (p.Thr321=) c.*1038A= (n.*1038A=) | |
X | g.48904766G>A | CA412893997 | SLC35A2 | c.1143C>T (p.Ile381=) c.481C>T (p.His161Tyr) c.553C>T (p.His185Tyr) c.705C>T c.1227C>T (p.Ile409=) c.1182C>T (p.Ile394=) c.425-1301C>T c.960C>T (p.Ile320=) c.*1037C>T (n.*1037C>T) | |
X | g.48904766G>C | CA412893998 | SLC35A2 | c.1143C>G (p.Ile381Met) c.481C>G (p.His161Asp) c.553C>G (p.His185Asp) c.705C>G c.1227C>G (p.Ile409Met) c.1182C>G (p.Ile394Met) c.425-1301C>G c.960C>G (p.Ile320Met) c.*1037C>G (n.*1037C>G) | |
X | g.48904766G>T | CA412893999 | SLC35A2 | c.1143C>A (p.Ile381=) c.481C>A (p.His161Asn) c.553C>A (p.His185Asn) c.705C>A c.1227C>A (p.Ile409=) c.1182C>A (p.Ile394=) c.425-1301C>A c.960C>A (p.Ile320=) c.*1037C>A (n.*1037C>A) | |
X | g.48904767A>C | CA412894000 | SLC35A2 | c.1142T>G (p.Ile381Ser) c.480T>G (p.His160Gln) c.552T>G (p.His184Gln) c.704T>G c.1226T>G (p.Ile409Ser) c.1181T>G (p.Ile394Ser) c.425-1302T>G c.959T>G (p.Ile320Ser) c.*1036T>G (n.*1036T>G) | |
X | g.48904767A>G | CA412894001 | SLC35A2 | c.1142T>C (p.Ile381Thr) c.480T>C (p.His160=) c.552T>C (p.His184=) c.704T>C c.1226T>C (p.Ile409Thr) c.1181T>C (p.Ile394Thr) c.425-1302T>C c.959T>C (p.Ile320Thr) c.*1036T>C (n.*1036T>C) | |
X | g.48904767A>T | CA412894002 | SLC35A2 | c.1142T>A (p.Ile381Asn) c.480T>A (p.His160Gln) c.552T>A (p.His184Gln) c.704T>A c.1226T>A (p.Ile409Asn) c.1181T>A (p.Ile394Asn) c.425-1302T>A c.959T>A (p.Ile320Asn) c.*1036T>A (n.*1036T>A) | |
X | g.48904768T>A | CA412894005 | SLC35A2 | c.1141A>T (p.Ile381Phe) c.479A>T (p.His160Leu) c.551A>T (p.His184Leu) c.703A>T c.1225A>T (p.Ile409Phe) c.1180A>T (p.Ile394Phe) c.425-1303A>T c.958A>T (p.Ile320Phe) c.*1035A>T (n.*1035A>T) | |
X | g.48904768T>C | CA412894004 | SLC35A2 | c.1141A>G (p.Ile381Val) c.479A>G (p.His160Arg) c.551A>G (p.His184Arg) c.703A>G c.1225A>G (p.Ile409Val) c.1180A>G (p.Ile394Val) c.425-1303A>G c.958A>G (p.Ile320Val) c.*1035A>G (n.*1035A>G) | COSMIC COSMIC COSMIC COSMIC |
X | g.48904768T>G | CA412894003 | SLC35A2 | c.1141A>C (p.Ile381Leu) c.479A>C (p.His160Pro) c.551A>C (p.His184Pro) c.703A>C c.1225A>C (p.Ile409Leu) c.1180A>C (p.Ile394Leu) c.425-1303A>C c.958A>C (p.Ile320Leu) c.*1035A>C (n.*1035A>C) | |
X | g.48904769G>A | CA412894006 | SLC35A2 | c.1140C>T (p.Leu380=) c.478C>T (p.His160Tyr) c.550C>T (p.His184Tyr) c.702C>T c.1224C>T (p.Leu408=) c.1179C>T (p.Leu393=) c.425-1304C>T c.957C>T (p.Leu319=) c.*1034C>T (n.*1034C>T) | |
X | g.48904769G>C | CA412894007 | SLC35A2 | c.1140C>G (p.Leu380=) c.478C>G (p.His160Asp) c.550C>G (p.His184Asp) c.702C>G c.1224C>G (p.Leu408=) c.1179C>G (p.Leu393=) c.425-1304C>G c.957C>G (p.Leu319=) c.*1034C>G (n.*1034C>G) | |
X | g.48904769G>T | CA412894008 | SLC35A2 | c.1140C>A (p.Leu380=) c.478C>A (p.His160Asn) c.550C>A (p.His184Asn) c.702C>A c.1224C>A (p.Leu408=) c.1179C>A (p.Leu393=) c.425-1304C>A c.957C>A (p.Leu319=) c.*1034C>A (n.*1034C>A) | gnomAD v4 |
X | g.48904770A>C | CA412894009 | SLC35A2 | c.1139T>G (p.Leu380Arg) c.477T>G (p.Pro159=) c.549T>G (p.Pro183=) c.701T>G c.1223T>G (p.Leu408Arg) c.1178T>G (p.Leu393Arg) c.425-1305T>G c.956T>G (p.Leu319Arg) c.*1033T>G (n.*1033T>G) | |
X | g.48904770A>G | CA412894010 | SLC35A2 | c.1139T>C (p.Leu380Pro) c.477T>C (p.Pro159=) c.549T>C (p.Pro183=) c.701T>C c.1223T>C (p.Leu408Pro) c.1178T>C (p.Leu393Pro) c.425-1305T>C c.956T>C (p.Leu319Pro) c.*1033T>C (n.*1033T>C) | |
X | g.48904770A>T | CA412894011 | SLC35A2 | c.1139T>A (p.Leu380His) c.477T>A (p.Pro159=) c.549T>A (p.Pro183=) c.701T>A c.1223T>A (p.Leu408His) c.1178T>A (p.Leu393His) c.425-1305T>A c.956T>A (p.Leu319His) c.*1033T>A (n.*1033T>A) | |
X | g.48904771G>A | CA412894012 | SLC35A2 | c.1138C>T (p.Leu380Phe) c.476C>T (p.Pro159Leu) c.548C>T (p.Pro183Leu) c.700C>T c.1222C>T (p.Leu408Phe) c.1177C>T (p.Leu393Phe) c.425-1306C>T c.955C>T (p.Leu319Phe) c.*1032C>T (n.*1032C>T) | |
X | g.48904771G>C | CA10406049 | SLC35A2 | c.1138C>G (p.Leu380Val) c.476C>G (p.Pro159Arg) c.548C>G (p.Pro183Arg) c.700C>G c.1222C>G (p.Leu408Val) c.1177C>G (p.Leu393Val) c.425-1306C>G c.955C>G (p.Leu319Val) c.*1032C>G (n.*1032C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48904771G= | CA2428428767 | SLC35A2 | c.1138C= (p.Leu380=) c.476C= (p.Pro159=) c.548C= (p.Pro183=) c.700C= c.1222C= (p.Leu408=) c.1177C= (p.Leu393=) c.425-1306C= c.955C= (p.Leu319=) c.*1032C= (n.*1032C=) | |
X | g.48904771G>T | CA412894013 | SLC35A2 | c.1138C>A (p.Leu380Ile) c.476C>A (p.Pro159His) c.548C>A (p.Pro183His) c.700C>A c.1222C>A (p.Leu408Ile) c.1177C>A (p.Leu393Ile) c.425-1306C>A c.955C>A (p.Leu319Ile) c.*1032C>A (n.*1032C>A) | |
X | g.48904772G>A | CA412894014 | SLC35A2 | c.1137C>T (p.Asp379=) c.475C>T (p.Pro159Ser) c.547C>T (p.Pro183Ser) c.699C>T c.1221C>T (p.Asp407=) c.1176C>T (p.Asp392=) c.425-1307C>T c.954C>T (p.Asp318=) c.*1031C>T (n.*1031C>T) | gnomAD v4 |
X | g.48904772G>C | CA412894015 | SLC35A2 | c.1137C>G (p.Asp379Glu) c.475C>G (p.Pro159Ala) c.547C>G (p.Pro183Ala) c.699C>G c.1221C>G (p.Asp407Glu) c.1176C>G (p.Asp392Glu) c.425-1307C>G c.954C>G (p.Asp318Glu) c.*1031C>G (n.*1031C>G) | |
X | g.48904772G>T | CA412894016 | SLC35A2 | c.1137C>A (p.Asp379Glu) c.475C>A (p.Pro159Thr) c.547C>A (p.Pro183Thr) c.699C>A c.1221C>A (p.Asp407Glu) c.1176C>A (p.Asp392Glu) c.425-1307C>A c.954C>A (p.Asp318Glu) c.*1031C>A (n.*1031C>A) | |
X | g.48904773T>A | CA412894019 | SLC35A2 | c.1136A>T (p.Asp379Val) c.474A>T (p.Arg158Ser) c.546A>T (p.Arg182Ser) c.698A>T c.1220A>T (p.Asp407Val) c.1175A>T (p.Asp392Val) c.425-1308A>T c.953A>T (p.Asp318Val) c.*1030A>T (n.*1030A>T) | |
X | g.48904773T>C | CA412894018 | SLC35A2 | c.1136A>G (p.Asp379Gly) c.474A>G (p.Arg158=) c.546A>G (p.Arg182=) c.698A>G c.1220A>G (p.Asp407Gly) c.1175A>G (p.Asp392Gly) c.425-1308A>G c.953A>G (p.Asp318Gly) c.*1030A>G (n.*1030A>G) | |
X | g.48904773T>G | CA412894017 | SLC35A2 | c.1136A>C (p.Asp379Ala) c.474A>C (p.Arg158Ser) c.546A>C (p.Arg182Ser) c.698A>C c.1220A>C (p.Asp407Ala) c.1175A>C (p.Asp392Ala) c.425-1308A>C c.953A>C (p.Asp318Ala) c.*1030A>C (n.*1030A>C) | |
X | g.48904774C>A | CA412894020 | SLC35A2 | c.1135G>T (p.Asp379Tyr) c.473G>T (p.Arg158Ile) c.545G>T (p.Arg182Ile) c.697G>T c.1219G>T (p.Asp407Tyr) c.1174G>T (p.Asp392Tyr) c.425-1309G>T c.952G>T (p.Asp318Tyr) c.*1029G>T (n.*1029G>T) | |
X | g.48904774C= | CA2428428768 | SLC35A2 | c.1135G= (p.Asp379=) c.473G= (p.Arg158=) c.545G= (p.Arg182=) c.697G= c.1219G= (p.Asp407=) c.1174G= (p.Asp392=) c.425-1309G= c.952G= (p.Asp318=) c.*1029G= (n.*1029G=) | |
X | g.48904774C>G | CA412894022 | SLC35A2 | c.1135G>C (p.Asp379His) c.473G>C (p.Arg158Thr) c.545G>C (p.Arg182Thr) c.697G>C c.1219G>C (p.Asp407His) c.1174G>C (p.Asp392His) c.425-1309G>C c.952G>C (p.Asp318His) c.*1029G>C (n.*1029G>C) | |
X | g.48904774C>T | CA412894021 | SLC35A2 | c.1135G>A (p.Asp379Asn) c.473G>A (p.Arg158Lys) c.545G>A (p.Arg182Lys) c.697G>A c.1219G>A (p.Asp407Asn) c.1174G>A (p.Asp392Asn) c.425-1309G>A c.952G>A (p.Asp318Asn) c.*1029G>A (n.*1029G>A) | dbSNP |
X | g.48904775T>A | CA412894023 | SLC35A2 | c.1134A>T (p.Gly378=) c.472A>T (p.Arg158Ter) c.544A>T (p.Arg182Ter) c.696A>T c.1218A>T (p.Gly406=) c.1173A>T (p.Gly391=) c.425-1310A>T c.951A>T (p.Gly317=) c.*1028A>T (n.*1028A>T) | |
X | g.48904775T>C | CA412894024 | SLC35A2 | c.1134A>G (p.Gly378=) c.472A>G (p.Arg158Gly) c.544A>G (p.Arg182Gly) c.696A>G c.1218A>G (p.Gly406=) c.1173A>G (p.Gly391=) c.425-1310A>G c.951A>G (p.Gly317=) c.*1028A>G (n.*1028A>G) | |
X | g.48904775T>G | CA516359835 | SLC35A2 | c.1134A>C (p.Gly378=) c.472A>C (p.Arg158=) c.544A>C (p.Arg182=) c.696A>C c.1218A>C (p.Gly406=) c.1173A>C (p.Gly391=) c.425-1310A>C c.951A>C (p.Gly317=) c.*1028A>C (n.*1028A>C) | |
X | g.48904776C>A | CA412894025 | SLC35A2 | c.1133G>T (p.Gly378Val) c.471G>T (p.Trp157Cys) c.543G>T (p.Trp181Cys) c.695G>T c.1217G>T (p.Gly406Val) c.1172G>T (p.Gly391Val) c.425-1311G>T c.950G>T (p.Gly317Val) c.*1027G>T (n.*1027G>T) | |
X | g.48904776C= | CA2428428769 | SLC35A2 | c.1133G= (p.Gly378=) c.471G= (p.Trp157=) c.543G= (p.Trp181=) c.695G= c.1217G= (p.Gly406=) c.1172G= (p.Gly391=) c.425-1311G= c.950G= (p.Gly317=) c.*1027G= (n.*1027G=) | |
X | g.48904776C>G | CA329098486 | SLC35A2 | c.1133G>C (p.Gly378Ala) c.471G>C (p.Trp157Cys) c.543G>C (p.Trp181Cys) c.695G>C c.1217G>C (p.Gly406Ala) c.1172G>C (p.Gly391Ala) c.425-1311G>C c.950G>C (p.Gly317Ala) c.*1027G>C (n.*1027G>C) | dbSNP gnomAD v4 |
X | g.48904776C>T | CA412894026 | SLC35A2 | c.1133G>A (p.Gly378Glu) c.471G>A (p.Trp157Ter) c.543G>A (p.Trp181Ter) c.695G>A c.1217G>A (p.Gly406Glu) c.1172G>A (p.Gly391Glu) c.425-1311G>A c.950G>A (p.Gly317Glu) c.*1027G>A (n.*1027G>A) | |
X | g.48904777C>A | CA412894027 | SLC35A2 | c.1132G>T (p.Gly378Ter) c.470G>T (p.Trp157Leu) c.542G>T (p.Trp181Leu) c.694G>T c.1216G>T (p.Gly406Ter) c.1171G>T (p.Gly391Ter) c.425-1312G>T c.949G>T (p.Gly317Ter) c.*1026G>T (n.*1026G>T) | |
X | g.48904777C>G | CA412894028 | SLC35A2 | c.1132G>C (p.Gly378Arg) c.470G>C (p.Trp157Ser) c.542G>C (p.Trp181Ser) c.694G>C c.1216G>C (p.Gly406Arg) c.1171G>C (p.Gly391Arg) c.425-1312G>C c.949G>C (p.Gly317Arg) c.*1026G>C (n.*1026G>C) | |
X | g.48904777C>T | CA412894029 | SLC35A2 | c.1132G>A (p.Gly378Arg) c.470G>A (p.Trp157Ter) c.542G>A (p.Trp181Ter) c.694G>A c.1216G>A (p.Gly406Arg) c.1171G>A (p.Gly391Arg) c.425-1312G>A c.949G>A (p.Gly317Arg) c.*1026G>A (n.*1026G>A) | |
X | g.48904778A>C | CA412894030 | SLC35A2 | c.1131T>G (p.Arg377=) c.469T>G (p.Trp157Gly) c.541T>G (p.Trp181Gly) c.693T>G c.1215T>G (p.Arg405=) c.1170T>G (p.Arg390=) c.425-1313T>G c.948T>G (p.Arg316=) c.*1025T>G (n.*1025T>G) | |
X | g.48904778A>G | CA412894031 | SLC35A2 | c.1131T>C (p.Arg377=) c.469T>C (p.Trp157Arg) c.541T>C (p.Trp181Arg) c.693T>C c.1215T>C (p.Arg405=) c.1170T>C (p.Arg390=) c.425-1313T>C c.948T>C (p.Arg316=) c.*1025T>C (n.*1025T>C) | |
X | g.48904778A>T | CA412894032 | SLC35A2 | c.1131T>A (p.Arg377=) c.469T>A (p.Trp157Arg) c.541T>A (p.Trp181Arg) c.693T>A c.1215T>A (p.Arg405=) c.1170T>A (p.Arg390=) c.425-1313T>A c.948T>A (p.Arg316=) c.*1025T>A (n.*1025T>A) | |
X | g.48904779C>A | CA412894033 | SLC35A2 | c.1130G>T (p.Arg377Leu) c.468G>T (p.Pro156=) c.540G>T (p.Pro180=) c.692G>T c.1214G>T (p.Arg405Leu) c.1169G>T (p.Arg390Leu) c.425-1314G>T c.947G>T (p.Arg316Leu) c.*1024G>T (n.*1024G>T) | gnomAD v4 |
X | g.48904779C= | CA2428428770 | SLC35A2 | c.1130G= (p.Arg377=) c.468G= (p.Pro156=) c.540G= (p.Pro180=) c.692G= c.1214G= (p.Arg405=) c.1169G= (p.Arg390=) c.425-1314G= c.947G= (p.Arg316=) c.*1024G= (n.*1024G=) | |
X | g.48904779C>G | CA10406050 | SLC35A2 | c.1130G>C (p.Arg377Pro) c.468G>C (p.Pro156=) c.540G>C (p.Pro180=) c.692G>C c.1214G>C (p.Arg405Pro) c.1169G>C (p.Arg390Pro) c.425-1314G>C c.947G>C (p.Arg316Pro) c.*1024G>C (n.*1024G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904779C>T | CA10406051 | SLC35A2 | c.1130G>A (p.Arg377His) c.468G>A (p.Pro156=) c.540G>A (p.Pro180=) c.692G>A c.1214G>A (p.Arg405His) c.1169G>A (p.Arg390His) c.425-1314G>A c.947G>A (p.Arg316His) c.*1024G>A (n.*1024G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904780G>A | CA10406052 | SLC35A2 | c.1129C>T (p.Arg377Cys) c.467C>T (p.Pro156Leu) c.539C>T (p.Pro180Leu) c.691C>T c.1213C>T (p.Arg405Cys) c.1168C>T (p.Arg390Cys) c.425-1315C>T c.946C>T (p.Arg316Cys) c.*1023C>T (n.*1023C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904780G>C | CA412894034 | SLC35A2 | c.1129C>G (p.Arg377Gly) c.467C>G (p.Pro156Arg) c.539C>G (p.Pro180Arg) c.691C>G c.1213C>G (p.Arg405Gly) c.1168C>G (p.Arg390Gly) c.425-1315C>G c.946C>G (p.Arg316Gly) c.*1023C>G (n.*1023C>G) | gnomAD v4 |
X | g.48904780G= | CA2428428771 | SLC35A2 | c.1129C= (p.Arg377=) c.467C= (p.Pro156=) c.539C= (p.Pro180=) c.691C= c.1213C= (p.Arg405=) c.1168C= (p.Arg390=) c.425-1315C= c.946C= (p.Arg316=) c.*1023C= (n.*1023C=) | |
X | g.48904780G>T | CA412894035 | SLC35A2 | c.1129C>A (p.Arg377Ser) c.467C>A (p.Pro156Gln) c.539C>A (p.Pro180Gln) c.691C>A c.1213C>A (p.Arg405Ser) c.1168C>A (p.Arg390Ser) c.425-1315C>A c.946C>A (p.Arg316Ser) c.*1023C>A (n.*1023C>A) | |
X | g.48904781G>A | CA412894036 | SLC35A2 | c.1128C>T (p.His376=) c.466C>T (p.Pro156Ser) c.538C>T (p.Pro180Ser) c.690C>T c.1212C>T (p.His404=) c.1167C>T (p.His389=) c.425-1316C>T c.945C>T (p.His315=) c.*1022C>T (n.*1022C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48904781G>C | CA412894038 | SLC35A2 | c.1128C>G (p.His376Gln) c.466C>G (p.Pro156Ala) c.538C>G (p.Pro180Ala) c.690C>G c.1212C>G (p.His404Gln) c.1167C>G (p.His389Gln) c.425-1316C>G c.945C>G (p.His315Gln) c.*1022C>G (n.*1022C>G) | |
X | g.48904781G= | CA2428428772 | SLC35A2 | c.1128C= (p.His376=) c.466C= (p.Pro156=) c.538C= (p.Pro180=) c.690C= c.1212C= (p.His404=) c.1167C= (p.His389=) c.425-1316C= c.945C= (p.His315=) c.*1022C= (n.*1022C=) | |
X | g.48904781G>T | CA412894037 | SLC35A2 | c.1128C>A (p.His376Gln) c.466C>A (p.Pro156Thr) c.538C>A (p.Pro180Thr) c.690C>A c.1212C>A (p.His404Gln) c.1167C>A (p.His389Gln) c.425-1316C>A c.945C>A (p.His315Gln) c.*1022C>A (n.*1022C>A) | |
X | g.48904782T>A | CA412894039 | SLC35A2 | c.1127A>T (p.His376Leu) c.465A>T (p.Pro155=) c.537A>T (p.Pro179=) c.689A>T c.1211A>T (p.His404Leu) c.1166A>T (p.His389Leu) c.425-1317A>T c.944A>T (p.His315Leu) c.*1021A>T (n.*1021A>T) | |
X | g.48904782T>C | CA412894040 | SLC35A2 | c.1127A>G (p.His376Arg) c.465A>G (p.Pro155=) c.537A>G (p.Pro179=) c.689A>G c.1211A>G (p.His404Arg) c.1166A>G (p.His389Arg) c.425-1317A>G c.944A>G (p.His315Arg) c.*1021A>G (n.*1021A>G) | |
X | g.48904782T>G | CA412894041 | SLC35A2 | c.1127A>C (p.His376Pro) c.465A>C (p.Pro155=) c.537A>C (p.Pro179=) c.689A>C c.1211A>C (p.His404Pro) c.1166A>C (p.His389Pro) c.425-1317A>C c.944A>C (p.His315Pro) c.*1021A>C (n.*1021A>C) | |
X | g.48904783G>A | CA412894042 | SLC35A2 | c.1126C>T (p.His376Tyr) c.464C>T (p.Pro155Leu) c.536C>T (p.Pro179Leu) c.688C>T c.1210C>T (p.His404Tyr) c.1165C>T (p.His389Tyr) c.425-1318C>T c.943C>T (p.His315Tyr) c.*1020C>T (n.*1020C>T) | |
X | g.48904783G>C | CA412894043 | SLC35A2 | c.1126C>G (p.His376Asp) c.464C>G (p.Pro155Arg) c.536C>G (p.Pro179Arg) c.688C>G c.1210C>G (p.His404Asp) c.1165C>G (p.His389Asp) c.425-1318C>G c.943C>G (p.His315Asp) c.*1020C>G (n.*1020C>G) | |
X | g.48904783G>T | CA412894044 | SLC35A2 | c.1126C>A (p.His376Asn) c.464C>A (p.Pro155Gln) c.536C>A (p.Pro179Gln) c.688C>A c.1210C>A (p.His404Asn) c.1165C>A (p.His389Asn) c.425-1318C>A c.943C>A (p.His315Asn) c.*1020C>A (n.*1020C>A) | |
X | g.48904785del | CA2840092291 | SLC35A2 | c.1126del (p.His376ThrfsTer18) c.464del (p.Pro155HisfsTer19) c.1126del (p.His376ThrfsTer17) c.536del (p.Pro179HisfsTer22) c.688del c.536del (p.Pro179HisfsTer19) c.1210del (p.His404ThrfsTer17) c.1165del (p.His389ThrfsTer17) c.425-1318del c.943del (p.His315ThrfsTer17) c.*1020del (n.*1020del) | |
X | g.48904784_48904785del | CA2579602953 | SLC35A2 | c.1125_1126del (p.His376ProfsTer?) c.463_464del (p.Pro155ThrfsTer17) c.535_536del (p.Pro179ThrfsTer18) c.687_688del c.535_536del (p.Pro179ThrfsTer17) c.1209_1210del (p.His404ProfsTer?) c.1164_1165del (p.His389ProfsTer?) c.425-1319_425-1318del c.942_943del (p.His315ProfsTer?) c.*1019_*1020del (n.*1019_*1020del) | |
X | g.48904784G>A | CA10406053 | SLC35A2 | c.1125C>T (p.Ser375=) c.463C>T (p.Pro155Ser) c.535C>T (p.Pro179Ser) c.687C>T c.1209C>T (p.Ser403=) c.1164C>T (p.Ser388=) c.425-1319C>T c.942C>T (p.Ser314=) c.*1019C>T (n.*1019C>T) | dbSNP ExAC gnomAD v4 |
X | g.48904784G>C | CA412894045 | SLC35A2 | c.1125C>G (p.Ser375=) c.463C>G (p.Pro155Ala) c.535C>G (p.Pro179Ala) c.687C>G c.1209C>G (p.Ser403=) c.1164C>G (p.Ser388=) c.425-1319C>G c.942C>G (p.Ser314=) c.*1019C>G (n.*1019C>G) | |
X | g.48904784G= | CA2428428773 | SLC35A2 | c.1125C= (p.Ser375=) c.463C= (p.Pro155=) c.535C= (p.Pro179=) c.687C= c.1209C= (p.Ser403=) c.1164C= (p.Ser388=) c.425-1319C= c.942C= (p.Ser314=) c.*1019C= (n.*1019C=) | |
X | g.48904784G>T | CA412894046 | SLC35A2 | c.1125C>A (p.Ser375=) c.463C>A (p.Pro155Thr) c.535C>A (p.Pro179Thr) c.687C>A c.1209C>A (p.Ser403=) c.1164C>A (p.Ser388=) c.425-1319C>A c.942C>A (p.Ser314=) c.*1019C>A (n.*1019C>A) | |
X | g.48904785G>A | CA412894048 | SLC35A2 | c.1124C>T (p.Ser375Phe) c.462C>T (p.Phe154=) c.534C>T (p.Phe178=) c.686C>T c.1208C>T (p.Ser403Phe) c.1163C>T (p.Ser388Phe) c.425-1320C>T c.941C>T (p.Ser314Phe) c.*1018C>T (n.*1018C>T) | dbSNP gnomAD v2 |
X | g.48904785G>C | CA412894049 | SLC35A2 | c.1124C>G (p.Ser375Cys) c.462C>G (p.Phe154Leu) c.534C>G (p.Phe178Leu) c.686C>G c.1208C>G (p.Ser403Cys) c.1163C>G (p.Ser388Cys) c.425-1320C>G c.941C>G (p.Ser314Cys) c.*1018C>G (n.*1018C>G) | |
X | g.48904785G= | CA2428428774 | SLC35A2 | c.1124C= (p.Ser375=) c.462C= (p.Phe154=) c.534C= (p.Phe178=) c.686C= c.1208C= (p.Ser403=) c.1163C= (p.Ser388=) c.425-1320C= c.941C= (p.Ser314=) c.*1018C= (n.*1018C=) | |
X | g.48904785G>T | CA412894047 | SLC35A2 | c.1124C>A (p.Ser375Tyr) c.462C>A (p.Phe154Leu) c.534C>A (p.Phe178Leu) c.686C>A c.1208C>A (p.Ser403Tyr) c.1163C>A (p.Ser388Tyr) c.425-1320C>A c.941C>A (p.Ser314Tyr) c.*1018C>A (n.*1018C>A) | |
X | g.48904786A>C | CA412894050 | SLC35A2 | c.1123T>G (p.Ser375Ala) c.461T>G (p.Phe154Cys) c.533T>G (p.Phe178Cys) c.685T>G c.1207T>G (p.Ser403Ala) c.1162T>G (p.Ser388Ala) c.425-1321T>G c.940T>G (p.Ser314Ala) c.*1017T>G (n.*1017T>G) | |
X | g.48904786A>G | CA412894051 | SLC35A2 | c.1123T>C (p.Ser375Pro) c.461T>C (p.Phe154Ser) c.533T>C (p.Phe178Ser) c.685T>C c.1207T>C (p.Ser403Pro) c.1162T>C (p.Ser388Pro) c.425-1321T>C c.940T>C (p.Ser314Pro) c.*1017T>C (n.*1017T>C) | |
X | g.48904786A>T | CA412894052 | SLC35A2 | c.1123T>A (p.Ser375Thr) c.461T>A (p.Phe154Tyr) c.533T>A (p.Phe178Tyr) c.685T>A c.1207T>A (p.Ser403Thr) c.1162T>A (p.Ser388Thr) c.425-1321T>A c.940T>A (p.Ser314Thr) c.*1017T>A (n.*1017T>A) | |
X | g.48904787A>C | CA412894053 | SLC35A2 | c.1122T>G (p.Ser374=) c.460T>G (p.Phe154Val) c.532T>G (p.Phe178Val) c.684T>G c.1206T>G (p.Ser402=) c.1161T>G (p.Ser387=) c.425-1322T>G c.939T>G (p.Ser313=) c.*1016T>G (n.*1016T>G) | |
X | g.48904787A>G | CA412894054 | SLC35A2 | c.1122T>C (p.Ser374=) c.460T>C (p.Phe154Leu) c.532T>C (p.Phe178Leu) c.684T>C c.1206T>C (p.Ser402=) c.1161T>C (p.Ser387=) c.425-1322T>C c.939T>C (p.Ser313=) c.*1016T>C (n.*1016T>C) | |
X | g.48904787A>T | CA412894055 | SLC35A2 | c.1122T>A (p.Ser374=) c.460T>A (p.Phe154Ile) c.532T>A (p.Phe178Ile) c.684T>A c.1206T>A (p.Ser402=) c.1161T>A (p.Ser387=) c.425-1322T>A c.939T>A (p.Ser313=) c.*1016T>A (n.*1016T>A) | |
X | g.48904788G>A | CA412894056 | SLC35A2 | c.1121C>T (p.Ser374Phe) c.459C>T (p.Val153=) c.531C>T (p.Val177=) c.683C>T c.1205C>T (p.Ser402Phe) c.1160C>T (p.Ser387Phe) c.425-1323C>T c.938C>T (p.Ser313Phe) c.*1015C>T (n.*1015C>T) | COSMIC COSMIC COSMIC COSMIC |
X | g.48904788G>C | CA412894057 | SLC35A2 | c.1121C>G (p.Ser374Cys) c.459C>G (p.Val153=) c.531C>G (p.Val177=) c.683C>G c.1205C>G (p.Ser402Cys) c.1160C>G (p.Ser387Cys) c.425-1323C>G c.938C>G (p.Ser313Cys) c.*1015C>G (n.*1015C>G) | |
X | g.48904788G>T | CA412894058 | SLC35A2 | c.1121C>A (p.Ser374Tyr) c.459C>A (p.Val153=) c.531C>A (p.Val177=) c.683C>A c.1205C>A (p.Ser402Tyr) c.1160C>A (p.Ser387Tyr) c.425-1323C>A c.938C>A (p.Ser313Tyr) c.*1015C>A (n.*1015C>A) | |
X | g.48904788_48904793del | CA2579602956 | SLC35A2 | c.1116_1121del (p.Gln372_Ser374delinsHis) c.454_459del (p.Ala152_Val153del) c.526_531del (p.Ala176_Val177del) c.678_683del c.1200_1205del (p.Gln400_Ser402delinsHis) c.1155_1160del (p.Gln385_Ser387delinsHis) c.425-1328_425-1323del c.933_938del (p.Gln311_Ser313delinsHis) c.*1010_*1015del (n.*1010_*1015del) | |
X | g.48904789A>C | CA412894059 | SLC35A2 | c.1120T>G (p.Ser374Ala) c.458T>G (p.Val153Gly) c.530T>G (p.Val177Gly) c.682T>G c.1204T>G (p.Ser402Ala) c.1159T>G (p.Ser387Ala) c.425-1324T>G c.937T>G (p.Ser313Ala) c.*1014T>G (n.*1014T>G) | |
X | g.48904789A>G | CA412894060 | SLC35A2 | c.1120T>C (p.Ser374Pro) c.458T>C (p.Val153Ala) c.530T>C (p.Val177Ala) c.682T>C c.1204T>C (p.Ser402Pro) c.1159T>C (p.Ser387Pro) c.425-1324T>C c.937T>C (p.Ser313Pro) c.*1014T>C (n.*1014T>C) | |
X | g.48904789A>T | CA412894061 | SLC35A2 | c.1120T>A (p.Ser374Thr) c.458T>A (p.Val153Asp) c.530T>A (p.Val177Asp) c.682T>A c.1204T>A (p.Ser402Thr) c.1159T>A (p.Ser387Thr) c.425-1324T>A c.937T>A (p.Ser313Thr) c.*1014T>A (n.*1014T>A) | |
X | g.48904790C>A | CA10406054 | SLC35A2 | c.1119G>T (p.Leu373=) c.457G>T (p.Val153Phe) c.529G>T (p.Val177Phe) c.681G>T c.1203G>T (p.Leu401=) c.1158G>T (p.Leu386=) c.425-1325G>T c.936G>T (p.Leu312=) c.*1013G>T (n.*1013G>T) | dbSNP ExAC gnomAD v2 |
X | g.48904790C= | CA2428428775 | SLC35A2 | c.1119G= (p.Leu373=) c.457G= (p.Val153=) c.529G= (p.Val177=) c.681G= c.1203G= (p.Leu401=) c.1158G= (p.Leu386=) c.425-1325G= c.936G= (p.Leu312=) c.*1013G= (n.*1013G=) | |
X | g.48904790C>G | CA412894062 | SLC35A2 | c.1119G>C (p.Leu373=) c.457G>C (p.Val153Leu) c.529G>C (p.Val177Leu) c.681G>C c.1203G>C (p.Leu401=) c.1158G>C (p.Leu386=) c.425-1325G>C c.936G>C (p.Leu312=) c.*1013G>C (n.*1013G>C) | |
X | g.48904790C>T | CA412894063 | SLC35A2 | c.1119G>A (p.Leu373=) c.457G>A (p.Val153Ile) c.529G>A (p.Val177Ile) c.681G>A c.1203G>A (p.Leu401=) c.1158G>A (p.Leu386=) c.425-1325G>A c.936G>A (p.Leu312=) c.*1013G>A (n.*1013G>A) | |
X | g.48904791A>C | CA412894064 | SLC35A2 | c.1118T>G (p.Leu373Arg) c.456T>G (p.Ala152=) c.528T>G (p.Ala176=) c.680T>G c.1202T>G (p.Leu401Arg) c.1157T>G (p.Leu386Arg) c.425-1326T>G c.935T>G (p.Leu312Arg) c.*1012T>G (n.*1012T>G) | |
X | g.48904791A>G | CA412894065 | SLC35A2 | c.1118T>C (p.Leu373Pro) c.456T>C (p.Ala152=) c.528T>C (p.Ala176=) c.680T>C c.1202T>C (p.Leu401Pro) c.1157T>C (p.Leu386Pro) c.425-1326T>C c.935T>C (p.Leu312Pro) c.*1012T>C (n.*1012T>C) | ClinVar |
X | g.48904791A>T | CA412894066 | SLC35A2 | c.1118T>A (p.Leu373Gln) c.456T>A (p.Ala152=) c.528T>A (p.Ala176=) c.680T>A c.1202T>A (p.Leu401Gln) c.1157T>A (p.Leu386Gln) c.425-1326T>A c.935T>A (p.Leu312Gln) c.*1012T>A (n.*1012T>A) | |
X | g.48904792G>A | CA412894067 | SLC35A2 | c.1117C>T (p.Leu373=) c.455C>T (p.Ala152Val) c.527C>T (p.Ala176Val) c.679C>T c.1201C>T (p.Leu401=) c.1156C>T (p.Leu386=) c.425-1327C>T c.934C>T (p.Leu312=) c.*1011C>T (n.*1011C>T) | gnomAD v4 |
X | g.48904792G>C | CA412894068 | SLC35A2 | c.1117C>G (p.Leu373Val) c.455C>G (p.Ala152Gly) c.527C>G (p.Ala176Gly) c.679C>G c.1201C>G (p.Leu401Val) c.1156C>G (p.Leu386Val) c.425-1327C>G c.934C>G (p.Leu312Val) c.*1011C>G (n.*1011C>G) | gnomAD v4 |
X | g.48904792G>T | CA412894069 | SLC35A2 | c.1117C>A (p.Leu373Met) c.455C>A (p.Ala152Asp) c.527C>A (p.Ala176Asp) c.679C>A c.1201C>A (p.Leu401Met) c.1156C>A (p.Leu386Met) c.425-1327C>A c.934C>A (p.Leu312Met) c.*1011C>A (n.*1011C>A) | |
X | g.48904793C>A | CA412894070 | SLC35A2 | c.1116G>T (p.Gln372His) c.454G>T (p.Ala152Ser) c.526G>T (p.Ala176Ser) c.678G>T c.1200G>T (p.Gln400His) c.1155G>T (p.Gln385His) c.425-1328G>T c.933G>T (p.Gln311His) c.*1010G>T (n.*1010G>T) | |
X | g.48904793C>G | CA412894071 | SLC35A2 | c.1116G>C (p.Gln372His) c.454G>C (p.Ala152Pro) c.526G>C (p.Ala176Pro) c.678G>C c.1200G>C (p.Gln400His) c.1155G>C (p.Gln385His) c.425-1328G>C c.933G>C (p.Gln311His) c.*1010G>C (n.*1010G>C) | |
X | g.48904793C>T | CA412894072 | SLC35A2 | c.1116G>A (p.Gln372=) c.454G>A (p.Ala152Thr) c.526G>A (p.Ala176Thr) c.678G>A c.1200G>A (p.Gln400=) c.1155G>A (p.Gln385=) c.425-1328G>A c.933G>A (p.Gln311=) c.*1010G>A (n.*1010G>A) | |
X | g.48904794T>A | CA412894073 | SLC35A2 | c.1115A>T (p.Gln372Leu) c.453A>T (p.Ala151=) c.525A>T (p.Ala175=) c.677A>T c.1199A>T (p.Gln400Leu) c.1154A>T (p.Gln385Leu) c.425-1329A>T c.932A>T (p.Gln311Leu) c.*1009A>T (n.*1009A>T) | |
X | g.48904794T>C | CA412894074 | SLC35A2 | c.1115A>G (p.Gln372Arg) c.453A>G (p.Ala151=) c.525A>G (p.Ala175=) c.677A>G c.1199A>G (p.Gln400Arg) c.1154A>G (p.Gln385Arg) c.425-1329A>G c.932A>G (p.Gln311Arg) c.*1009A>G (n.*1009A>G) | |
X | g.48904794T>G | CA412894075 | SLC35A2 | c.1115A>C (p.Gln372Pro) c.453A>C (p.Ala151=) c.525A>C (p.Ala175=) c.677A>C c.1199A>C (p.Gln400Pro) c.1154A>C (p.Gln385Pro) c.425-1329A>C c.932A>C (p.Gln311Pro) c.*1009A>C (n.*1009A>C) | |
X | g.48904795G>A | CA412894078 | SLC35A2 | c.1114C>T (p.Gln372Ter) c.452C>T (p.Ala151Val) c.524C>T (p.Ala175Val) c.676C>T c.1198C>T (p.Gln400Ter) c.1153C>T (p.Gln385Ter) c.425-1330C>T c.931C>T (p.Gln311Ter) c.*1008C>T (n.*1008C>T) | |
X | g.48904795G>C | CA412894077 | SLC35A2 | c.1114C>G (p.Gln372Glu) c.452C>G (p.Ala151Gly) c.524C>G (p.Ala175Gly) c.676C>G c.1198C>G (p.Gln400Glu) c.1153C>G (p.Gln385Glu) c.425-1330C>G c.931C>G (p.Gln311Glu) c.*1008C>G (n.*1008C>G) | |
X | g.48904795G>T | CA412894076 | SLC35A2 | c.1114C>A (p.Gln372Lys) c.452C>A (p.Ala151Glu) c.524C>A (p.Ala175Glu) c.676C>A c.1198C>A (p.Gln400Lys) c.1153C>A (p.Gln385Lys) c.425-1330C>A c.931C>A (p.Gln311Lys) c.*1008C>A (n.*1008C>A) | |
X | g.48904796_48904798del | CA2693659122 | SLC35A2 | c.1112_1114del (p.Pro371del) c.450_452del (p.Ala151del) c.522_524del (p.Ala175del) c.674_676del c.1196_1198del (p.Pro399del) c.1151_1153del (p.Pro384del) c.425-1332_425-1330del c.929_931del (p.Pro310del) c.*1006_*1008del (n.*1006_*1008del) | gnomAD v4 |
X | g.48904796C>A | CA412894079 | SLC35A2 | c.1113G>T (p.Pro371=) c.451G>T (p.Ala151Ser) c.523G>T (p.Ala175Ser) c.675G>T c.1197G>T (p.Pro399=) c.1152G>T (p.Pro384=) c.425-1331G>T c.930G>T (p.Pro310=) c.*1007G>T (n.*1007G>T) | |
X | g.48904796C= | CA2428428776 | SLC35A2 | c.1113G= (p.Pro371=) c.451G= (p.Ala151=) c.523G= (p.Ala175=) c.675G= c.1197G= (p.Pro399=) c.1152G= (p.Pro384=) c.425-1331G= c.930G= (p.Pro310=) c.*1007G= (n.*1007G=) | |
X | g.48904796C>G | CA412894080 | SLC35A2 | c.1113G>C (p.Pro371=) c.451G>C (p.Ala151Pro) c.523G>C (p.Ala175Pro) c.675G>C c.1197G>C (p.Pro399=) c.1152G>C (p.Pro384=) c.425-1331G>C c.930G>C (p.Pro310=) c.*1007G>C (n.*1007G>C) | |
X | g.48904796C>T | CA10406055 | SLC35A2 | c.1113G>A (p.Pro371=) c.451G>A (p.Ala151Thr) c.523G>A (p.Ala175Thr) c.675G>A c.1197G>A (p.Pro399=) c.1152G>A (p.Pro384=) c.425-1331G>A c.930G>A (p.Pro310=) c.*1007G>A (n.*1007G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904797G>A | CA10406056 | SLC35A2 | c.1112C>T (p.Pro371Leu) c.450C>T (p.Thr150=) c.522C>T (p.Thr174=) c.674C>T c.1196C>T (p.Pro399Leu) c.1151C>T (p.Pro384Leu) c.425-1332C>T c.929C>T (p.Pro310Leu) c.*1006C>T (n.*1006C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.48904797G>C | CA412894081 | SLC35A2 | c.1112C>G (p.Pro371Arg) c.450C>G (p.Thr150=) c.522C>G (p.Thr174=) c.674C>G c.1196C>G (p.Pro399Arg) c.1151C>G (p.Pro384Arg) c.425-1332C>G c.929C>G (p.Pro310Arg) c.*1006C>G (n.*1006C>G) | |
X | g.48904797G= | CA2428428777 | SLC35A2 | c.1112C= (p.Pro371=) c.450C= (p.Thr150=) c.522C= (p.Thr174=) c.674C= c.1196C= (p.Pro399=) c.1151C= (p.Pro384=) c.425-1332C= c.929C= (p.Pro310=) c.*1006C= (n.*1006C=) | |
X | g.48904797G>T | CA412894082 | SLC35A2 | c.1112C>A (p.Pro371Gln) c.450C>A (p.Thr150=) c.522C>A (p.Thr174=) c.674C>A c.1196C>A (p.Pro399Gln) c.1151C>A (p.Pro384Gln) c.425-1332C>A c.929C>A (p.Pro310Gln) c.*1006C>A (n.*1006C>A) | ClinVar |
X | g.48904798G>A | CA412894083 | SLC35A2 | c.1111C>T (p.Pro371Ser) c.449C>T (p.Thr150Ile) c.521C>T (p.Thr174Ile) c.673C>T c.1195C>T (p.Pro399Ser) c.1150C>T (p.Pro384Ser) c.425-1333C>T c.928C>T (p.Pro310Ser) c.*1005C>T (n.*1005C>T) | COSMIC COSMIC COSMIC COSMIC |
X | g.48904798G>C | CA412894084 | SLC35A2 | c.1111C>G (p.Pro371Ala) c.449C>G (p.Thr150Ser) c.521C>G (p.Thr174Ser) c.673C>G c.1195C>G (p.Pro399Ala) c.1150C>G (p.Pro384Ala) c.425-1333C>G c.928C>G (p.Pro310Ala) c.*1005C>G (n.*1005C>G) | |
X | g.48904798G>T | CA412894085 | SLC35A2 | c.1111C>A (p.Pro371Thr) c.449C>A (p.Thr150Asn) c.521C>A (p.Thr174Asn) c.673C>A c.1195C>A (p.Pro399Thr) c.1150C>A (p.Pro384Thr) c.425-1333C>A c.928C>A (p.Pro310Thr) c.*1005C>A (n.*1005C>A) | |
X | g.48904799T>A | CA412894086 | SLC35A2 | c.1110A>T (p.Pro370=) c.448A>T (p.Thr150Ser) c.520A>T (p.Thr174Ser) c.672A>T c.1194A>T (p.Pro398=) c.1149A>T (p.Pro383=) c.425-1334A>T c.927A>T (p.Pro309=) c.*1004A>T (n.*1004A>T) | ClinVar |
X | g.48904799T>C | CA10406057 | SLC35A2 | c.1110A>G (p.Pro370=) c.448A>G (p.Thr150Ala) c.520A>G (p.Thr174Ala) c.672A>G c.1194A>G (p.Pro398=) c.1149A>G (p.Pro383=) c.425-1334A>G c.927A>G (p.Pro309=) c.*1004A>G (n.*1004A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904799T>G | CA412894087 | SLC35A2 | c.1110A>C (p.Pro370=) c.448A>C (p.Thr150Pro) c.520A>C (p.Thr174Pro) c.672A>C c.1194A>C (p.Pro398=) c.1149A>C (p.Pro383=) c.425-1334A>C c.927A>C (p.Pro309=) c.*1004A>C (n.*1004A>C) | |
X | g.48904799T= | CA2428428778 | SLC35A2 | c.1110A= (p.Pro370=) c.448A= (p.Thr150=) c.520A= (p.Thr174=) c.672A= c.1194A= (p.Pro398=) c.1149A= (p.Pro383=) c.425-1334A= c.927A= (p.Pro309=) c.*1004A= (n.*1004A=) | |
X | g.48904800G>A | CA412894088 | SLC35A2 | c.1109C>T (p.Pro370Leu) c.447C>T (p.Thr149=) c.519C>T (p.Thr173=) c.671C>T c.1193C>T (p.Pro398Leu) c.1148C>T (p.Pro383Leu) c.425-1335C>T c.926C>T (p.Pro309Leu) c.*1003C>T (n.*1003C>T) | |
X | g.48904800G>C | CA412894089 | SLC35A2 | c.1109C>G (p.Pro370Arg) c.447C>G (p.Thr149=) c.519C>G (p.Thr173=) c.671C>G c.1193C>G (p.Pro398Arg) c.1148C>G (p.Pro383Arg) c.425-1335C>G c.926C>G (p.Pro309Arg) c.*1003C>G (n.*1003C>G) | |
X | g.48904800G>T | CA412894090 | SLC35A2 | c.1109C>A (p.Pro370Gln) c.447C>A (p.Thr149=) c.519C>A (p.Thr173=) c.671C>A c.1193C>A (p.Pro398Gln) c.1148C>A (p.Pro383Gln) c.425-1335C>A c.926C>A (p.Pro309Gln) c.*1003C>A (n.*1003C>A) | |
X | g.48904801G>A | CA412894091 | SLC35A2 | c.1108C>T (p.Pro370Ser) c.446C>T (p.Thr149Ile) c.518C>T (p.Thr173Ile) c.670C>T c.1192C>T (p.Pro398Ser) c.1147C>T (p.Pro383Ser) c.425-1336C>T c.925C>T (p.Pro309Ser) c.*1002C>T (n.*1002C>T) | |
X | g.48904801G>C | CA412894093 | SLC35A2 | c.1108C>G (p.Pro370Ala) c.446C>G (p.Thr149Ser) c.518C>G (p.Thr173Ser) c.670C>G c.1192C>G (p.Pro398Ala) c.1147C>G (p.Pro383Ala) c.425-1336C>G c.925C>G (p.Pro309Ala) c.*1002C>G (n.*1002C>G) | |
X | g.48904801G>T | CA412894092 | SLC35A2 | c.1108C>A (p.Pro370Thr) c.446C>A (p.Thr149Asn) c.518C>A (p.Thr173Asn) c.670C>A c.1192C>A (p.Pro398Thr) c.1147C>A (p.Pro383Thr) c.425-1336C>A c.925C>A (p.Pro309Thr) c.*1002C>A (n.*1002C>A) | |
X | g.48904802T>A | CA412894094 | SLC35A2 | c.1107A>T (p.Pro369=) c.445A>T (p.Thr149Ser) c.517A>T (p.Thr173Ser) c.669A>T c.1191A>T (p.Pro397=) c.1146A>T (p.Pro382=) c.425-1337A>T c.924A>T (p.Pro308=) c.*1001A>T (n.*1001A>T) | |
X | g.48904802T>C | CA412894095 | SLC35A2 | c.1107A>G (p.Pro369=) c.445A>G (p.Thr149Ala) c.517A>G (p.Thr173Ala) c.669A>G c.1191A>G (p.Pro397=) c.1146A>G (p.Pro382=) c.425-1337A>G c.924A>G (p.Pro308=) c.*1001A>G (n.*1001A>G) | |
X | g.48904802T>G | CA412894096 | SLC35A2 | c.1107A>C (p.Pro369=) c.445A>C (p.Thr149Pro) c.517A>C (p.Thr173Pro) c.669A>C c.1191A>C (p.Pro397=) c.1146A>C (p.Pro382=) c.425-1337A>C c.924A>C (p.Pro308=) c.*1001A>C (n.*1001A>C) | |
X | g.48904803G>A | CA412894097 | SLC35A2 | c.1106C>T (p.Pro369Leu) c.444C>T (p.Thr148=) c.516C>T (p.Thr172=) c.668C>T c.1190C>T (p.Pro397Leu) c.1145C>T (p.Pro382Leu) c.425-1338C>T c.923C>T (p.Pro308Leu) c.*1000C>T (n.*1000C>T) | |
X | g.48904803G>C | CA412894098 | SLC35A2 | c.1106C>G (p.Pro369Arg) c.444C>G (p.Thr148=) c.516C>G (p.Thr172=) c.668C>G c.1190C>G (p.Pro397Arg) c.1145C>G (p.Pro382Arg) c.425-1338C>G c.923C>G (p.Pro308Arg) c.*1000C>G (n.*1000C>G) | |
X | g.48904803G>T | CA412894099 | SLC35A2 | c.1106C>A (p.Pro369Gln) c.444C>A (p.Thr148=) c.516C>A (p.Thr172=) c.668C>A c.1190C>A (p.Pro397Gln) c.1145C>A (p.Pro382Gln) c.425-1338C>A c.923C>A (p.Pro308Gln) c.*1000C>A (n.*1000C>A) | |
X | g.48904804G>A | CA412894100 | SLC35A2 | c.1105C>T (p.Pro369Ser) c.443C>T (p.Thr148Ile) c.515C>T (p.Thr172Ile) c.667C>T c.1189C>T (p.Pro397Ser) c.1144C>T (p.Pro382Ser) c.425-1339C>T c.922C>T (p.Pro308Ser) c.*999C>T (n.*999C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48904804G>C | CA412894101 | SLC35A2 | c.1105C>G (p.Pro369Ala) c.443C>G (p.Thr148Ser) c.515C>G (p.Thr172Ser) c.667C>G c.1189C>G (p.Pro397Ala) c.1144C>G (p.Pro382Ala) c.425-1339C>G c.922C>G (p.Pro308Ala) c.*999C>G (n.*999C>G) | |
X | g.48904804G= | CA2428428779 | SLC35A2 | c.1105C= (p.Pro369=) c.443C= (p.Thr148=) c.515C= (p.Thr172=) c.667C= c.1189C= (p.Pro397=) c.1144C= (p.Pro382=) c.425-1339C= c.922C= (p.Pro308=) c.*999C= (n.*999C=) | |
X | g.48904804G>T | CA412894102 | SLC35A2 | c.1105C>A (p.Pro369Thr) c.443C>A (p.Thr148Asn) c.515C>A (p.Thr172Asn) c.667C>A c.1189C>A (p.Pro397Thr) c.1144C>A (p.Pro382Thr) c.425-1339C>A c.922C>A (p.Pro308Thr) c.*999C>A (n.*999C>A) | |
X | g.48904805T>A | CA412894104 | SLC35A2 | c.1104A>T (p.Pro368=) c.442A>T (p.Thr148Ser) c.514A>T (p.Thr172Ser) c.666A>T c.1188A>T (p.Pro396=) c.1143A>T (p.Pro381=) c.425-1340A>T c.921A>T (p.Pro307=) c.*998A>T (n.*998A>T) | |
X | g.48904805T>C | CA412894105 | SLC35A2 | c.1104A>G (p.Pro368=) c.442A>G (p.Thr148Ala) c.514A>G (p.Thr172Ala) c.666A>G c.1188A>G (p.Pro396=) c.1143A>G (p.Pro381=) c.425-1340A>G c.921A>G (p.Pro307=) c.*998A>G (n.*998A>G) | |
X | g.48904805T>G | CA412894103 | SLC35A2 | c.1104A>C (p.Pro368=) c.442A>C (p.Thr148Pro) c.514A>C (p.Thr172Pro) c.666A>C c.1188A>C (p.Pro396=) c.1143A>C (p.Pro381=) c.425-1340A>C c.921A>C (p.Pro307=) c.*998A>C (n.*998A>C) | |
X | g.48904806G>A | CA412894106 | SLC35A2 | c.1103C>T (p.Pro368Leu) c.441C>T (p.Ala147=) c.513C>T (p.Ala171=) c.665C>T c.1187C>T (p.Pro396Leu) c.1142C>T (p.Pro381Leu) c.425-1341C>T c.920C>T (p.Pro307Leu) c.*997C>T (n.*997C>T) | |
X | g.48904806G>C | CA412894107 | SLC35A2 | c.1103C>G (p.Pro368Arg) c.441C>G (p.Ala147=) c.513C>G (p.Ala171=) c.665C>G c.1187C>G (p.Pro396Arg) c.1142C>G (p.Pro381Arg) c.425-1341C>G c.920C>G (p.Pro307Arg) c.*997C>G (n.*997C>G) | |
X | g.48904806G>T | CA412894108 | SLC35A2 | c.1103C>A (p.Pro368Gln) c.441C>A (p.Ala147=) c.513C>A (p.Ala171=) c.665C>A c.1187C>A (p.Pro396Gln) c.1142C>A (p.Pro381Gln) c.425-1341C>A c.920C>A (p.Pro307Gln) c.*997C>A (n.*997C>A) | |
X | g.48904807G>A | CA412894109 | SLC35A2 | c.1102C>T (p.Pro368Ser) c.440C>T (p.Ala147Val) c.512C>T (p.Ala171Val) c.664C>T c.1186C>T (p.Pro396Ser) c.1141C>T (p.Pro381Ser) c.425-1342C>T c.919C>T (p.Pro307Ser) c.*996C>T (n.*996C>T) | dbSNP |
X | g.48904807G>C | CA412894110 | SLC35A2 | c.1102C>G (p.Pro368Ala) c.440C>G (p.Ala147Gly) c.512C>G (p.Ala171Gly) c.664C>G c.1186C>G (p.Pro396Ala) c.1141C>G (p.Pro381Ala) c.425-1342C>G c.919C>G (p.Pro307Ala) c.*996C>G (n.*996C>G) | |
X | g.48904807G= | CA2428428780 | SLC35A2 | c.1102C= (p.Pro368=) c.440C= (p.Ala147=) c.512C= (p.Ala171=) c.664C= c.1186C= (p.Pro396=) c.1141C= (p.Pro381=) c.425-1342C= c.919C= (p.Pro307=) c.*996C= (n.*996C=) | |
X | g.48904807G>T | CA412894111 | SLC35A2 | c.1102C>A (p.Pro368Thr) c.440C>A (p.Ala147Asp) c.512C>A (p.Ala171Asp) c.664C>A c.1186C>A (p.Pro396Thr) c.1141C>A (p.Pro381Thr) c.425-1342C>A c.919C>A (p.Pro307Thr) c.*996C>A (n.*996C>A) | |
X | g.48904808C>A | CA412894112 | SLC35A2 | c.1101G>T (p.Gln367His) c.439G>T (p.Ala147Ser) c.511G>T (p.Ala171Ser) c.663G>T c.1185G>T (p.Gln395His) c.1140G>T (p.Gln380His) c.425-1343G>T c.918G>T (p.Gln306His) c.*995G>T (n.*995G>T) | |
X | g.48904808C>G | CA412894113 | SLC35A2 | c.1101G>C (p.Gln367His) c.439G>C (p.Ala147Pro) c.511G>C (p.Ala171Pro) c.663G>C c.1185G>C (p.Gln395His) c.1140G>C (p.Gln380His) c.425-1343G>C c.918G>C (p.Gln306His) c.*995G>C (n.*995G>C) | |
X | g.48904808C>T | CA412894114 | SLC35A2 | c.1101G>A (p.Gln367=) c.439G>A (p.Ala147Thr) c.511G>A (p.Ala171Thr) c.663G>A c.1185G>A (p.Gln395=) c.1140G>A (p.Gln380=) c.425-1343G>A c.918G>A (p.Gln306=) c.*995G>A (n.*995G>A) | |
X | g.48904809T>A | CA412894115 | SLC35A2 | c.1100A>T (p.Gln367Leu) c.438A>T (p.Ala146=) c.510A>T (p.Ala170=) c.662A>T c.1184A>T (p.Gln395Leu) c.1139A>T (p.Gln380Leu) c.425-1344A>T c.917A>T (p.Gln306Leu) c.*994A>T (n.*994A>T) | |
X | g.48904809T>C | CA10406058 | SLC35A2 | c.1100A>G (p.Gln367Arg) c.438A>G (p.Ala146=) c.510A>G (p.Ala170=) c.662A>G c.1184A>G (p.Gln395Arg) c.1139A>G (p.Gln380Arg) c.425-1344A>G c.917A>G (p.Gln306Arg) c.*994A>G (n.*994A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904809T>G | CA412894116 | SLC35A2 | c.1100A>C (p.Gln367Pro) c.438A>C (p.Ala146=) c.510A>C (p.Ala170=) c.662A>C c.1184A>C (p.Gln395Pro) c.1139A>C (p.Gln380Pro) c.425-1344A>C c.917A>C (p.Gln306Pro) c.*994A>C (n.*994A>C) | |
X | g.48904809T= | CA2428428781 | SLC35A2 | c.1100A= (p.Gln367=) c.438A= (p.Ala146=) c.510A= (p.Ala170=) c.662A= c.1184A= (p.Gln395=) c.1139A= (p.Gln380=) c.425-1344A= c.917A= (p.Gln306=) c.*994A= (n.*994A=) | |
X | g.48904810G>A | CA412894118 | SLC35A2 | c.1099C>T (p.Gln367Ter) c.437C>T (p.Ala146Val) c.509C>T (p.Ala170Val) c.661C>T c.1183C>T (p.Gln395Ter) c.1138C>T (p.Gln380Ter) c.425-1345C>T c.916C>T (p.Gln306Ter) c.*993C>T (n.*993C>T) | |
X | g.48904810G>C | CA412894119 | SLC35A2 | c.1099C>G (p.Gln367Glu) c.437C>G (p.Ala146Gly) c.509C>G (p.Ala170Gly) c.661C>G c.1183C>G (p.Gln395Glu) c.1138C>G (p.Gln380Glu) c.425-1345C>G c.916C>G (p.Gln306Glu) c.*993C>G (n.*993C>G) | |
X | g.48904810G= | CA2428428782 | SLC35A2 | c.1099C= (p.Gln367=) c.437C= (p.Ala146=) c.509C= (p.Ala170=) c.661C= c.1183C= (p.Gln395=) c.1138C= (p.Gln380=) c.425-1345C= c.916C= (p.Gln306=) c.*993C= (n.*993C=) | |
X | g.48904810G>T | CA412894117 | SLC35A2 | c.1099C>A (p.Gln367Lys) c.437C>A (p.Ala146Glu) c.509C>A (p.Ala170Glu) c.661C>A c.1183C>A (p.Gln395Lys) c.1138C>A (p.Gln380Lys) c.425-1345C>A c.916C>A (p.Gln306Lys) c.*993C>A (n.*993C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48904811C>A | CA412894120 | SLC35A2 | c.1098G>T (p.Gly366=) c.436G>T (p.Ala146Ser) c.508G>T (p.Ala170Ser) c.660G>T c.1182G>T (p.Gly394=) c.1137G>T (p.Gly379=) c.425-1346G>T c.915G>T (p.Gly305=) c.*992G>T (n.*992G>T) | |
X | g.48904811C>G | CA412894121 | SLC35A2 | c.1098G>C (p.Gly366=) c.436G>C (p.Ala146Pro) c.508G>C (p.Ala170Pro) c.660G>C c.1182G>C (p.Gly394=) c.1137G>C (p.Gly379=) c.425-1346G>C c.915G>C (p.Gly305=) c.*992G>C (n.*992G>C) | |
X | g.48904811C>T | CA412894122 | SLC35A2 | c.1098G>A (p.Gly366=) c.436G>A (p.Ala146Thr) c.508G>A (p.Ala170Thr) c.660G>A c.1182G>A (p.Gly394=) c.1137G>A (p.Gly379=) c.425-1346G>A c.915G>A (p.Gly305=) c.*992G>A (n.*992G>A) | gnomAD v4 |
X | g.48904812C>A | CA412894123 | SLC35A2 | c.1097G>T (p.Gly366Val) c.435G>T (p.Arg145=) c.507G>T (p.Arg169=) c.659G>T c.1181G>T (p.Gly394Val) c.1136G>T (p.Gly379Val) c.425-1347G>T c.914G>T (p.Gly305Val) c.*991G>T (n.*991G>T) | |
X | g.48904812C= | CA2428428783 | SLC35A2 | c.1097G= (p.Gly366=) c.435G= (p.Arg145=) c.507G= (p.Arg169=) c.659G= c.1181G= (p.Gly394=) c.1136G= (p.Gly379=) c.425-1347G= c.914G= (p.Gly305=) c.*991G= (n.*991G=) | |
X | g.48904812C>G | CA412894124 | SLC35A2 | c.1097G>C (p.Gly366Ala) c.435G>C (p.Arg145=) c.507G>C (p.Arg169=) c.659G>C c.1181G>C (p.Gly394Ala) c.1136G>C (p.Gly379Ala) c.425-1347G>C c.914G>C (p.Gly305Ala) c.*991G>C (n.*991G>C) | |
X | g.48904812C>T | CA412894125 | SLC35A2 | c.1097G>A (p.Gly366Glu) c.435G>A (p.Arg145=) c.507G>A (p.Arg169=) c.659G>A c.1181G>A (p.Gly394Glu) c.1136G>A (p.Gly379Glu) c.425-1347G>A c.914G>A (p.Gly305Glu) c.*991G>A (n.*991G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48904813C>A | CA412894126 | SLC35A2 | c.1096G>T (p.Gly366Trp) c.434G>T (p.Arg145Leu) c.506G>T (p.Arg169Leu) c.658G>T c.1180G>T (p.Gly394Trp) c.1135G>T (p.Gly379Trp) c.425-1348G>T c.913G>T (p.Gly305Trp) c.*990G>T (n.*990G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48904813C= | CA2428428784 | SLC35A2 | c.1096G= (p.Gly366=) c.434G= (p.Arg145=) c.506G= (p.Arg169=) c.658G= c.1180G= (p.Gly394=) c.1135G= (p.Gly379=) c.425-1348G= c.913G= (p.Gly305=) c.*990G= (n.*990G=) | |
X | g.48904813C>G | CA10406059 | SLC35A2 | c.1096G>C (p.Gly366Arg) c.434G>C (p.Arg145Pro) c.506G>C (p.Arg169Pro) c.658G>C c.1180G>C (p.Gly394Arg) c.1135G>C (p.Gly379Arg) c.425-1348G>C c.913G>C (p.Gly305Arg) c.*990G>C (n.*990G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48904813C>T | CA329098571 | SLC35A2 | c.1096G>A (p.Gly366Arg) c.434G>A (p.Arg145Gln) c.506G>A (p.Arg169Gln) c.658G>A c.1180G>A (p.Gly394Arg) c.1135G>A (p.Gly379Arg) c.425-1348G>A c.913G>A (p.Gly305Arg) c.*990G>A (n.*990G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48904814G>A | CA412894127 | SLC35A2 | c.1095C>T (p.Pro365=) c.433C>T (p.Arg145Trp) c.505C>T (p.Arg169Trp) c.657C>T c.1179C>T (p.Pro393=) c.1134C>T (p.Pro378=) c.425-1349C>T c.912C>T (p.Pro304=) c.*989C>T (n.*989C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.48904814G>C | CA412894128 | SLC35A2 | c.1095C>G (p.Pro365=) c.433C>G (p.Arg145Gly) c.505C>G (p.Arg169Gly) c.657C>G c.1179C>G (p.Pro393=) c.1134C>G (p.Pro378=) c.425-1349C>G c.912C>G (p.Pro304=) c.*989C>G (n.*989C>G) | |
X | g.48904814G= | CA2428428785 | SLC35A2 | c.1095C= (p.Pro365=) c.433C= (p.Arg145=) c.505C= (p.Arg169=) c.657C= c.1179C= (p.Pro393=) c.1134C= (p.Pro378=) c.425-1349C= c.912C= (p.Pro304=) c.*989C= (n.*989C=) | |
X | g.48904814G>T | CA516359899 | SLC35A2 | c.1095C>A (p.Pro365=) c.433C>A (p.Arg145=) c.505C>A (p.Arg169=) c.657C>A c.1179C>A (p.Pro393=) c.1134C>A (p.Pro378=) c.425-1349C>A c.912C>A (p.Pro304=) c.*989C>A (n.*989C>A) | |
X | g.48904815G>A | CA412894129 | SLC35A2 | c.1094C>T (p.Pro365Leu) c.432C>T (p.Ser144=) c.504C>T (p.Ser168=) c.656C>T c.1178C>T (p.Pro393Leu) c.1133C>T (p.Pro378Leu) c.425-1350C>T c.911C>T (p.Pro304Leu) c.*988C>T (n.*988C>T) | |
X | g.48904815G>C | CA412894130 | SLC35A2 | c.1094C>G (p.Pro365Arg) c.432C>G (p.Ser144=) c.504C>G (p.Ser168=) c.656C>G c.1178C>G (p.Pro393Arg) c.1133C>G (p.Pro378Arg) c.425-1350C>G c.911C>G (p.Pro304Arg) c.*988C>G (n.*988C>G) | |
X | g.48904815G>T | CA412894131 | SLC35A2 | c.1094C>A (p.Pro365His) c.432C>A (p.Ser144=) c.504C>A (p.Ser168=) c.656C>A c.1178C>A (p.Pro393His) c.1133C>A (p.Pro378His) c.425-1350C>A c.911C>A (p.Pro304His) c.*988C>A (n.*988C>A) | |
X | g.48904816G>A | CA412894133 | SLC35A2 | c.1093C>T (p.Pro365Ser) c.431C>T (p.Ser144Phe) c.503C>T (p.Ser168Phe) c.655C>T c.1177C>T (p.Pro393Ser) c.1132C>T (p.Pro378Ser) c.425-1351C>T c.910C>T (p.Pro304Ser) c.*987C>T (n.*987C>T) | |
X | g.48904816G>C | CA412894134 | SLC35A2 | c.1093C>G (p.Pro365Ala) c.431C>G (p.Ser144Cys) c.503C>G (p.Ser168Cys) c.655C>G c.1177C>G (p.Pro393Ala) c.1132C>G (p.Pro378Ala) c.425-1351C>G c.910C>G (p.Pro304Ala) c.*987C>G (n.*987C>G) | |
X | g.48904816G>T | CA412894132 | SLC35A2 | c.1093C>A (p.Pro365Thr) c.431C>A (p.Ser144Tyr) c.503C>A (p.Ser168Tyr) c.655C>A c.1177C>A (p.Pro393Thr) c.1132C>A (p.Pro378Thr) c.425-1351C>A c.910C>A (p.Pro304Thr) c.*987C>A (n.*987C>A) | |
X | g.48904817del | CA2840092298 | SLC35A2 | c.1092del (p.Gln367SerfsTer27) c.430del (p.Ser144ProfsTer30) c.1092del (p.Gln367SerfsTer26) c.502del (p.Ser168ProfsTer?) c.654del c.502del (p.Ser168ProfsTer30) c.1176del (p.Gln395SerfsTer26) c.1131del (p.Gln380SerfsTer26) c.425-1352del c.909del (p.Gln306SerfsTer26) c.*986del (n.*986del) | |
X | g.48904817A>C | CA412894135 | SLC35A2 | c.1092T>G (p.Pro364=) c.430T>G (p.Ser144Ala) c.502T>G (p.Ser168Ala) c.654T>G c.1176T>G (p.Pro392=) c.1131T>G (p.Pro377=) c.425-1352T>G c.909T>G (p.Pro303=) c.*986T>G (n.*986T>G) | |
X | g.48904817A>G | CA412894136 | SLC35A2 | c.1092T>C (p.Pro364=) c.430T>C (p.Ser144Pro) c.502T>C (p.Ser168Pro) c.654T>C c.1176T>C (p.Pro392=) c.1131T>C (p.Pro377=) c.425-1352T>C c.909T>C (p.Pro303=) c.*986T>C (n.*986T>C) | |
X | g.48904817A>T | CA412894137 | SLC35A2 | c.1092T>A (p.Pro364=) c.430T>A (p.Ser144Thr) c.502T>A (p.Ser168Thr) c.654T>A c.1176T>A (p.Pro392=) c.1131T>A (p.Pro377=) c.425-1352T>A c.909T>A (p.Pro303=) c.*986T>A (n.*986T>A) | |
X | g.48904818G>A | CA412894138 | SLC35A2 | c.1091C>T (p.Pro364Leu) c.429C>T (p.Ala143=) c.501C>T (p.Ala167=) c.653C>T c.1175C>T (p.Pro392Leu) c.1130C>T (p.Pro377Leu) c.425-1353C>T c.908C>T (p.Pro303Leu) c.*985C>T (n.*985C>T) | dbSNP gnomAD v4 |
X | g.48904818G>C | CA412894139 | SLC35A2 | c.1091C>G (p.Pro364Arg) c.429C>G (p.Ala143=) c.501C>G (p.Ala167=) c.653C>G c.1175C>G (p.Pro392Arg) c.1130C>G (p.Pro377Arg) c.425-1353C>G c.908C>G (p.Pro303Arg) c.*985C>G (n.*985C>G) | |
X | g.48904818G= | CA2428428786 | SLC35A2 | c.1091C= (p.Pro364=) c.429C= (p.Ala143=) c.501C= (p.Ala167=) c.653C= c.1175C= (p.Pro392=) c.1130C= (p.Pro377=) c.425-1353C= c.908C= (p.Pro303=) c.*985C= (n.*985C=) | |
X | g.48904818G>T | CA412894140 | SLC35A2 | c.1091C>A (p.Pro364His) c.429C>A (p.Ala143=) c.501C>A (p.Ala167=) c.653C>A c.1175C>A (p.Pro392His) c.1130C>A (p.Pro377His) c.425-1353C>A c.908C>A (p.Pro303His) c.*985C>A (n.*985C>A) | |
X | g.48904819G>A | CA412894143 | SLC35A2 | c.1090C>T (p.Pro364Ser) c.428C>T (p.Ala143Val) c.500C>T (p.Ala167Val) c.652C>T c.1174C>T (p.Pro392Ser) c.1129C>T (p.Pro377Ser) c.425-1354C>T c.907C>T (p.Pro303Ser) c.*984C>T (n.*984C>T) | ClinVar gnomAD v4 |
X | g.48904819G>C | CA412894141 | SLC35A2 | c.1090C>G (p.Pro364Ala) c.428C>G (p.Ala143Gly) c.500C>G (p.Ala167Gly) c.652C>G c.1174C>G (p.Pro392Ala) c.1129C>G (p.Pro377Ala) c.425-1354C>G c.907C>G (p.Pro303Ala) c.*984C>G (n.*984C>G) | |
X | g.48904819G>T | CA412894142 | SLC35A2 | c.1090C>A (p.Pro364Thr) c.428C>A (p.Ala143Asp) c.500C>A (p.Ala167Asp) c.652C>A c.1174C>A (p.Pro392Thr) c.1129C>A (p.Pro377Thr) c.425-1354C>A c.907C>A (p.Pro303Thr) c.*984C>A (n.*984C>A) | |
X | g.48904820C>A | CA412894144 | SLC35A2 | c.1089G>T (p.Gln363His) c.427G>T (p.Ala143Ser) c.499G>T (p.Ala167Ser) c.651G>T c.1173G>T (p.Gln391His) c.1128G>T (p.Gln376His) c.425-1355G>T c.906G>T (p.Gln302His) c.*983G>T (n.*983G>T) | |
X | g.48904820C>G | CA412894145 | SLC35A2 | c.1089G>C (p.Gln363His) c.427G>C (p.Ala143Pro) c.499G>C (p.Ala167Pro) c.651G>C c.1173G>C (p.Gln391His) c.1128G>C (p.Gln376His) c.425-1355G>C c.906G>C (p.Gln302His) c.*983G>C (n.*983G>C) | |
X | g.48904820C>T | CA412894146 | SLC35A2 | c.1089G>A (p.Gln363=) c.427G>A (p.Ala143Thr) c.499G>A (p.Ala167Thr) c.651G>A c.1173G>A (p.Gln391=) c.1128G>A (p.Gln376=) c.425-1355G>A c.906G>A (p.Gln302=) c.*983G>A (n.*983G>A) | |
X | g.48904821T>A | CA412894147 | SLC35A2 | c.1088A>T (p.Gln363Leu) c.426A>T (p.Ala142=) c.498A>T (p.Ala166=) c.650A>T c.1172A>T (p.Gln391Leu) c.1127A>T (p.Gln376Leu) c.425-1356A>T c.905A>T (p.Gln302Leu) c.*982A>T (n.*982A>T) | |
X | g.48904821T>C | CA412894148 | SLC35A2 | c.1088A>G (p.Gln363Arg) c.426A>G (p.Ala142=) c.498A>G (p.Ala166=) c.650A>G c.1172A>G (p.Gln391Arg) c.1127A>G (p.Gln376Arg) c.425-1356A>G c.905A>G (p.Gln302Arg) c.*982A>G (n.*982A>G) | |
X | g.48904821T>G | CA412894149 | SLC35A2 | c.1088A>C (p.Gln363Pro) c.426A>C (p.Ala142=) c.498A>C (p.Ala166=) c.650A>C c.1172A>C (p.Gln391Pro) c.1127A>C (p.Gln376Pro) c.425-1356A>C c.905A>C (p.Gln302Pro) c.*982A>C (n.*982A>C) | |
X | g.48904822G>A | CA412894150 | SLC35A2 | c.1087C>T (p.Gln363Ter) c.425C>T (p.Ala142Val) c.497C>T (p.Ala166Val) c.649C>T c.1171C>T (p.Gln391Ter) c.1126C>T (p.Gln376Ter) c.425-1357C>T c.904C>T (p.Gln302Ter) c.*981C>T (n.*981C>T) | |
X | g.48904822G>C | CA412894152 | SLC35A2 | c.1087C>G (p.Gln363Glu) c.425C>G (p.Ala142Gly) c.497C>G (p.Ala166Gly) c.649C>G c.1171C>G (p.Gln391Glu) c.1126C>G (p.Gln376Glu) c.425-1357C>G c.904C>G (p.Gln302Glu) c.*981C>G (n.*981C>G) | |
X | g.48904822G>T | CA412894151 | SLC35A2 | c.1087C>A (p.Gln363Lys) c.425C>A (p.Ala142Glu) c.497C>A (p.Ala166Glu) c.649C>A c.1171C>A (p.Gln391Lys) c.1126C>A (p.Gln376Lys) c.425-1357C>A c.904C>A (p.Gln302Lys) c.*981C>A (n.*981C>A) | |
X | g.48904823C>A | CA412894153 | SLC35A2 | c.1086G>T (p.Gln362His) c.424G>T (p.Ala142Ser) c.496G>T (p.Ala166Ser) c.648G>T c.1170G>T (p.Gln390His) c.1125G>T (p.Gln375His) c.425-1358G>T c.903G>T (p.Gln301His) c.*980G>T (n.*980G>T) | |
X | g.48904823C>G | CA412894154 | SLC35A2 | c.1086G>C (p.Gln362His) c.424G>C (p.Ala142Pro) c.496G>C (p.Ala166Pro) c.648G>C c.1170G>C (p.Gln390His) c.1125G>C (p.Gln375His) c.425-1358G>C c.903G>C (p.Gln301His) c.*980G>C (n.*980G>C) | |
X | g.48904823C>T | CA412894155 | SLC35A2 | c.1086G>A (p.Gln362=) c.424G>A (p.Ala142Thr) c.496G>A (p.Ala166Thr) c.648G>A c.1170G>A (p.Gln390=) c.1125G>A (p.Gln375=) c.425-1358G>A c.903G>A (p.Gln301=) c.*980G>A (n.*980G>A) | |
X | g.48904824T>A | CA412894156 | SLC35A2 | c.1085A>T (p.Gln362Leu) c.423A>T (p.Pro141=) c.495A>T (p.Pro165=) c.647A>T c.1169A>T (p.Gln390Leu) c.1124A>T (p.Gln375Leu) c.425-1359A>T c.902A>T (p.Gln301Leu) c.*979A>T (n.*979A>T) | |
X | g.48904824T>C | CA412894157 | SLC35A2 | c.1085A>G (p.Gln362Arg) c.423A>G (p.Pro141=) c.495A>G (p.Pro165=) c.647A>G c.1169A>G (p.Gln390Arg) c.1124A>G (p.Gln375Arg) c.425-1359A>G c.902A>G (p.Gln301Arg) c.*979A>G (n.*979A>G) | |
X | g.48904824T>G | CA412894158 | SLC35A2 | c.1085A>C (p.Gln362Pro) c.423A>C (p.Pro141=) c.495A>C (p.Pro165=) c.647A>C c.1169A>C (p.Gln390Pro) c.1124A>C (p.Gln375Pro) c.425-1359A>C c.902A>C (p.Gln301Pro) c.*979A>C (n.*979A>C) | |
X | g.48904825G>A | CA412894159 | SLC35A2 | c.1084C>T (p.Gln362Ter) c.422C>T (p.Pro141Leu) c.494C>T (p.Pro165Leu) c.646C>T c.1168C>T (p.Gln390Ter) c.1123C>T (p.Gln375Ter) c.425-1360C>T c.901C>T (p.Gln301Ter) c.*978C>T (n.*978C>T) | |
X | g.48904825G>C | CA412894160 | SLC35A2 | c.1084C>G (p.Gln362Glu) c.422C>G (p.Pro141Arg) c.494C>G (p.Pro165Arg) c.646C>G c.1168C>G (p.Gln390Glu) c.1123C>G (p.Gln375Glu) c.425-1360C>G c.901C>G (p.Gln301Glu) c.*978C>G (n.*978C>G) | |
X | g.48904825G= | CA2428428787 | SLC35A2 | c.1084C= (p.Gln362=) c.422C= (p.Pro141=) c.494C= (p.Pro165=) c.646C= c.1168C= (p.Gln390=) c.1123C= (p.Gln375=) c.425-1360C= c.901C= (p.Gln301=) c.*978C= (n.*978C=) | |
X | g.48904825G>T | CA412894161 | SLC35A2 | c.1084C>A (p.Gln362Lys) c.422C>A (p.Pro141Gln) c.494C>A (p.Pro165Gln) c.646C>A c.1168C>A (p.Gln390Lys) c.1123C>A (p.Gln375Lys) c.425-1360C>A c.901C>A (p.Gln301Lys) c.*978C>A (n.*978C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904826G>A | CA412894162 | SLC35A2 | c.1083C>T (p.His361=) c.421C>T (p.Pro141Ser) c.493C>T (p.Pro165Ser) c.645C>T c.1167C>T (p.His389=) c.1122C>T (p.His374=) c.425-1361C>T c.900C>T (p.His300=) c.*977C>T (n.*977C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904826G>C | CA412894163 | SLC35A2 | c.1083C>G (p.His361Gln) c.421C>G (p.Pro141Ala) c.493C>G (p.Pro165Ala) c.645C>G c.1167C>G (p.His389Gln) c.1122C>G (p.His374Gln) c.425-1361C>G c.900C>G (p.His300Gln) c.*977C>G (n.*977C>G) | |
X | g.48904826G= | CA2428428788 | SLC35A2 | c.1083C= (p.His361=) c.421C= (p.Pro141=) c.493C= (p.Pro165=) c.645C= c.1167C= (p.His389=) c.1122C= (p.His374=) c.425-1361C= c.900C= (p.His300=) c.*977C= (n.*977C=) | |
X | g.48904826G>T | CA412894164 | SLC35A2 | c.1083C>A (p.His361Gln) c.421C>A (p.Pro141Thr) c.493C>A (p.Pro165Thr) c.645C>A c.1167C>A (p.His389Gln) c.1122C>A (p.His374Gln) c.425-1361C>A c.900C>A (p.His300Gln) c.*977C>A (n.*977C>A) | |
X | g.48904827T>A | CA412894167 | SLC35A2 | c.1082A>T (p.His361Leu) c.420A>T (p.Ser140=) c.492A>T (p.Ser164=) c.644A>T c.1166A>T (p.His389Leu) c.1121A>T (p.His374Leu) c.425-1362A>T c.899A>T (p.His300Leu) c.*976A>T (n.*976A>T) | |
X | g.48904827T>C | CA412894165 | SLC35A2 | c.1082A>G (p.His361Arg) c.420A>G (p.Ser140=) c.492A>G (p.Ser164=) c.644A>G c.1166A>G (p.His389Arg) c.1121A>G (p.His374Arg) c.425-1362A>G c.899A>G (p.His300Arg) c.*976A>G (n.*976A>G) | |
X | g.48904827T>G | CA412894166 | SLC35A2 | c.1082A>C (p.His361Pro) c.420A>C (p.Ser140=) c.492A>C (p.Ser164=) c.644A>C c.1166A>C (p.His389Pro) c.1121A>C (p.His374Pro) c.425-1362A>C c.899A>C (p.His300Pro) c.*976A>C (n.*976A>C) | |
X | g.48904828G>A | CA412894168 | SLC35A2 | c.1081C>T (p.His361Tyr) c.419C>T (p.Ser140Leu) c.491C>T (p.Ser164Leu) c.643C>T c.1165C>T (p.His389Tyr) c.1120C>T (p.His374Tyr) c.425-1363C>T c.898C>T (p.His300Tyr) c.*975C>T (n.*975C>T) | |
X | g.48904828G>C | CA412894169 | SLC35A2 | c.1081C>G (p.His361Asp) c.419C>G (p.Ser140Ter) c.491C>G (p.Ser164Ter) c.643C>G c.1165C>G (p.His389Asp) c.1120C>G (p.His374Asp) c.425-1363C>G c.898C>G (p.His300Asp) c.*975C>G (n.*975C>G) | |
X | g.48904828G>T | CA412894170 | SLC35A2 | c.1081C>A (p.His361Asn) c.419C>A (p.Ser140Ter) c.491C>A (p.Ser164Ter) c.643C>A c.1165C>A (p.His389Asn) c.1120C>A (p.His374Asn) c.425-1363C>A c.898C>A (p.His300Asn) c.*975C>A (n.*975C>A) | |
X | g.48904829A>C | CA412894171 | SLC35A2 | c.1080T>G (p.Val360=) c.418T>G (p.Ser140Ala) c.490T>G (p.Ser164Ala) c.642T>G c.1164T>G (p.Val388=) c.1119T>G (p.Val373=) c.425-1364T>G c.897T>G (p.Val299=) c.*974T>G (n.*974T>G) | |
X | g.48904829A>G | CA412894172 | SLC35A2 | c.1080T>C (p.Val360=) c.418T>C (p.Ser140Pro) c.490T>C (p.Ser164Pro) c.642T>C c.1164T>C (p.Val388=) c.1119T>C (p.Val373=) c.425-1364T>C c.897T>C (p.Val299=) c.*974T>C (n.*974T>C) | |
X | g.48904829A>T | CA412894173 | SLC35A2 | c.1080T>A (p.Val360=) c.418T>A (p.Ser140Thr) c.490T>A (p.Ser164Thr) c.642T>A c.1164T>A (p.Val388=) c.1119T>A (p.Val373=) c.425-1364T>A c.897T>A (p.Val299=) c.*974T>A (n.*974T>A) | |
X | g.48904830A= | CA2428428789 | SLC35A2 | c.1079T= (p.Val360=) c.417T= (p.Arg139=) c.489T= (p.Arg163=) c.641T= c.1163T= (p.Val388=) c.1118T= (p.Val373=) c.425-1365T= c.896T= (p.Val299=) c.*973T= (n.*973T=) | |
X | g.48904830A>C | CA412894176 | SLC35A2 | c.1079T>G (p.Val360Gly) c.417T>G (p.Arg139=) c.489T>G (p.Arg163=) c.641T>G c.1163T>G (p.Val388Gly) c.1118T>G (p.Val373Gly) c.425-1365T>G c.896T>G (p.Val299Gly) c.*973T>G (n.*973T>G) | |
X | g.48904830A>G | CA412894175 | SLC35A2 | c.1079T>C (p.Val360Ala) c.417T>C (p.Arg139=) c.489T>C (p.Arg163=) c.641T>C c.1163T>C (p.Val388Ala) c.1118T>C (p.Val373Ala) c.425-1365T>C c.896T>C (p.Val299Ala) c.*973T>C (n.*973T>C) | dbSNP |
X | g.48904830A>T | CA412894174 | SLC35A2 | c.1079T>A (p.Val360Asp) c.417T>A (p.Arg139=) c.489T>A (p.Arg163=) c.641T>A c.1163T>A (p.Val388Asp) c.1118T>A (p.Val373Asp) c.425-1365T>A c.896T>A (p.Val299Asp) c.*973T>A (n.*973T>A) | |
X | g.48904831C>A | CA412894177 | SLC35A2 | c.1078G>T (p.Val360Phe) c.416G>T (p.Arg139Leu) c.488G>T (p.Arg163Leu) c.640G>T c.1162G>T (p.Val388Phe) c.1117G>T (p.Val373Phe) c.425-1366G>T c.895G>T (p.Val299Phe) c.*972G>T (n.*972G>T) | |
X | g.48904831C= | CA2428428790 | SLC35A2 | c.1078G= (p.Val360=) c.416G= (p.Arg139=) c.488G= (p.Arg163=) c.640G= c.1162G= (p.Val388=) c.1117G= (p.Val373=) c.425-1366G= c.895G= (p.Val299=) c.*972G= (n.*972G=) | |
X | g.48904831C>G | CA412894178 | SLC35A2 | c.1078G>C (p.Val360Leu) c.416G>C (p.Arg139Pro) c.488G>C (p.Arg163Pro) c.640G>C c.1162G>C (p.Val388Leu) c.1117G>C (p.Val373Leu) c.425-1366G>C c.895G>C (p.Val299Leu) c.*972G>C (n.*972G>C) | ClinVar |
X | g.48904831C>T | CA10406060 | SLC35A2 | c.1078G>A (p.Val360Ile) c.416G>A (p.Arg139His) c.488G>A (p.Arg163His) c.640G>A c.1162G>A (p.Val388Ile) c.1117G>A (p.Val373Ile) c.425-1366G>A c.895G>A (p.Val299Ile) c.*972G>A (n.*972G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904832G>A | CA412894179 | SLC35A2 | c.1077C>T (p.Cys359=) c.415C>T (p.Arg139Cys) c.487C>T (p.Arg163Cys) c.639C>T c.1161C>T (p.Cys387=) c.1116C>T (p.Cys372=) c.425-1367C>T c.894C>T (p.Cys298=) c.*971C>T (n.*971C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48904832G>C | CA412894180 | SLC35A2 | c.1077C>G (p.Cys359Trp) c.415C>G (p.Arg139Gly) c.487C>G (p.Arg163Gly) c.639C>G c.1161C>G (p.Cys387Trp) c.1116C>G (p.Cys372Trp) c.425-1367C>G c.894C>G (p.Cys298Trp) c.*971C>G (n.*971C>G) | |
X | g.48904832G= | CA2428428791 | SLC35A2 | c.1077C= (p.Cys359=) c.415C= (p.Arg139=) c.487C= (p.Arg163=) c.639C= c.1161C= (p.Cys387=) c.1116C= (p.Cys372=) c.425-1367C= c.894C= (p.Cys298=) c.*971C= (n.*971C=) | |
X | g.48904832G>T | CA412894181 | SLC35A2 | c.1077C>A (p.Cys359Ter) c.415C>A (p.Arg139Ser) c.487C>A (p.Arg163Ser) c.639C>A c.1161C>A (p.Cys387Ter) c.1116C>A (p.Cys372Ter) c.425-1367C>A c.894C>A (p.Cys298Ter) c.*971C>A (n.*971C>A) | gnomAD v4 |
X | g.48904833C>A | CA412894182 | SLC35A2 | c.1076G>T (p.Cys359Phe) c.414G>T (p.Leu138=) c.486G>T (p.Leu162=) c.638G>T c.1160G>T (p.Cys387Phe) c.1115G>T (p.Cys372Phe) c.425-1368G>T c.893G>T (p.Cys298Phe) c.*970G>T (n.*970G>T) | |
X | g.48904833C>G | CA412894184 | SLC35A2 | c.1076G>C (p.Cys359Ser) c.414G>C (p.Leu138=) c.486G>C (p.Leu162=) c.638G>C c.1160G>C (p.Cys387Ser) c.1115G>C (p.Cys372Ser) c.425-1368G>C c.893G>C (p.Cys298Ser) c.*970G>C (n.*970G>C) | |
X | g.48904833C>T | CA412894183 | SLC35A2 | c.1076G>A (p.Cys359Tyr) c.414G>A (p.Leu138=) c.486G>A (p.Leu162=) c.638G>A c.1160G>A (p.Cys387Tyr) c.1115G>A (p.Cys372Tyr) c.425-1368G>A c.893G>A (p.Cys298Tyr) c.*970G>A (n.*970G>A) | |
X | g.48904834A>C | CA412894185 | SLC35A2 | c.1075T>G (p.Cys359Gly) c.413T>G (p.Leu138Arg) c.485T>G (p.Leu162Arg) c.637T>G c.1159T>G (p.Cys387Gly) c.1114T>G (p.Cys372Gly) c.425-1369T>G c.892T>G (p.Cys298Gly) c.*969T>G (n.*969T>G) | |
X | g.48904834A>G | CA412894186 | SLC35A2 | c.1075T>C (p.Cys359Arg) c.413T>C (p.Leu138Pro) c.485T>C (p.Leu162Pro) c.637T>C c.1159T>C (p.Cys387Arg) c.1114T>C (p.Cys372Arg) c.425-1369T>C c.892T>C (p.Cys298Arg) c.*969T>C (n.*969T>C) | |
X | g.48904834A>T | CA412894187 | SLC35A2 | c.1075T>A (p.Cys359Ser) c.413T>A (p.Leu138Gln) c.485T>A (p.Leu162Gln) c.637T>A c.1159T>A (p.Cys387Ser) c.1114T>A (p.Cys372Ser) c.425-1369T>A c.892T>A (p.Cys298Ser) c.*969T>A (n.*969T>A) | |
X | g.48904835G>A | CA516359914 | SLC35A2 | c.1074C>T (p.Pro358=) c.412C>T (p.Leu138=) c.484C>T (p.Leu162=) c.636C>T c.1158C>T (p.Pro386=) c.1113C>T (p.Pro371=) c.425-1370C>T c.891C>T (p.Pro297=) c.*968C>T (n.*968C>T) | |
X | g.48904835G>C | CA412894188 | SLC35A2 | c.1074C>G (p.Pro358=) c.412C>G (p.Leu138Val) c.484C>G (p.Leu162Val) c.636C>G c.1158C>G (p.Pro386=) c.1113C>G (p.Pro371=) c.425-1370C>G c.891C>G (p.Pro297=) c.*968C>G (n.*968C>G) | |
X | g.48904835G>T | CA412894189 | SLC35A2 | c.1074C>A (p.Pro358=) c.412C>A (p.Leu138Met) c.484C>A (p.Leu162Met) c.636C>A c.1158C>A (p.Pro386=) c.1113C>A (p.Pro371=) c.425-1370C>A c.891C>A (p.Pro297=) c.*968C>A (n.*968C>A) | |
X | g.48904836G>A | CA412894190 | SLC35A2 | c.1073C>T (p.Pro358Leu) c.411C>T (p.Ala137=) c.483C>T (p.Ala161=) c.635C>T c.1157C>T (p.Pro386Leu) c.1112C>T (p.Pro371Leu) c.425-1371C>T c.890C>T (p.Pro297Leu) c.*967C>T (n.*967C>T) | ClinVar dbSNP gnomAD v4 |
X | g.48904836G>C | CA412894191 | SLC35A2 | c.1073C>G (p.Pro358Arg) c.411C>G (p.Ala137=) c.483C>G (p.Ala161=) c.635C>G c.1157C>G (p.Pro386Arg) c.1112C>G (p.Pro371Arg) c.425-1371C>G c.890C>G (p.Pro297Arg) c.*967C>G (n.*967C>G) | |
X | g.48904836G>T | CA412894192 | SLC35A2 | c.1073C>A (p.Pro358His) c.411C>A (p.Ala137=) c.483C>A (p.Ala161=) c.635C>A c.1157C>A (p.Pro386His) c.1112C>A (p.Pro371His) c.425-1371C>A c.890C>A (p.Pro297His) c.*967C>A (n.*967C>A) | |
X | g.48904837G>A | CA412894193 | SLC35A2 | c.1072C>T (p.Pro358Ser) c.410C>T (p.Ala137Val) c.482C>T (p.Ala161Val) c.634C>T c.1156C>T (p.Pro386Ser) c.1111C>T (p.Pro371Ser) c.425-1372C>T c.889C>T (p.Pro297Ser) c.*966C>T (n.*966C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48904837G>C | CA412894194 | SLC35A2 | c.1072C>G (p.Pro358Ala) c.410C>G (p.Ala137Gly) c.482C>G (p.Ala161Gly) c.634C>G c.1156C>G (p.Pro386Ala) c.1111C>G (p.Pro371Ala) c.425-1372C>G c.889C>G (p.Pro297Ala) c.*966C>G (n.*966C>G) | |
X | g.48904837G= | CA2428428792 | SLC35A2 | c.1072C= (p.Pro358=) c.410C= (p.Ala137=) c.482C= (p.Ala161=) c.634C= c.1156C= (p.Pro386=) c.1111C= (p.Pro371=) c.425-1372C= c.889C= (p.Pro297=) c.*966C= (n.*966C=) | |
X | g.48904837G>T | CA412894195 | SLC35A2 | c.1072C>A (p.Pro358Thr) c.410C>A (p.Ala137Asp) c.482C>A (p.Ala161Asp) c.634C>A c.1156C>A (p.Pro386Thr) c.1111C>A (p.Pro371Thr) c.425-1372C>A c.889C>A (p.Pro297Thr) c.*966C>A (n.*966C>A) | |
X | g.48904838C>A | CA412894197 | SLC35A2 | c.1071G>T (p.Gly357=) c.409G>T (p.Ala137Ser) c.481G>T (p.Ala161Ser) c.633G>T c.1155G>T (p.Gly385=) c.1110G>T (p.Gly370=) c.425-1373G>T c.888G>T (p.Gly296=) c.*965G>T (n.*965G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904838C= | CA2428428793 | SLC35A2 | c.1071G= (p.Gly357=) c.409G= (p.Ala137=) c.481G= (p.Ala161=) c.633G= c.1155G= (p.Gly385=) c.1110G= (p.Gly370=) c.425-1373G= c.888G= (p.Gly296=) c.*965G= (n.*965G=) | |
X | g.48904838C>G | CA412894201 | SLC35A2 | c.1071G>C (p.Gly357=) c.409G>C (p.Ala137Pro) c.481G>C (p.Ala161Pro) c.633G>C c.1155G>C (p.Gly385=) c.1110G>C (p.Gly370=) c.425-1373G>C c.888G>C (p.Gly296=) c.*965G>C (n.*965G>C) | |
X | g.48904838C>T | CA412894199 | SLC35A2 | c.1071G>A (p.Gly357=) c.409G>A (p.Ala137Thr) c.481G>A (p.Ala161Thr) c.633G>A c.1155G>A (p.Gly385=) c.1110G>A (p.Gly370=) c.425-1373G>A c.888G>A (p.Gly296=) c.*965G>A (n.*965G>A) | |
X | g.48904838_48904844delinsCCCGGAG | CA2428428794 | SLC35A2 | c.1065_1071delinsCTCCGGG (p.Ala355=) c.403_409delinsCTCCGGG (p.Leu135=) c.475_481delinsCTCCGGG (p.Leu159=) c.627_633delinsCTCCGGG c.1149_1155delinsCTCCGGG (p.Ala383=) c.1104_1110delinsCTCCGGG (p.Ala368=) c.425-1379_425-1373delinsCTCCGGG c.882_888delinsCTCCGGG (p.Ala294=) c.*959_*965delinsCTCCGGG (n.*959_*965delinsCTCCGGG) | |
X | g.48904839C>A | CA412894203 | SLC35A2 | c.1070G>T (p.Gly357Val) c.408G>T (p.Arg136=) c.480G>T (p.Arg160=) c.632G>T c.1154G>T (p.Gly385Val) c.1109G>T (p.Gly370Val) c.425-1374G>T c.887G>T (p.Gly296Val) c.*964G>T (n.*964G>T) | |
X | g.48904839C= | CA2428428796 | SLC35A2 | c.1070G= (p.Gly357=) c.408G= (p.Arg136=) c.480G= (p.Arg160=) c.632G= c.1154G= (p.Gly385=) c.1109G= (p.Gly370=) c.425-1374G= c.887G= (p.Gly296=) c.*964G= (n.*964G=) | |
X | g.48904839C>G | CA412894205 | SLC35A2 | c.1070G>C (p.Gly357Ala) c.408G>C (p.Arg136=) c.480G>C (p.Arg160=) c.632G>C c.1154G>C (p.Gly385Ala) c.1109G>C (p.Gly370Ala) c.425-1374G>C c.887G>C (p.Gly296Ala) c.*964G>C (n.*964G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48904839C>T | CA412894206 | SLC35A2 | c.1070G>A (p.Gly357Glu) c.408G>A (p.Arg136=) c.480G>A (p.Arg160=) c.632G>A c.1154G>A (p.Gly385Glu) c.1109G>A (p.Gly370Glu) c.425-1374G>A c.887G>A (p.Gly296Glu) c.*964G>A (n.*964G>A) | |
X | g.48904839_48904844del | CA641902148 | SLC35A2 | c.1065_1070del (p.Ser356_Gly357del) c.403_408del (p.Leu135_Arg136del) c.475_480del (p.Leu159_Arg160del) c.627_632del c.1149_1154del (p.Ser384_Gly385del) c.1104_1109del (p.Ser369_Gly370del) c.425-1379_425-1374del c.882_887del (p.Ser295_Gly296del) c.*959_*964del (n.*959_*964del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904839_48904845delinsCCGGAGG | CA2428428795 | SLC35A2 | c.1064_1070delinsCCTCCGG (p.Ala355=) c.402_408delinsCCTCCGG (p.Arg134=) c.474_480delinsCCTCCGG (p.Arg158=) c.626_632delinsCCTCCGG c.1148_1154delinsCCTCCGG (p.Ala383=) c.1103_1109delinsCCTCCGG (p.Ala368=) c.425-1380_425-1374delinsCCTCCGG c.881_887delinsCCTCCGG (p.Ala294=) c.*958_*964delinsCCTCCGG (n.*958_*964delinsCCTCCGG) | |
X | g.48904840C>A | CA412894211 | SLC35A2 | c.1069G>T (p.Gly357Trp) c.407G>T (p.Arg136Leu) c.479G>T (p.Arg160Leu) c.631G>T c.1153G>T (p.Gly385Trp) c.1108G>T (p.Gly370Trp) c.425-1375G>T c.886G>T (p.Gly296Trp) c.*963G>T (n.*963G>T) | gnomAD v4 |
X | g.48904840C= | CA2428428797 | SLC35A2 | c.1069G= (p.Gly357=) c.407G= (p.Arg136=) c.479G= (p.Arg160=) c.631G= c.1153G= (p.Gly385=) c.1108G= (p.Gly370=) c.425-1375G= c.886G= (p.Gly296=) c.*963G= (n.*963G=) | |
X | g.48904840C>G | CA10406062 | SLC35A2 | c.1069G>C (p.Gly357Arg) c.407G>C (p.Arg136Pro) c.479G>C (p.Arg160Pro) c.631G>C c.1153G>C (p.Gly385Arg) c.1108G>C (p.Gly370Arg) c.425-1375G>C c.886G>C (p.Gly296Arg) c.*963G>C (n.*963G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48904840C>T | CA10406063 | SLC35A2 | c.1069G>A (p.Gly357Arg) c.407G>A (p.Arg136Gln) c.479G>A (p.Arg160Gln) c.631G>A c.1153G>A (p.Gly385Arg) c.1108G>A (p.Gly370Arg) c.425-1375G>A c.886G>A (p.Gly296Arg) c.*963G>A (n.*963G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904847_48904852dup | CA641902149 | SLC35A2 | c.1064_1069dup (p.Ser356_Gly357insAlaSer) c.402_407dup (p.Arg136_Ala137insLeuArg) c.474_479dup (p.Arg160_Ala161insLeuArg) c.626_631dup c.1148_1153dup (p.Ser384_Gly385insAlaSer) c.1103_1108dup (p.Ser369_Gly370insAlaSer) c.425-1380_425-1375dup c.881_886dup (p.Ser295_Gly296insAlaSer) c.*958_*963dup (n.*958_*963dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904847_48904852del | CA10406061 | SLC35A2 | c.1064_1069del (p.Ala355_Ser356del) c.402_407del (p.Leu135_Arg136del) c.474_479del (p.Leu159_Arg160del) c.626_631del c.1148_1153del (p.Ala383_Ser384del) c.1103_1108del (p.Ala368_Ser369del) c.425-1380_425-1375del c.881_886del (p.Ala294_Ser295del) c.*958_*963del (n.*958_*963del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904841G>A | CA10406064 | SLC35A2 | c.1068C>T (p.Ser356=) c.406C>T (p.Arg136Trp) c.478C>T (p.Arg160Trp) c.630C>T c.1152C>T (p.Ser384=) c.1107C>T (p.Ser369=) c.425-1376C>T c.885C>T (p.Ser295=) c.*962C>T (n.*962C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904841G>C | CA412894214 | SLC35A2 | c.1068C>G (p.Ser356=) c.406C>G (p.Arg136Gly) c.478C>G (p.Arg160Gly) c.630C>G c.1152C>G (p.Ser384=) c.1107C>G (p.Ser369=) c.425-1376C>G c.885C>G (p.Ser295=) c.*962C>G (n.*962C>G) | |
X | g.48904841G= | CA2428428798 | SLC35A2 | c.1068C= (p.Ser356=) c.406C= (p.Arg136=) c.478C= (p.Arg160=) c.630C= c.1152C= (p.Ser384=) c.1107C= (p.Ser369=) c.425-1376C= c.885C= (p.Ser295=) c.*962C= (n.*962C=) | |
X | g.48904841G>T | CA516359919 | SLC35A2 | c.1068C>A (p.Ser356=) c.406C>A (p.Arg136=) c.478C>A (p.Arg160=) c.630C>A c.1152C>A (p.Ser384=) c.1107C>A (p.Ser369=) c.425-1376C>A c.885C>A (p.Ser295=) c.*962C>A (n.*962C>A) | |
X | g.48904842dup | CA2840092300 | SLC35A2 | c.1068dup (p.Gly357ArgfsTer?) c.406dup (p.Arg136ProfsTer?) c.478dup (p.Arg160ProfsTer?) c.630dup c.1152dup (p.Gly385ArgfsTer?) c.1107dup (p.Gly370ArgfsTer?) c.425-1376dup c.885dup (p.Gly296ArgfsTer?) c.*962dup (n.*962dup) | |
X | g.48904842G>A | CA412894216 | SLC35A2 | c.1067C>T (p.Ser356Phe) c.405C>T (p.Leu135=) c.477C>T (p.Leu159=) c.629C>T c.1151C>T (p.Ser384Phe) c.1106C>T (p.Ser369Phe) c.425-1377C>T c.884C>T (p.Ser295Phe) c.*961C>T (n.*961C>T) | |
X | g.48904842G>C | CA412894218 | SLC35A2 | c.1067C>G (p.Ser356Cys) c.405C>G (p.Leu135=) c.477C>G (p.Leu159=) c.629C>G c.1151C>G (p.Ser384Cys) c.1106C>G (p.Ser369Cys) c.425-1377C>G c.884C>G (p.Ser295Cys) c.*961C>G (n.*961C>G) | |
X | g.48904842G= | CA2428428799 | SLC35A2 | c.1067C= (p.Ser356=) c.405C= (p.Leu135=) c.477C= (p.Leu159=) c.629C= c.1151C= (p.Ser384=) c.1106C= (p.Ser369=) c.425-1377C= c.884C= (p.Ser295=) c.*961C= (n.*961C=) | |
X | g.48904842G>T | CA412894220 | SLC35A2 | c.1067C>A (p.Ser356Tyr) c.405C>A (p.Leu135=) c.477C>A (p.Leu159=) c.629C>A c.1151C>A (p.Ser384Tyr) c.1106C>A (p.Ser369Tyr) c.425-1377C>A c.884C>A (p.Ser295Tyr) c.*961C>A (n.*961C>A) | |
X | g.48904847_48904858dup | CA2693659196 | SLC35A2 | c.1056_1067dup (p.Ser356_Gly357insAlaSerAlaSer) c.394_405dup (p.Leu135_Arg136insCysLeuArgLeu) c.466_477dup (p.Leu159_Arg160insCysLeuArgLeu) c.618_629dup c.1140_1151dup (p.Ser384_Gly385insAlaSerAlaSer) c.1095_1106dup (p.Ser369_Gly370insAlaSerAlaSer) c.425-1388_425-1377dup c.873_884dup (p.Ser295_Gly296insAlaSerAlaSer) c.*950_*961dup (n.*950_*961dup) | gnomAD v4 |
X | g.48904843A>C | CA412894222 | SLC35A2 | c.1066T>G (p.Ser356Ala) c.404T>G (p.Leu135Arg) c.476T>G (p.Leu159Arg) c.628T>G c.1150T>G (p.Ser384Ala) c.1105T>G (p.Ser369Ala) c.425-1378T>G c.883T>G (p.Ser295Ala) c.*960T>G (n.*960T>G) | |
X | g.48904843A>G | CA412894224 | SLC35A2 | c.1066T>C (p.Ser356Pro) c.404T>C (p.Leu135Pro) c.476T>C (p.Leu159Pro) c.628T>C c.1150T>C (p.Ser384Pro) c.1105T>C (p.Ser369Pro) c.425-1378T>C c.883T>C (p.Ser295Pro) c.*960T>C (n.*960T>C) | |
X | g.48904843A>T | CA412894226 | SLC35A2 | c.1066T>A (p.Ser356Thr) c.404T>A (p.Leu135His) c.476T>A (p.Leu159His) c.628T>A c.1150T>A (p.Ser384Thr) c.1105T>A (p.Ser369Thr) c.425-1378T>A c.883T>A (p.Ser295Thr) c.*960T>A (n.*960T>A) | |
X | g.48904844_48904845insAGGCAG | CA658799741 | SLC35A2 | c.1066_1067insGCCTCT (p.Ala355_Ser356insCysLeu) c.404_405insGCCTCT (p.Leu135_Arg136insProLeu) c.476_477insGCCTCT (p.Leu159_Arg160insProLeu) c.628_629insGCCTCT c.1150_1151insGCCTCT (p.Ala383_Ser384insCysLeu) c.1105_1106insGCCTCT (p.Ala368_Ser369insCysLeu) c.425-1378_425-1377insGCCTCT c.883_884insGCCTCT (p.Ala294_Ser295insCysLeu) c.*960_*961insGCCTCT (n.*960_*961insGCCTCT) | dbSNP |
X | g.48904844G>A | CA412894228 | SLC35A2 | c.1065C>T (p.Ala355=) c.403C>T (p.Leu135Phe) c.475C>T (p.Leu159Phe) c.627C>T c.1149C>T (p.Ala383=) c.1104C>T (p.Ala368=) c.425-1379C>T c.882C>T (p.Ala294=) c.*959C>T (n.*959C>T) | |
X | g.48904844G>C | CA412894233 | SLC35A2 | c.1065C>G (p.Ala355=) c.403C>G (p.Leu135Val) c.475C>G (p.Leu159Val) c.627C>G c.1149C>G (p.Ala383=) c.1104C>G (p.Ala368=) c.425-1379C>G c.882C>G (p.Ala294=) c.*959C>G (n.*959C>G) | |
X | g.48904844G>T | CA412894231 | SLC35A2 | c.1065C>A (p.Ala355=) c.403C>A (p.Leu135Ile) c.475C>A (p.Leu159Ile) c.627C>A c.1149C>A (p.Ala383=) c.1104C>A (p.Ala368=) c.425-1379C>A c.882C>A (p.Ala294=) c.*959C>A (n.*959C>A) | |
X | g.48904845G>A | CA412894234 | SLC35A2 | c.1064C>T (p.Ala355Val) c.402C>T (p.Arg134=) c.474C>T (p.Arg158=) c.626C>T c.1148C>T (p.Ala383Val) c.1103C>T (p.Ala368Val) c.425-1380C>T c.881C>T (p.Ala294Val) c.*958C>T (n.*958C>T) | |
X | g.48904845G>C | CA412894236 | SLC35A2 | c.1064C>G (p.Ala355Gly) c.402C>G (p.Arg134=) c.474C>G (p.Arg158=) c.626C>G c.1148C>G (p.Ala383Gly) c.1103C>G (p.Ala368Gly) c.425-1380C>G c.881C>G (p.Ala294Gly) c.*958C>G (n.*958C>G) | |
X | g.48904845G>T | CA412894237 | SLC35A2 | c.1064C>A (p.Ala355Asp) c.402C>A (p.Arg134=) c.474C>A (p.Arg158=) c.626C>A c.1148C>A (p.Ala383Asp) c.1103C>A (p.Ala368Asp) c.425-1380C>A c.881C>A (p.Ala294Asp) c.*958C>A (n.*958C>A) | |
X | g.48904846C>A | CA412894238 | SLC35A2 | c.1063G>T (p.Ala355Ser) c.401G>T (p.Arg134Leu) c.473G>T (p.Arg158Leu) c.625G>T c.1147G>T (p.Ala383Ser) c.1102G>T (p.Ala368Ser) c.425-1381G>T c.880G>T (p.Ala294Ser) c.*957G>T (n.*957G>T) | |
X | g.48904846C= | CA2428428800 | SLC35A2 | c.1063G= (p.Ala355=) c.401G= (p.Arg134=) c.473G= (p.Arg158=) c.625G= c.1147G= (p.Ala383=) c.1102G= (p.Ala368=) c.425-1381G= c.880G= (p.Ala294=) c.*957G= (n.*957G=) | |
X | g.48904846C>G | CA412894240 | SLC35A2 | c.1063G>C (p.Ala355Pro) c.401G>C (p.Arg134Pro) c.473G>C (p.Arg158Pro) c.625G>C c.1147G>C (p.Ala383Pro) c.1102G>C (p.Ala368Pro) c.425-1381G>C c.880G>C (p.Ala294Pro) c.*957G>C (n.*957G>C) | |
X | g.48904846C>T | CA10406065 | SLC35A2 | c.1063G>A (p.Ala355Thr) c.401G>A (p.Arg134His) c.473G>A (p.Arg158His) c.625G>A c.1147G>A (p.Ala383Thr) c.1102G>A (p.Ala368Thr) c.425-1381G>A c.880G>A (p.Ala294Thr) c.*957G>A (n.*957G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.48904847G>A | CA10406067 | SLC35A2 | c.1062C>T (p.Ser354=) c.400C>T (p.Arg134Cys) c.472C>T (p.Arg158Cys) c.624C>T c.1146C>T (p.Ser382=) c.1101C>T (p.Ser367=) c.425-1382C>T c.879C>T (p.Ser293=) c.*956C>T (n.*956C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904847G>C | CA412894244 | SLC35A2 | c.1062C>G (p.Ser354=) c.400C>G (p.Arg134Gly) c.472C>G (p.Arg158Gly) c.624C>G c.1146C>G (p.Ser382=) c.1101C>G (p.Ser367=) c.425-1382C>G c.879C>G (p.Ser293=) c.*956C>G (n.*956C>G) | |
X | g.48904847G= | CA2428428801 | SLC35A2 | c.1062C= (p.Ser354=) c.400C= (p.Arg134=) c.472C= (p.Arg158=) c.624C= c.1146C= (p.Ser382=) c.1101C= (p.Ser367=) c.425-1382C= c.879C= (p.Ser293=) c.*956C= (n.*956C=) | |
X | g.48904847G>T | CA412894246 | SLC35A2 | c.1062C>A (p.Ser354=) c.400C>A (p.Arg134Ser) c.472C>A (p.Arg158Ser) c.624C>A c.1146C>A (p.Ser382=) c.1101C>A (p.Ser367=) c.425-1382C>A c.879C>A (p.Ser293=) c.*956C>A (n.*956C>A) | |
X | g.48904847_48904853delinsGGAGGCA | CA2428428802 | SLC35A2 | c.1056_1062delinsTGCCTCC (p.Ser352=) c.394_400delinsTGCCTCC (p.Cys132=) c.466_472delinsTGCCTCC (p.Cys156=) c.618_624delinsTGCCTCC c.1140_1146delinsTGCCTCC (p.Ser380=) c.1095_1101delinsTGCCTCC (p.Ser365=) c.425-1388_425-1382delinsTGCCTCC c.873_879delinsTGCCTCC (p.Ser291=) c.*950_*956delinsTGCCTCC (n.*950_*956delinsTGCCTCC) | |
X | g.48904848G>A | CA412894248 | SLC35A2 | c.1061C>T (p.Ser354Phe) c.399C>T (p.Leu133=) c.471C>T (p.Leu157=) c.623C>T c.1145C>T (p.Ser382Phe) c.1100C>T (p.Ser367Phe) c.425-1383C>T c.878C>T (p.Ser293Phe) c.*955C>T (n.*955C>T) | |
X | g.48904848G>C | CA412894251 | SLC35A2 | c.1061C>G (p.Ser354Cys) c.399C>G (p.Leu133=) c.471C>G (p.Leu157=) c.623C>G c.1145C>G (p.Ser382Cys) c.1100C>G (p.Ser367Cys) c.425-1383C>G c.878C>G (p.Ser293Cys) c.*955C>G (n.*955C>G) | |
X | g.48904848G>T | CA412894253 | SLC35A2 | c.1061C>A (p.Ser354Tyr) c.399C>A (p.Leu133=) c.471C>A (p.Leu157=) c.623C>A c.1145C>A (p.Ser382Tyr) c.1100C>A (p.Ser367Tyr) c.425-1383C>A c.878C>A (p.Ser293Tyr) c.*955C>A (n.*955C>A) | |
X | g.48904859_48904864dup | CA641902150 | SLC35A2 | c.1056_1061dup (p.Ser354_Ala355insAlaSer) c.394_399dup (p.Leu133_Arg134insCysLeu) c.466_471dup (p.Leu157_Arg158insCysLeu) c.618_623dup c.1140_1145dup (p.Ser382_Ala383insAlaSer) c.1095_1100dup (p.Ser367_Ala368insAlaSer) c.425-1388_425-1383dup c.873_878dup (p.Ser293_Ala294insAlaSer) c.*950_*955dup (n.*950_*955dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48904859_48904864del | CA10406066 | SLC35A2 | c.1056_1061del (p.Ala353_Ser354del) c.394_399del (p.Cys132_Leu133del) c.466_471del (p.Cys156_Leu157del) c.618_623del c.1140_1145del (p.Ala381_Ser382del) c.1095_1100del (p.Ala366_Ser367del) c.425-1388_425-1383del c.873_878del (p.Ala292_Ser293del) c.*950_*955del (n.*950_*955del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.48904849A>C | CA412894255 | SLC35A2 | c.1060T>G (p.Ser354Ala) c.398T>G (p.Leu133Arg) c.470T>G (p.Leu157Arg) c.622T>G c.1144T>G (p.Ser382Ala) c.1099T>G (p.Ser367Ala) c.425-1384T>G c.877T>G (p.Ser293Ala) c.*954T>G (n.*954T>G) | |
X | g.48904849A>G | CA412894260 | SLC35A2 | c.1060T>C (p.Ser354Pro) c.398T>C (p.Leu133Pro) c.470T>C (p.Leu157Pro) c.622T>C c.1144T>C (p.Ser382Pro) c.1099T>C (p.Ser367Pro) c.425-1384T>C c.877T>C (p.Ser293Pro) c.*954T>C (n.*954T>C) | |
X | g.48904849A>T | CA412894258 | SLC35A2 | c.1060T>A (p.Ser354Thr) c.398T>A (p.Leu133His) c.470T>A (p.Leu157His) c.622T>A c.1144T>A (p.Ser382Thr) c.1099T>A (p.Ser367Thr) c.425-1384T>A c.877T>A (p.Ser293Thr) c.*954T>A (n.*954T>A) | |
X | g.48904850G>A | CA412894262 | SLC35A2 | c.1059C>T (p.Ala353=) c.397C>T (p.Leu133Phe) c.469C>T (p.Leu157Phe) c.621C>T c.1143C>T (p.Ala381=) c.1098C>T (p.Ala366=) c.425-1385C>T c.876C>T (p.Ala292=) c.*953C>T (n.*953C>T) | |
X | g.48904850G>C | CA412894264 | SLC35A2 | c.1059C>G (p.Ala353=) c.397C>G (p.Leu133Val) c.469C>G (p.Leu157Val) c.621C>G c.1143C>G (p.Ala381=) c.1098C>G (p.Ala366=) c.425-1385C>G c.876C>G (p.Ala292=) c.*953C>G (n.*953C>G) | |
X | g.48904850G>T | CA412894266 | SLC35A2 | c.1059C>A (p.Ala353=) c.397C>A (p.Leu133Ile) c.469C>A (p.Leu157Ile) c.621C>A c.1143C>A (p.Ala381=) c.1098C>A (p.Ala366=) c.425-1385C>A c.876C>A (p.Ala292=) c.*953C>A (n.*953C>A) | |
X | g.48904851G>A | CA412894268 | SLC35A2 | c.1058C>T (p.Ala353Val) c.396C>T (p.Cys132=) c.468C>T (p.Cys156=) c.620C>T c.1142C>T (p.Ala381Val) c.1097C>T (p.Ala366Val) c.425-1386C>T c.875C>T (p.Ala292Val) c.*952C>T (n.*952C>T) | |
X | g.48904851G>C | CA412894269 | SLC35A2 | c.1058C>G (p.Ala353Gly) c.396C>G (p.Cys132Trp) c.468C>G (p.Cys156Trp) c.620C>G c.1142C>G (p.Ala381Gly) c.1097C>G (p.Ala366Gly) c.425-1386C>G c.875C>G (p.Ala292Gly) c.*952C>G (n.*952C>G) | |
X | g.48904851G>T | CA412894272 | SLC35A2 | c.1058C>A (p.Ala353Asp) c.396C>A (p.Cys132Ter) c.468C>A (p.Cys156Ter) c.620C>A c.1142C>A (p.Ala381Asp) c.1097C>A (p.Ala366Asp) c.425-1386C>A c.875C>A (p.Ala292Asp) c.*952C>A (n.*952C>A) | |
X | g.48904852C>A | CA412894274 | SLC35A2 | c.1057G>T (p.Ala353Ser) c.395G>T (p.Cys132Phe) c.467G>T (p.Cys156Phe) c.619G>T c.1141G>T (p.Ala381Ser) c.1096G>T (p.Ala366Ser) c.425-1387G>T c.874G>T (p.Ala292Ser) c.*951G>T (n.*951G>T) | |
X | g.48904852C>G | CA412894276 | SLC35A2 | c.1057G>C (p.Ala353Pro) c.395G>C (p.Cys132Ser) c.467G>C (p.Cys156Ser) c.619G>C c.1141G>C (p.Ala381Pro) c.1096G>C (p.Ala366Pro) c.425-1387G>C c.874G>C (p.Ala292Pro) c.*951G>C (n.*951G>C) | |
X | g.48904852C>T | CA412894278 | SLC35A2 | c.1057G>A (p.Ala353Thr) c.395G>A (p.Cys132Tyr) c.467G>A (p.Cys156Tyr) c.619G>A c.1141G>A (p.Ala381Thr) c.1096G>A (p.Ala366Thr) c.425-1387G>A c.874G>A (p.Ala292Thr) c.*951G>A (n.*951G>A) | |
X | g.48904853A= | CA2428428803 | SLC35A2 | c.1056T= (p.Ser352=) c.394T= (p.Cys132=) c.466T= (p.Cys156=) c.618T= c.1140T= (p.Ser380=) c.1095T= (p.Ser365=) c.425-1388T= c.873T= (p.Ser291=) c.*950T= (n.*950T=) | |
X | g.48904853A>C | CA412894280 | SLC35A2 | c.1056T>G (p.Ser352=) c.394T>G (p.Cys132Gly) c.466T>G (p.Cys156Gly) c.618T>G c.1140T>G (p.Ser380=) c.1095T>G (p.Ser365=) c.425-1388T>G c.873T>G (p.Ser291=) c.*950T>G (n.*950T>G) | |
X | g.48904853A>G | CA10406068 | SLC35A2 | c.1056T>C (p.Ser352=) c.394T>C (p.Cys132Arg) c.466T>C (p.Cys156Arg) c.618T>C c.1140T>C (p.Ser380=) c.1095T>C (p.Ser365=) c.425-1388T>C c.873T>C (p.Ser291=) c.*950T>C (n.*950T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904853A>T | CA412894283 | SLC35A2 | c.1056T>A (p.Ser352=) c.394T>A (p.Cys132Ser) c.466T>A (p.Cys156Ser) c.618T>A c.1140T>A (p.Ser380=) c.1095T>A (p.Ser365=) c.425-1388T>A c.873T>A (p.Ser291=) c.*950T>A (n.*950T>A) | |
X | g.48904854G>A | CA412894289 | SLC35A2 | c.1055C>T (p.Ser352Phe) c.393C>T (p.Leu131=) c.465C>T (p.Leu155=) c.617C>T c.1139C>T (p.Ser380Phe) c.1094C>T (p.Ser365Phe) c.425-1389C>T c.872C>T (p.Ser291Phe) c.*949C>T (n.*949C>T) | |
X | g.48904854G>C | CA412894288 | SLC35A2 | c.1055C>G (p.Ser352Cys) c.393C>G (p.Leu131=) c.465C>G (p.Leu155=) c.617C>G c.1139C>G (p.Ser380Cys) c.1094C>G (p.Ser365Cys) c.425-1389C>G c.872C>G (p.Ser291Cys) c.*949C>G (n.*949C>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904854G= | CA2428428804 | SLC35A2 | c.1055C= (p.Ser352=) c.393C= (p.Leu131=) c.465C= (p.Leu155=) c.617C= c.1139C= (p.Ser380=) c.1094C= (p.Ser365=) c.425-1389C= c.872C= (p.Ser291=) c.*949C= (n.*949C=) | |
X | g.48904854G>T | CA412894285 | SLC35A2 | c.1055C>A (p.Ser352Tyr) c.393C>A (p.Leu131=) c.465C>A (p.Leu155=) c.617C>A c.1139C>A (p.Ser380Tyr) c.1094C>A (p.Ser365Tyr) c.425-1389C>A c.872C>A (p.Ser291Tyr) c.*949C>A (n.*949C>A) | |
X | g.48904855A>C | CA412894292 | SLC35A2 | c.1054T>G (p.Ser352Ala) c.392T>G (p.Leu131Arg) c.464T>G (p.Leu155Arg) c.616T>G c.1138T>G (p.Ser380Ala) c.1093T>G (p.Ser365Ala) c.425-1390T>G c.871T>G (p.Ser291Ala) c.*948T>G (n.*948T>G) | |
X | g.48904855A>G | CA412894294 | SLC35A2 | c.1054T>C (p.Ser352Pro) c.392T>C (p.Leu131Pro) c.464T>C (p.Leu155Pro) c.616T>C c.1138T>C (p.Ser380Pro) c.1093T>C (p.Ser365Pro) c.425-1390T>C c.871T>C (p.Ser291Pro) c.*948T>C (n.*948T>C) | |
X | g.48904855A>T | CA412894296 | SLC35A2 | c.1054T>A (p.Ser352Thr) c.392T>A (p.Leu131His) c.464T>A (p.Leu155His) c.616T>A c.1138T>A (p.Ser380Thr) c.1093T>A (p.Ser365Thr) c.425-1390T>A c.871T>A (p.Ser291Thr) c.*948T>A (n.*948T>A) | |
X | g.48904856G>A | CA412894299 | SLC35A2 | c.1053C>T (p.Ala351=) c.391C>T (p.Leu131Phe) c.463C>T (p.Leu155Phe) c.615C>T c.1137C>T (p.Ala379=) c.1092C>T (p.Ala364=) c.425-1391C>T c.870C>T (p.Ala290=) c.*947C>T (n.*947C>T) | |
X | g.48904856G>C | CA412894300 | SLC35A2 | c.1053C>G (p.Ala351=) c.391C>G (p.Leu131Val) c.463C>G (p.Leu155Val) c.615C>G c.1137C>G (p.Ala379=) c.1092C>G (p.Ala364=) c.425-1391C>G c.870C>G (p.Ala290=) c.*947C>G (n.*947C>G) | |
X | g.48904856G>T | CA412894302 | SLC35A2 | c.1053C>A (p.Ala351=) c.391C>A (p.Leu131Ile) c.463C>A (p.Leu155Ile) c.615C>A c.1137C>A (p.Ala379=) c.1092C>A (p.Ala364=) c.425-1391C>A c.870C>A (p.Ala290=) c.*947C>A (n.*947C>A) | |
X | g.48904857G>A | CA412894305 | SLC35A2 | c.1052C>T (p.Ala351Val) c.390C>T (p.Cys130=) c.462C>T (p.Cys154=) c.614C>T c.1136C>T (p.Ala379Val) c.1091C>T (p.Ala364Val) c.425-1392C>T c.869C>T (p.Ala290Val) c.*946C>T (n.*946C>T) | |
X | g.48904857G>C | CA412894306 | SLC35A2 | c.1052C>G (p.Ala351Gly) c.390C>G (p.Cys130Trp) c.462C>G (p.Cys154Trp) c.614C>G c.1136C>G (p.Ala379Gly) c.1091C>G (p.Ala364Gly) c.425-1392C>G c.869C>G (p.Ala290Gly) c.*946C>G (n.*946C>G) | |
X | g.48904857G>T | CA412894308 | SLC35A2 | c.1052C>A (p.Ala351Asp) c.390C>A (p.Cys130Ter) c.462C>A (p.Cys154Ter) c.614C>A c.1136C>A (p.Ala379Asp) c.1091C>A (p.Ala364Asp) c.425-1392C>A c.869C>A (p.Ala290Asp) c.*946C>A (n.*946C>A) | |
X | g.48904858C>A | CA412894311 | SLC35A2 | c.1051G>T (p.Ala351Ser) c.389G>T (p.Cys130Phe) c.461G>T (p.Cys154Phe) c.613G>T c.1135G>T (p.Ala379Ser) c.1090G>T (p.Ala364Ser) c.425-1393G>T c.868G>T (p.Ala290Ser) c.*945G>T (n.*945G>T) | |
X | g.48904858C>G | CA412894314 | SLC35A2 | c.1051G>C (p.Ala351Pro) c.389G>C (p.Cys130Ser) c.461G>C (p.Cys154Ser) c.613G>C c.1135G>C (p.Ala379Pro) c.1090G>C (p.Ala364Pro) c.425-1393G>C c.868G>C (p.Ala290Pro) c.*945G>C (n.*945G>C) | |
X | g.48904858C>T | CA412894316 | SLC35A2 | c.1051G>A (p.Ala351Thr) c.389G>A (p.Cys130Tyr) c.461G>A (p.Cys154Tyr) c.613G>A c.1135G>A (p.Ala379Thr) c.1090G>A (p.Ala364Thr) c.425-1393G>A c.868G>A (p.Ala290Thr) c.*945G>A (n.*945G>A) | |
X | g.48904859A= | CA2428428805 | SLC35A2 | c.1050T= (p.Ser350=) c.388T= (p.Cys130=) c.460T= (p.Cys154=) c.612T= c.1134T= (p.Ser378=) c.1089T= (p.Ser363=) c.425-1394T= c.867T= (p.Ser289=) c.*944T= (n.*944T=) | |
X | g.48904859A>C | CA412894321 | SLC35A2 | c.1050T>G (p.Ser350=) c.388T>G (p.Cys130Gly) c.460T>G (p.Cys154Gly) c.612T>G c.1134T>G (p.Ser378=) c.1089T>G (p.Ser363=) c.425-1394T>G c.867T>G (p.Ser289=) c.*944T>G (n.*944T>G) | |
X | g.48904859A>G | CA10406069 | SLC35A2 | c.1050T>C (p.Ser350=) c.388T>C (p.Cys130Arg) c.460T>C (p.Cys154Arg) c.612T>C c.1134T>C (p.Ser378=) c.1089T>C (p.Ser363=) c.425-1394T>C c.867T>C (p.Ser289=) c.*944T>C (n.*944T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904859A>T | CA412894319 | SLC35A2 | c.1050T>A (p.Ser350=) c.388T>A (p.Cys130Ser) c.460T>A (p.Cys154Ser) c.612T>A c.1134T>A (p.Ser378=) c.1089T>A (p.Ser363=) c.425-1394T>A c.867T>A (p.Ser289=) c.*944T>A (n.*944T>A) | |
X | g.48904860G>A | CA412894323 | SLC35A2 | c.1049C>T (p.Ser350Phe) c.387C>T (p.Leu129=) c.459C>T (p.Leu153=) c.611C>T c.1133C>T (p.Ser378Phe) c.1088C>T (p.Ser363Phe) c.425-1395C>T c.866C>T (p.Ser289Phe) c.*943C>T (n.*943C>T) | |
X | g.48904860G>C | CA412894327 | SLC35A2 | c.1049C>G (p.Ser350Cys) c.387C>G (p.Leu129=) c.459C>G (p.Leu153=) c.611C>G c.1133C>G (p.Ser378Cys) c.1088C>G (p.Ser363Cys) c.425-1395C>G c.866C>G (p.Ser289Cys) c.*943C>G (n.*943C>G) | |
X | g.48904860G>T | CA412894325 | SLC35A2 | c.1049C>A (p.Ser350Tyr) c.387C>A (p.Leu129=) c.459C>A (p.Leu153=) c.611C>A c.1133C>A (p.Ser378Tyr) c.1088C>A (p.Ser363Tyr) c.425-1395C>A c.866C>A (p.Ser289Tyr) c.*943C>A (n.*943C>A) | |
X | g.48904861A>C | CA412894329 | SLC35A2 | c.1048T>G (p.Ser350Ala) c.386T>G (p.Leu129Arg) c.458T>G (p.Leu153Arg) c.610T>G c.1132T>G (p.Ser378Ala) c.1087T>G (p.Ser363Ala) c.425-1396T>G c.865T>G (p.Ser289Ala) c.*942T>G (n.*942T>G) | |
X | g.48904861A>G | CA412894333 | SLC35A2 | c.1048T>C (p.Ser350Pro) c.386T>C (p.Leu129Pro) c.458T>C (p.Leu153Pro) c.610T>C c.1132T>C (p.Ser378Pro) c.1087T>C (p.Ser363Pro) c.425-1396T>C c.865T>C (p.Ser289Pro) c.*942T>C (n.*942T>C) | |
X | g.48904861A>T | CA412894331 | SLC35A2 | c.1048T>A (p.Ser350Thr) c.386T>A (p.Leu129His) c.458T>A (p.Leu153His) c.610T>A c.1132T>A (p.Ser378Thr) c.1087T>A (p.Ser363Thr) c.425-1396T>A c.865T>A (p.Ser289Thr) c.*942T>A (n.*942T>A) |