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.48904720C>A | CA412893869 | SLC35A2 | c.1163+26G>T (n.1163+26G>T) c.527G>T (p.Gly176Val) c.*7G>T (n.*7G>T) c.573+26G>T (n.573+26G>T) c.751G>T c.599G>T (p.Gly200Val) c.425-1255G>T c.*1083G>T (n.*1083G>T) | |
X | g.48904720C>G | CA412893870 | SLC35A2 | c.1163+26G>C (n.1163+26G>C) c.527G>C (p.Gly176Ala) c.*7G>C (n.*7G>C) c.573+26G>C (n.573+26G>C) c.751G>C c.599G>C (p.Gly200Ala) c.425-1255G>C c.*1083G>C (n.*1083G>C) | |
X | g.48904720C>T | CA412893871 | SLC35A2 | c.1163+26G>A (n.1163+26G>A) c.527G>A (p.Gly176Asp) c.*7G>A (n.*7G>A) c.573+26G>A (n.573+26G>A) c.751G>A c.599G>A (p.Gly200Asp) c.425-1255G>A c.*1083G>A (n.*1083G>A) | |
X | g.48904721C>A | CA412893872 | SLC35A2 | c.1163+25G>T (n.1163+25G>T) c.526G>T (p.Gly176Cys) c.*6G>T (n.*6G>T) c.573+25G>T (n.573+25G>T) c.750G>T c.598G>T (p.Gly200Cys) c.425-1256G>T c.*1082G>T (n.*1082G>T) | |
X | g.48904721C>G | CA412893873 | SLC35A2 | c.1163+25G>C (n.1163+25G>C) c.526G>C (p.Gly176Arg) c.*6G>C (n.*6G>C) c.573+25G>C (n.573+25G>C) c.750G>C c.598G>C (p.Gly200Arg) c.425-1256G>C c.*1082G>C (n.*1082G>C) | |
X | g.48904721C>T | CA412893874 | SLC35A2 | c.1163+25G>A (n.1163+25G>A) c.526G>A (p.Gly176Ser) c.*6G>A (n.*6G>A) c.573+25G>A (n.573+25G>A) c.750G>A c.598G>A (p.Gly200Ser) c.425-1256G>A c.*1082G>A (n.*1082G>A) | |
X | g.48904723G>A | CA412893877 | SLC35A2 | c.1163+23C>T (n.1163+23C>T) c.524C>T (p.Ala175Val) c.*4C>T (n.*4C>T) c.573+23C>T (n.573+23C>T) c.748C>T c.596C>T (p.Ala199Val) c.425-1258C>T c.*1080C>T (n.*1080C>T) | |
X | g.48904723G>C | CA412893875 | SLC35A2 | c.1163+23C>G (n.1163+23C>G) c.524C>G (p.Ala175Gly) c.*4C>G (n.*4C>G) c.573+23C>G (n.573+23C>G) c.748C>G c.596C>G (p.Ala199Gly) c.425-1258C>G c.*1080C>G (n.*1080C>G) | |
X | g.48904723G>T | CA412893876 | SLC35A2 | c.1163+23C>A (n.1163+23C>A) c.524C>A (p.Ala175Asp) c.*4C>A (n.*4C>A) c.573+23C>A (n.573+23C>A) c.748C>A c.596C>A (p.Ala199Asp) c.425-1258C>A c.*1080C>A (n.*1080C>A) | |
X | g.48904724C>A | CA412893878 | SLC35A2 | c.1163+22G>T (n.1163+22G>T) c.523G>T (p.Ala175Ser) c.*3G>T (n.*3G>T) c.573+22G>T (n.573+22G>T) c.747G>T c.595G>T (p.Ala199Ser) c.425-1259G>T c.*1079G>T (n.*1079G>T) | |
X | g.48904724C>G | CA412893879 | SLC35A2 | c.1163+22G>C (n.1163+22G>C) c.523G>C (p.Ala175Pro) c.*3G>C (n.*3G>C) c.573+22G>C (n.573+22G>C) c.747G>C c.595G>C (p.Ala199Pro) c.425-1259G>C c.*1079G>C (n.*1079G>C) | |
X | g.48904724C>T | CA412893880 | SLC35A2 | c.1163+22G>A (n.1163+22G>A) c.523G>A (p.Ala175Thr) c.*3G>A (n.*3G>A) c.573+22G>A (n.573+22G>A) c.747G>A c.595G>A (p.Ala199Thr) c.425-1259G>A c.*1079G>A (n.*1079G>A) | |
X | g.48904725C>A | CA412893881 | SLC35A2 | c.1163+21G>T (n.1163+21G>T) c.522G>T (p.Arg174Ser) c.*2G>T (n.*2G>T) c.573+21G>T (n.573+21G>T) c.746G>T c.594G>T (p.Arg198Ser) c.425-1260G>T c.*1078G>T (n.*1078G>T) | |
X | g.48904725C>G | CA412893882 | SLC35A2 | c.1163+21G>C (n.1163+21G>C) c.522G>C (p.Arg174Ser) c.*2G>C (n.*2G>C) c.573+21G>C (n.573+21G>C) c.746G>C c.594G>C (p.Arg198Ser) c.425-1260G>C c.*1078G>C (n.*1078G>C) | |
X | g.48904726C>A | CA412893883 | SLC35A2 | c.1163+20G>T (n.1163+20G>T) c.521G>T (p.Arg174Met) c.*1G>T (n.*1G>T) c.573+20G>T (n.573+20G>T) c.745G>T c.593G>T (p.Arg198Met) c.425-1261G>T c.*1077G>T (n.*1077G>T) | |
X | g.48904726C= | CA2428428757 | SLC35A2 | c.1163+20G= (n.1163+20G=) c.521G= (p.Arg174=) c.*1G= (n.*1G=) c.573+20G= (n.573+20G=) c.745G= c.593G= (p.Arg198=) c.425-1261G= c.*1077G= (n.*1077G=) | |
X | g.48904726C>G | CA412893884 | SLC35A2 | c.1163+20G>C (n.1163+20G>C) c.521G>C (p.Arg174Thr) c.*1G>C (n.*1G>C) c.573+20G>C (n.573+20G>C) c.745G>C c.593G>C (p.Arg198Thr) c.425-1261G>C c.*1077G>C (n.*1077G>C) | |
X | g.48904726C>T | CA10406044 | SLC35A2 | c.1163+20G>A (n.1163+20G>A) c.521G>A (p.Arg174Lys) c.*1G>A (n.*1G>A) c.573+20G>A (n.573+20G>A) c.745G>A c.593G>A (p.Arg198Lys) c.425-1261G>A c.*1077G>A (n.*1077G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48904727T>A | CA412893885 | SLC35A2 | c.1163+19A>T (n.1163+19A>T) c.520A>T (p.Arg174Trp) c.1182A>T (p.Ter394Cys) c.573+19A>T (n.573+19A>T) c.744A>T c.592A>T (p.Arg198Trp) c.1266A>T (p.Ter422Cys) c.1221A>T (p.Ter407Cys) c.425-1262A>T c.999A>T (p.Ter333Cys) c.*1076A>T (n.*1076A>T) | |
X | g.48904727T>C | CA412893886 | SLC35A2 | c.1163+19A>G (n.1163+19A>G) c.520A>G (p.Arg174Gly) c.1182A>G (p.Ter394Trp) c.573+19A>G (n.573+19A>G) c.744A>G c.592A>G (p.Arg198Gly) c.1266A>G (p.Ter422Trp) c.1221A>G (p.Ter407Trp) c.425-1262A>G c.999A>G (p.Ter333Trp) c.*1076A>G (n.*1076A>G) | |
X | g.48904727T>G | CA412893887 | SLC35A2 | c.1163+19A>C (n.1163+19A>C) c.520A>C (p.Arg174=) c.1182A>C (p.Ter394Cys) c.573+19A>C (n.573+19A>C) c.744A>C c.592A>C (p.Arg198=) c.1266A>C (p.Ter422Cys) c.1221A>C (p.Ter407Cys) c.425-1262A>C c.999A>C (p.Ter333Cys) c.*1076A>C (n.*1076A>C) | |
X | g.48904728C>A | CA412893888 | SLC35A2 | c.1163+18G>T (n.1163+18G>T) c.519G>T (p.Val173=) c.1181G>T (p.Ter394Leu) c.573+18G>T (n.573+18G>T) c.743G>T c.591G>T (p.Val197=) c.1265G>T (p.Ter422Leu) c.1220G>T (p.Ter407Leu) c.425-1263G>T c.998G>T (p.Ter333Leu) c.*1075G>T (n.*1075G>T) | |
X | g.48904728C>G | CA412893889 | SLC35A2 | c.1163+18G>C (n.1163+18G>C) c.519G>C (p.Val173=) c.1181G>C (p.Ter394Ser) c.573+18G>C (n.573+18G>C) c.743G>C c.591G>C (p.Val197=) c.1265G>C (p.Ter422Ser) c.1220G>C (p.Ter407Ser) c.425-1263G>C c.998G>C (p.Ter333Ser) c.*1075G>C (n.*1075G>C) | |
X | g.48904729A>C | CA412893890 | SLC35A2 | c.1163+17T>G (n.1163+17T>G) c.518T>G (p.Val173Gly) c.1180T>G (p.Ter394Gly) c.573+17T>G (n.573+17T>G) c.742T>G c.590T>G (p.Val197Gly) c.1264T>G (p.Ter422Gly) c.1219T>G (p.Ter407Gly) c.425-1264T>G c.997T>G (p.Ter333Gly) c.*1074T>G (n.*1074T>G) | |
X | g.48904729A>G | CA412893891 | SLC35A2 | c.1163+17T>C (n.1163+17T>C) c.518T>C (p.Val173Ala) c.1180T>C (p.Ter394Arg) c.573+17T>C (n.573+17T>C) c.742T>C c.590T>C (p.Val197Ala) c.1264T>C (p.Ter422Arg) c.1219T>C (p.Ter407Arg) c.425-1264T>C c.997T>C (p.Ter333Arg) c.*1074T>C (n.*1074T>C) | |
X | g.48904729A>T | CA412893892 | SLC35A2 | c.1163+17T>A (n.1163+17T>A) c.518T>A (p.Val173Glu) c.1180T>A (p.Ter394Arg) c.573+17T>A (n.573+17T>A) c.742T>A c.590T>A (p.Val197Glu) c.1264T>A (p.Ter422Arg) c.1219T>A (p.Ter407Arg) c.425-1264T>A c.997T>A (p.Ter333Arg) c.*1074T>A (n.*1074T>A) | |
X | g.48904730C>A | CA10406045 | SLC35A2 | c.1163+16G>T (n.1163+16G>T) c.517G>T (p.Val173Leu) c.1179G>T (p.Lys393Asn) c.573+16G>T (n.573+16G>T) c.741G>T c.589G>T (p.Val197Leu) c.1263G>T (p.Lys421Asn) c.1218G>T (p.Lys406Asn) c.425-1265G>T c.996G>T (p.Lys332Asn) c.*1073G>T (n.*1073G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904730C= | CA2428428758 | SLC35A2 | c.1163+16G= (n.1163+16G=) c.517G= (p.Val173=) c.1179G= (p.Lys393=) c.573+16G= (n.573+16G=) c.741G= c.589G= (p.Val197=) c.1263G= (p.Lys421=) c.1218G= (p.Lys406=) c.425-1265G= c.996G= (p.Lys332=) c.*1073G= (n.*1073G=) | |
X | g.48904730C>G | CA412893893 | SLC35A2 | c.1163+16G>C (n.1163+16G>C) c.517G>C (p.Val173Leu) c.1179G>C (p.Lys393Asn) c.573+16G>C (n.573+16G>C) c.741G>C c.589G>C (p.Val197Leu) c.1263G>C (p.Lys421Asn) c.1218G>C (p.Lys406Asn) c.425-1265G>C c.996G>C (p.Lys332Asn) c.*1073G>C (n.*1073G>C) | |
X | g.48904730C>T | CA412893894 | SLC35A2 | c.1163+16G>A (n.1163+16G>A) c.517G>A (p.Val173Met) c.1179G>A (p.Lys393=) c.573+16G>A (n.573+16G>A) c.741G>A c.589G>A (p.Val197Met) c.1263G>A (p.Lys421=) c.1218G>A (p.Lys406=) c.425-1265G>A c.996G>A (p.Lys332=) c.*1073G>A (n.*1073G>A) | gnomAD v4 |
X | g.48904731T>A | CA412893897 | SLC35A2 | c.1163+15A>T (n.1163+15A>T) c.516A>T (p.Glu172Asp) c.1178A>T (p.Lys393Met) c.573+15A>T (n.573+15A>T) c.740A>T c.588A>T (p.Glu196Asp) c.1262A>T (p.Lys421Met) c.1217A>T (p.Lys406Met) c.425-1266A>T c.995A>T (p.Lys332Met) c.*1072A>T (n.*1072A>T) | |
X | g.48904731T>C | CA412893896 | SLC35A2 | c.1163+15A>G (n.1163+15A>G) c.516A>G (p.Glu172=) c.1178A>G (p.Lys393Arg) c.573+15A>G (n.573+15A>G) c.740A>G c.588A>G (p.Glu196=) c.1262A>G (p.Lys421Arg) c.1217A>G (p.Lys406Arg) c.425-1266A>G c.995A>G (p.Lys332Arg) c.*1072A>G (n.*1072A>G) | |
X | g.48904731T>G | CA412893895 | SLC35A2 | c.1163+15A>C (n.1163+15A>C) c.516A>C (p.Glu172Asp) c.1178A>C (p.Lys393Thr) c.573+15A>C (n.573+15A>C) c.740A>C c.588A>C (p.Glu196Asp) c.1262A>C (p.Lys421Thr) c.1217A>C (p.Lys406Thr) c.425-1266A>C c.995A>C (p.Lys332Thr) c.*1072A>C (n.*1072A>C) | |
X | g.48904732T>A | CA412893898 | SLC35A2 | c.1163+14A>T (n.1163+14A>T) c.515A>T (p.Glu172Val) c.1177A>T (p.Lys393Ter) c.573+14A>T (n.573+14A>T) c.739A>T c.587A>T (p.Glu196Val) c.1261A>T (p.Lys421Ter) c.1216A>T (p.Lys406Ter) c.425-1267A>T c.994A>T (p.Lys332Ter) c.*1071A>T (n.*1071A>T) | |
X | g.48904732T>C | CA412893900 | SLC35A2 | c.1163+14A>G (n.1163+14A>G) c.515A>G (p.Glu172Gly) c.1177A>G (p.Lys393Glu) c.573+14A>G (n.573+14A>G) c.739A>G c.587A>G (p.Glu196Gly) c.1261A>G (p.Lys421Glu) c.1216A>G (p.Lys406Glu) c.425-1267A>G c.994A>G (p.Lys332Glu) c.*1071A>G (n.*1071A>G) | |
X | g.48904732T>G | CA412893899 | SLC35A2 | c.1163+14A>C (n.1163+14A>C) c.515A>C (p.Glu172Ala) c.1177A>C (p.Lys393Gln) c.573+14A>C (n.573+14A>C) c.739A>C c.587A>C (p.Glu196Ala) c.1261A>C (p.Lys421Gln) c.1216A>C (p.Lys406Gln) c.425-1267A>C c.994A>C (p.Lys332Gln) c.*1071A>C (n.*1071A>C) | |
X | g.48904733C>A | CA412893901 | SLC35A2 | c.1163+13G>T (n.1163+13G>T) c.514G>T (p.Glu172Ter) c.1176G>T (p.Val392=) c.573+13G>T (n.573+13G>T) c.738G>T c.586G>T (p.Glu196Ter) c.1260G>T (p.Val420=) c.1215G>T (p.Val405=) c.425-1268G>T c.993G>T (p.Val331=) c.*1070G>T (n.*1070G>T) | |
X | g.48904733C>G | CA412893903 | SLC35A2 | c.1163+13G>C (n.1163+13G>C) c.514G>C (p.Glu172Gln) c.1176G>C (p.Val392=) c.573+13G>C (n.573+13G>C) c.738G>C c.586G>C (p.Glu196Gln) c.1260G>C (p.Val420=) c.1215G>C (p.Val405=) c.425-1268G>C c.993G>C (p.Val331=) c.*1070G>C (n.*1070G>C) | |
X | g.48904733C>T | CA412893902 | SLC35A2 | c.1163+13G>A (n.1163+13G>A) c.514G>A (p.Glu172Lys) c.1176G>A (p.Val392=) c.573+13G>A (n.573+13G>A) c.738G>A c.586G>A (p.Glu196Lys) c.1260G>A (p.Val420=) c.1215G>A (p.Val405=) c.425-1268G>A c.993G>A (p.Val331=) c.*1070G>A (n.*1070G>A) | |
X | g.48904734A>C | CA412893904 | SLC35A2 | c.1163+12T>G (n.1163+12T>G) c.513T>G (p.Gly171=) c.1175T>G (p.Val392Gly) c.573+12T>G (n.573+12T>G) c.737T>G c.585T>G (p.Gly195=) c.1259T>G (p.Val420Gly) c.1214T>G (p.Val405Gly) c.425-1269T>G c.992T>G (p.Val331Gly) c.*1069T>G (n.*1069T>G) | |
X | g.48904734A>G | CA412893905 | SLC35A2 | c.1163+12T>C (n.1163+12T>C) c.513T>C (p.Gly171=) c.1175T>C (p.Val392Ala) c.573+12T>C (n.573+12T>C) c.737T>C c.585T>C (p.Gly195=) c.1259T>C (p.Val420Ala) c.1214T>C (p.Val405Ala) c.425-1269T>C c.992T>C (p.Val331Ala) c.*1069T>C (n.*1069T>C) | gnomAD v4 |
X | g.48904734A>T | CA412893906 | SLC35A2 | c.1163+12T>A (n.1163+12T>A) c.513T>A (p.Gly171=) c.1175T>A (p.Val392Glu) c.573+12T>A (n.573+12T>A) c.737T>A c.585T>A (p.Gly195=) c.1259T>A (p.Val420Glu) c.1214T>A (p.Val405Glu) c.425-1269T>A c.992T>A (p.Val331Glu) c.*1069T>A (n.*1069T>A) | |
X | g.48904735C>A | CA412893907 | SLC35A2 | c.1163+11G>T (n.1163+11G>T) c.512G>T (p.Gly171Val) c.1174G>T (p.Val392Leu) c.573+11G>T (n.573+11G>T) c.736G>T c.584G>T (p.Gly195Val) c.1258G>T (p.Val420Leu) c.1213G>T (p.Val405Leu) c.425-1270G>T c.991G>T (p.Val331Leu) c.*1068G>T (n.*1068G>T) | |
X | g.48904735C= | CA2428428759 | SLC35A2 | c.1163+11G= (n.1163+11G=) c.512G= (p.Gly171=) c.1174G= (p.Val392=) c.573+11G= (n.573+11G=) c.736G= c.584G= (p.Gly195=) c.1258G= (p.Val420=) c.1213G= (p.Val405=) c.425-1270G= c.991G= (p.Val331=) c.*1068G= (n.*1068G=) | |
X | g.48904735C>G | CA412893908 | SLC35A2 | c.1163+11G>C (n.1163+11G>C) c.512G>C (p.Gly171Ala) c.1174G>C (p.Val392Leu) c.573+11G>C (n.573+11G>C) c.736G>C c.584G>C (p.Gly195Ala) c.1258G>C (p.Val420Leu) c.1213G>C (p.Val405Leu) c.425-1270G>C c.991G>C (p.Val331Leu) c.*1068G>C (n.*1068G>C) | |
X | g.48904735C>T | CA412893909 | SLC35A2 | c.1163+11G>A (n.1163+11G>A) c.512G>A (p.Gly171Asp) c.1174G>A (p.Val392Met) c.573+11G>A (n.573+11G>A) c.736G>A c.584G>A (p.Gly195Asp) c.1258G>A (p.Val420Met) c.1213G>A (p.Val405Met) c.425-1270G>A c.991G>A (p.Val331Met) c.*1068G>A (n.*1068G>A) | dbSNP COSMIC COSMIC COSMIC |
X | g.48904736C>A | CA412893910 | SLC35A2 | c.1163+10G>T (n.1163+10G>T) c.511G>T (p.Gly171Cys) c.1173G>T (p.Leu391=) c.573+10G>T (n.573+10G>T) c.735G>T c.583G>T (p.Gly195Cys) c.1257G>T (p.Leu419=) c.1212G>T (p.Leu404=) c.425-1271G>T c.990G>T (p.Leu330=) c.*1067G>T (n.*1067G>T) | |
X | g.48904736C>G | CA412893911 | SLC35A2 | c.1163+10G>C (n.1163+10G>C) c.511G>C (p.Gly171Arg) c.1173G>C (p.Leu391=) c.573+10G>C (n.573+10G>C) c.735G>C c.583G>C (p.Gly195Arg) c.1257G>C (p.Leu419=) c.1212G>C (p.Leu404=) c.425-1271G>C c.990G>C (p.Leu330=) c.*1067G>C (n.*1067G>C) | gnomAD v4 |
X | g.48904736C>T | CA412893912 | SLC35A2 | c.1163+10G>A (n.1163+10G>A) c.511G>A (p.Gly171Ser) c.1173G>A (p.Leu391=) c.573+10G>A (n.573+10G>A) c.735G>A c.583G>A (p.Gly195Ser) c.1257G>A (p.Leu419=) c.1212G>A (p.Leu404=) c.425-1271G>A c.990G>A (p.Leu330=) c.*1067G>A (n.*1067G>A) | |
X | g.48904737A>C | CA412893913 | SLC35A2 | c.1163+9T>G (n.1163+9T>G) c.510T>G (p.Ala170=) c.1172T>G (p.Leu391Arg) c.573+9T>G (n.573+9T>G) c.734T>G c.582T>G (p.Ala194=) c.1256T>G (p.Leu419Arg) c.1211T>G (p.Leu404Arg) c.425-1272T>G c.989T>G (p.Leu330Arg) c.*1066T>G (n.*1066T>G) | |
X | g.48904737A>G | CA412893914 | SLC35A2 | c.1163+9T>C (n.1163+9T>C) c.510T>C (p.Ala170=) c.1172T>C (p.Leu391Pro) c.573+9T>C (n.573+9T>C) c.734T>C c.582T>C (p.Ala194=) c.1256T>C (p.Leu419Pro) c.1211T>C (p.Leu404Pro) c.425-1272T>C c.989T>C (p.Leu330Pro) c.*1066T>C (n.*1066T>C) | |
X | g.48904737A>T | CA412893915 | SLC35A2 | c.1163+9T>A (n.1163+9T>A) c.510T>A (p.Ala170=) c.1172T>A (p.Leu391Gln) c.573+9T>A (n.573+9T>A) c.734T>A c.582T>A (p.Ala194=) c.1256T>A (p.Leu419Gln) c.1211T>A (p.Leu404Gln) c.425-1272T>A c.989T>A (p.Leu330Gln) c.*1066T>A (n.*1066T>A) | |
X | g.48904738G>A | CA412893916 | SLC35A2 | c.1163+8C>T (n.1163+8C>T) c.509C>T (p.Ala170Val) c.1171C>T (p.Leu391=) c.573+8C>T (n.573+8C>T) c.733C>T c.581C>T (p.Ala194Val) c.1255C>T (p.Leu419=) c.1210C>T (p.Leu404=) c.425-1273C>T c.988C>T (p.Leu330=) c.*1065C>T (n.*1065C>T) | |
X | g.48904738G>C | CA412893918 | SLC35A2 | c.1163+8C>G (n.1163+8C>G) c.509C>G (p.Ala170Gly) c.1171C>G (p.Leu391Val) c.573+8C>G (n.573+8C>G) c.733C>G c.581C>G (p.Ala194Gly) c.1255C>G (p.Leu419Val) c.1210C>G (p.Leu404Val) c.425-1273C>G c.988C>G (p.Leu330Val) c.*1065C>G (n.*1065C>G) | |
X | g.48904738G>T | CA412893917 | SLC35A2 | c.1163+8C>A (n.1163+8C>A) c.509C>A (p.Ala170Asp) c.1171C>A (p.Leu391Met) c.573+8C>A (n.573+8C>A) c.733C>A c.581C>A (p.Ala194Asp) c.1255C>A (p.Leu419Met) c.1210C>A (p.Leu404Met) c.425-1273C>A c.988C>A (p.Leu330Met) c.*1065C>A (n.*1065C>A) | gnomAD v4 |
X | g.48904739C>A | CA412893919 | SLC35A2 | c.1163+7G>T (n.1163+7G>T) c.508G>T (p.Ala170Ser) c.1170G>T (p.Val390=) c.573+7G>T (n.573+7G>T) c.732G>T c.580G>T (p.Ala194Ser) c.1254G>T (p.Val418=) c.1209G>T (p.Val403=) c.425-1274G>T c.987G>T (p.Val329=) c.*1064G>T (n.*1064G>T) | dbSNP |
X | g.48904739C= | CA2428428760 | SLC35A2 | c.1163+7G= (n.1163+7G=) c.508G= (p.Ala170=) c.1170G= (p.Val390=) c.573+7G= (n.573+7G=) c.732G= c.580G= (p.Ala194=) c.1254G= (p.Val418=) c.1209G= (p.Val403=) c.425-1274G= c.987G= (p.Val329=) c.*1064G= (n.*1064G=) | |
X | g.48904739C>G | CA412893920 | SLC35A2 | c.1163+7G>C (n.1163+7G>C) c.508G>C (p.Ala170Pro) c.1170G>C (p.Val390=) c.573+7G>C (n.573+7G>C) c.732G>C c.580G>C (p.Ala194Pro) c.1254G>C (p.Val418=) c.1209G>C (p.Val403=) c.425-1274G>C c.987G>C (p.Val329=) c.*1064G>C (n.*1064G>C) | |
X | g.48904739C>T | CA412893921 | SLC35A2 | c.1163+7G>A (n.1163+7G>A) c.508G>A (p.Ala170Thr) c.1170G>A (p.Val390=) c.573+7G>A (n.573+7G>A) c.732G>A c.580G>A (p.Ala194Thr) c.1254G>A (p.Val418=) c.1209G>A (p.Val403=) c.425-1274G>A c.987G>A (p.Val329=) c.*1064G>A (n.*1064G>A) | |
X | g.48904740A>C | CA412893922 | SLC35A2 | c.1163+6T>G (n.1163+6T>G) c.507T>G (p.Ser169Arg) c.1169T>G (p.Val390Gly) c.573+6T>G (n.573+6T>G) c.731T>G c.579T>G (p.Ser193Arg) c.1253T>G (p.Val418Gly) c.1208T>G (p.Val403Gly) c.425-1275T>G c.986T>G (p.Val329Gly) c.*1063T>G (n.*1063T>G) | |
X | g.48904740A>G | CA412893923 | SLC35A2 | c.1163+6T>C (n.1163+6T>C) c.507T>C (p.Ser169=) c.1169T>C (p.Val390Ala) c.573+6T>C (n.573+6T>C) c.731T>C c.579T>C (p.Ser193=) c.1253T>C (p.Val418Ala) c.1208T>C (p.Val403Ala) c.425-1275T>C c.986T>C (p.Val329Ala) c.*1063T>C (n.*1063T>C) | |
X | g.48904740A>T | CA412893924 | SLC35A2 | c.1163+6T>A (n.1163+6T>A) c.507T>A (p.Ser169Arg) c.1169T>A (p.Val390Glu) c.573+6T>A (n.573+6T>A) c.731T>A c.579T>A (p.Ser193Arg) c.1253T>A (p.Val418Glu) c.1208T>A (p.Val403Glu) c.425-1275T>A c.986T>A (p.Val329Glu) c.*1063T>A (n.*1063T>A) | |
X | g.48904741C>A | CA412893925 | SLC35A2 | c.1163+5G>T (n.1163+5G>T) c.506G>T (p.Ser169Ile) c.1168G>T (p.Val390Leu) c.573+5G>T (n.573+5G>T) c.730G>T c.578G>T (p.Ser193Ile) c.1252G>T (p.Val418Leu) c.1207G>T (p.Val403Leu) c.425-1276G>T c.985G>T (p.Val329Leu) c.*1062G>T (n.*1062G>T) | |
X | g.48904741C>G | CA412893926 | SLC35A2 | c.1163+5G>C (n.1163+5G>C) c.506G>C (p.Ser169Thr) c.1168G>C (p.Val390Leu) c.573+5G>C (n.573+5G>C) c.730G>C c.578G>C (p.Ser193Thr) c.1252G>C (p.Val418Leu) c.1207G>C (p.Val403Leu) c.425-1276G>C c.985G>C (p.Val329Leu) c.*1062G>C (n.*1062G>C) | |
X | g.48904741C>T | CA412893927 | SLC35A2 | c.1163+5G>A (n.1163+5G>A) c.506G>A (p.Ser169Asn) c.1168G>A (p.Val390Met) c.573+5G>A (n.573+5G>A) c.730G>A c.578G>A (p.Ser193Asn) c.1252G>A (p.Val418Met) c.1207G>A (p.Val403Met) c.425-1276G>A c.985G>A (p.Val329Met) c.*1062G>A (n.*1062G>A) | |
X | g.48904742T>A | CA412893930 | SLC35A2 | c.1163+4A>T (n.1163+4A>T) c.505A>T (p.Ser169Cys) c.1167A>T (p.Ser389=) c.573+4A>T (n.573+4A>T) c.729A>T c.577A>T (p.Ser193Cys) c.1251A>T (p.Ser417=) c.1206A>T (p.Ser402=) c.425-1277A>T c.984A>T (p.Ser328=) c.*1061A>T (n.*1061A>T) | |
X | g.48904742T>C | CA412893929 | SLC35A2 | c.1163+4A>G (n.1163+4A>G) c.505A>G (p.Ser169Gly) c.1167A>G (p.Ser389=) c.573+4A>G (n.573+4A>G) c.729A>G c.577A>G (p.Ser193Gly) c.1251A>G (p.Ser417=) c.1206A>G (p.Ser402=) c.425-1277A>G c.984A>G (p.Ser328=) c.*1061A>G (n.*1061A>G) | |
X | g.48904742T>G | CA412893928 | SLC35A2 | c.1163+4A>C (n.1163+4A>C) c.505A>C (p.Ser169Arg) c.1167A>C (p.Ser389=) c.573+4A>C (n.573+4A>C) c.729A>C c.577A>C (p.Ser193Arg) c.1251A>C (p.Ser417=) c.1206A>C (p.Ser402=) c.425-1277A>C c.984A>C (p.Ser328=) c.*1061A>C (n.*1061A>C) | |
X | g.48904743G>A | CA412893931 | SLC35A2 | c.1163+3C>T (n.1163+3C>T) c.504C>T (p.Val168=) c.1166C>T (p.Ser389Leu) c.573+3C>T (n.573+3C>T) c.728C>T c.576C>T (p.Val192=) c.1250C>T (p.Ser417Leu) c.1205C>T (p.Ser402Leu) c.425-1278C>T c.983C>T (p.Ser328Leu) c.*1060C>T (n.*1060C>T) | |
X | g.48904743G>C | CA412893932 | SLC35A2 | c.1163+3C>G (n.1163+3C>G) c.504C>G (p.Val168=) c.1166C>G (p.Ser389Ter) c.573+3C>G (n.573+3C>G) c.728C>G c.576C>G (p.Val192=) c.1250C>G (p.Ser417Ter) c.1205C>G (p.Ser402Ter) c.425-1278C>G c.983C>G (p.Ser328Ter) c.*1060C>G (n.*1060C>G) | |
X | g.48904743G>T | CA412893933 | SLC35A2 | c.1163+3C>A (n.1163+3C>A) c.504C>A (p.Val168=) c.1166C>A (p.Ser389Ter) c.573+3C>A (n.573+3C>A) c.728C>A c.576C>A (p.Val192=) c.1250C>A (p.Ser417Ter) c.1205C>A (p.Ser402Ter) c.425-1278C>A c.983C>A (p.Ser328Ter) c.*1060C>A (n.*1060C>A) | |
X | g.48904744A>C | CA412893934 | SLC35A2 | c.1163+2T>G (n.1163+2T>G) c.503T>G (p.Val168Gly) c.1165T>G (p.Ser389Ala) c.573+2T>G (n.573+2T>G) c.727T>G c.575T>G (p.Val192Gly) c.1249T>G (p.Ser417Ala) c.1204T>G (p.Ser402Ala) c.425-1279T>G c.982T>G (p.Ser328Ala) c.*1059T>G (n.*1059T>G) | |
X | g.48904744A>G | CA412893935 | SLC35A2 | c.1163+2T>C (n.1163+2T>C) c.503T>C (p.Val168Ala) c.1165T>C (p.Ser389Pro) c.573+2T>C (n.573+2T>C) c.727T>C c.575T>C (p.Val192Ala) c.1249T>C (p.Ser417Pro) c.1204T>C (p.Ser402Pro) c.425-1279T>C c.982T>C (p.Ser328Pro) c.*1059T>C (n.*1059T>C) | |
X | g.48904744A>T | CA412893936 | SLC35A2 | c.1163+2T>A (n.1163+2T>A) c.503T>A (p.Val168Asp) c.1165T>A (p.Ser389Thr) c.573+2T>A (n.573+2T>A) c.727T>A c.575T>A (p.Val192Asp) c.1249T>A (p.Ser417Thr) c.1204T>A (p.Ser402Thr) c.425-1279T>A c.982T>A (p.Ser328Thr) c.*1059T>A (n.*1059T>A) | |
X | g.48904745C>A | CA412893937 | SLC35A2 | c.1163+1G>T (n.1163+1G>T) c.502G>T (p.Val168Phe) c.1164G>T (p.Lys388Asn) c.573+1G>T (n.573+1G>T) c.726G>T c.574G>T (p.Val192Phe) c.1248G>T (p.Lys416Asn) c.1203G>T (p.Lys401Asn) c.425-1280G>T c.981G>T (p.Lys327Asn) c.*1058G>T (n.*1058G>T) | |
X | g.48904745C>G | CA412893938 | SLC35A2 | c.1163+1G>C (n.1163+1G>C) c.502G>C (p.Val168Leu) c.1164G>C (p.Lys388Asn) c.573+1G>C (n.573+1G>C) c.726G>C c.574G>C (p.Val192Leu) c.1248G>C (p.Lys416Asn) c.1203G>C (p.Lys401Asn) c.425-1280G>C c.981G>C (p.Lys327Asn) c.*1058G>C (n.*1058G>C) | |
X | g.48904745C>T | CA412893939 | SLC35A2 | c.1163+1G>A (n.1163+1G>A) c.502G>A (p.Val168Ile) c.1164G>A (p.Lys388=) c.573+1G>A (n.573+1G>A) c.726G>A c.574G>A (p.Val192Ile) c.1248G>A (p.Lys416=) c.1203G>A (p.Lys401=) c.425-1280G>A c.981G>A (p.Lys327=) c.*1058G>A (n.*1058G>A) | |
X | g.48904746T>A | CA412893940 | SLC35A2 | c.1163A>T (p.Lys388Met) c.501A>T (p.Lys167Asn) c.573A>T (p.Lys191Asn) c.725A>T c.1247A>T (p.Lys416Met) c.1202A>T (p.Lys401Met) c.425-1281A>T c.980A>T (p.Lys327Met) c.*1057A>T (n.*1057A>T) | |
X | g.48904746T>C | CA412893941 | SLC35A2 | c.1163A>G (p.Lys388Arg) c.501A>G (p.Lys167=) c.573A>G (p.Lys191=) c.725A>G c.1247A>G (p.Lys416Arg) c.1202A>G (p.Lys401Arg) c.425-1281A>G c.980A>G (p.Lys327Arg) c.*1057A>G (n.*1057A>G) | |
X | g.48904746T>G | CA412893942 | SLC35A2 | c.1163A>C (p.Lys388Thr) c.501A>C (p.Lys167Asn) c.573A>C (p.Lys191Asn) c.725A>C c.1247A>C (p.Lys416Thr) c.1202A>C (p.Lys401Thr) c.425-1281A>C c.980A>C (p.Lys327Thr) c.*1057A>C (n.*1057A>C) | |
X | g.48904747T>A | CA412893944 | SLC35A2 | c.1162A>T (p.Lys388Ter) c.500A>T (p.Lys167Ile) c.572A>T (p.Lys191Ile) c.724A>T c.1246A>T (p.Lys416Ter) c.1201A>T (p.Lys401Ter) c.425-1282A>T c.979A>T (p.Lys327Ter) c.*1056A>T (n.*1056A>T) | |
X | g.48904747T>C | CA10406046 | SLC35A2 | c.1162A>G (p.Lys388Glu) c.500A>G (p.Lys167Arg) c.572A>G (p.Lys191Arg) c.724A>G c.1246A>G (p.Lys416Glu) c.1201A>G (p.Lys401Glu) c.425-1282A>G c.979A>G (p.Lys327Glu) c.*1056A>G (n.*1056A>G) | dbSNP ExAC gnomAD v4 |
X | g.48904747T>G | CA412893943 | SLC35A2 | c.1162A>C (p.Lys388Gln) c.500A>C (p.Lys167Thr) c.572A>C (p.Lys191Thr) c.724A>C c.1246A>C (p.Lys416Gln) c.1201A>C (p.Lys401Gln) c.425-1282A>C c.979A>C (p.Lys327Gln) c.*1056A>C (n.*1056A>C) | |
X | g.48904747T= | CA2428428761 | SLC35A2 | c.1162A= (p.Lys388=) c.500A= (p.Lys167=) c.572A= (p.Lys191=) c.724A= c.1246A= (p.Lys416=) c.1201A= (p.Lys401=) c.425-1282A= c.979A= (p.Lys327=) c.*1056A= (n.*1056A=) | |
X | g.48904748T>A | CA412893945 | SLC35A2 | c.1161A>T (p.Pro387=) c.499A>T (p.Lys167Ter) c.571A>T (p.Lys191Ter) c.723A>T c.1245A>T (p.Pro415=) c.1200A>T (p.Pro400=) c.425-1283A>T c.978A>T (p.Pro326=) c.*1055A>T (n.*1055A>T) | |
X | g.48904748T>C | CA412893946 | SLC35A2 | c.1161A>G (p.Pro387=) c.499A>G (p.Lys167Glu) c.571A>G (p.Lys191Glu) c.723A>G c.1245A>G (p.Pro415=) c.1200A>G (p.Pro400=) c.425-1283A>G c.978A>G (p.Pro326=) c.*1055A>G (n.*1055A>G) | |
X | g.48904748T>G | CA412893947 | SLC35A2 | c.1161A>C (p.Pro387=) c.499A>C (p.Lys167Gln) c.571A>C (p.Lys191Gln) c.723A>C c.1245A>C (p.Pro415=) c.1200A>C (p.Pro400=) c.425-1283A>C c.978A>C (p.Pro326=) c.*1055A>C (n.*1055A>C) | |
X | g.48904749G>A | CA412893948 | SLC35A2 | c.1160C>T (p.Pro387Leu) c.498C>T (p.Ala166=) c.570C>T (p.Ala190=) c.722C>T c.1244C>T (p.Pro415Leu) c.1199C>T (p.Pro400Leu) c.425-1284C>T c.977C>T (p.Pro326Leu) c.*1054C>T (n.*1054C>T) | |
X | g.48904749G>C | CA412893949 | SLC35A2 | c.1160C>G (p.Pro387Arg) c.498C>G (p.Ala166=) c.570C>G (p.Ala190=) c.722C>G c.1244C>G (p.Pro415Arg) c.1199C>G (p.Pro400Arg) c.425-1284C>G c.977C>G (p.Pro326Arg) c.*1054C>G (n.*1054C>G) | |
X | g.48904749G>T | CA412893950 | SLC35A2 | c.1160C>A (p.Pro387Gln) c.498C>A (p.Ala166=) c.570C>A (p.Ala190=) c.722C>A c.1244C>A (p.Pro415Gln) c.1199C>A (p.Pro400Gln) c.425-1284C>A c.977C>A (p.Pro326Gln) c.*1054C>A (n.*1054C>A) | |
X | g.48904750G>A | CA412893951 | SLC35A2 | c.1159C>T (p.Pro387Ser) c.497C>T (p.Ala166Val) c.569C>T (p.Ala190Val) c.721C>T c.1243C>T (p.Pro415Ser) c.1198C>T (p.Pro400Ser) c.425-1285C>T c.976C>T (p.Pro326Ser) c.*1053C>T (n.*1053C>T) | |
X | g.48904750G>C | CA412893952 | SLC35A2 | c.1159C>G (p.Pro387Ala) c.497C>G (p.Ala166Gly) c.569C>G (p.Ala190Gly) c.721C>G c.1243C>G (p.Pro415Ala) c.1198C>G (p.Pro400Ala) c.425-1285C>G c.976C>G (p.Pro326Ala) c.*1053C>G (n.*1053C>G) | |
X | g.48904750G>T | CA412893953 | SLC35A2 | c.1159C>A (p.Pro387Thr) c.497C>A (p.Ala166Asp) c.569C>A (p.Ala190Asp) c.721C>A c.1243C>A (p.Pro415Thr) c.1198C>A (p.Pro400Thr) c.425-1285C>A c.976C>A (p.Pro326Thr) c.*1053C>A (n.*1053C>A) | |
X | g.48904751C>A | CA412893954 | SLC35A2 | c.1158G>T (p.Leu386=) c.496G>T (p.Ala166Ser) c.568G>T (p.Ala190Ser) c.720G>T c.1242G>T (p.Leu414=) c.1197G>T (p.Leu399=) c.425-1286G>T c.975G>T (p.Leu325=) c.*1052G>T (n.*1052G>T) | |
X | g.48904751C>G | CA412893955 | SLC35A2 | c.1158G>C (p.Leu386=) c.496G>C (p.Ala166Pro) c.568G>C (p.Ala190Pro) c.720G>C c.1242G>C (p.Leu414=) c.1197G>C (p.Leu399=) c.425-1286G>C c.975G>C (p.Leu325=) c.*1052G>C (n.*1052G>C) | |
X | g.48904751C>T | CA412893956 | SLC35A2 | c.1158G>A (p.Leu386=) c.496G>A (p.Ala166Thr) c.568G>A (p.Ala190Thr) c.720G>A c.1242G>A (p.Leu414=) c.1197G>A (p.Leu399=) c.425-1286G>A c.975G>A (p.Leu325=) c.*1052G>A (n.*1052G>A) | |
X | g.48904752del | CA2820821161 | SLC35A2 | c.1157del (p.Leu386ArgfsTer8) c.495del (p.Ala166ProfsTer8) c.1157del (p.Leu386ArgfsTer7) c.567del (p.Ala190ProfsTer11) c.719del c.567del (p.Ala190ProfsTer8) c.1241del (p.Leu414ArgfsTer7) c.1196del (p.Leu399ArgfsTer7) c.425-1287del c.974del (p.Leu325ArgfsTer7) c.*1051del (n.*1051del) | |
X | g.48904752A>C | CA412893958 | SLC35A2 | c.1157T>G (p.Leu386Arg) c.495T>G (p.Ser165=) c.567T>G (p.Ser189=) c.719T>G c.1241T>G (p.Leu414Arg) c.1196T>G (p.Leu399Arg) c.425-1287T>G c.974T>G (p.Leu325Arg) c.*1051T>G (n.*1051T>G) | |
X | g.48904752A>G | CA412893959 | SLC35A2 | c.1157T>C (p.Leu386Pro) c.495T>C (p.Ser165=) c.567T>C (p.Ser189=) c.719T>C c.1241T>C (p.Leu414Pro) c.1196T>C (p.Leu399Pro) c.425-1287T>C c.974T>C (p.Leu325Pro) c.*1051T>C (n.*1051T>C) | |
X | g.48904752A>T | CA412893957 | SLC35A2 | c.1157T>A (p.Leu386Gln) c.495T>A (p.Ser165=) c.567T>A (p.Ser189=) c.719T>A c.1241T>A (p.Leu414Gln) c.1196T>A (p.Leu399Gln) c.425-1287T>A c.974T>A (p.Leu325Gln) c.*1051T>A (n.*1051T>A) | |
X | g.48904753G>A | CA412893960 | SLC35A2 | c.1156C>T (p.Leu386=) c.494C>T (p.Ser165Phe) c.566C>T (p.Ser189Phe) c.718C>T c.1240C>T (p.Leu414=) c.1195C>T (p.Leu399=) c.425-1288C>T c.973C>T (p.Leu325=) c.*1050C>T (n.*1050C>T) | ClinVar dbSNP gnomAD v4 |
X | g.48904753G>C | CA412893961 | SLC35A2 | c.1156C>G (p.Leu386Val) c.494C>G (p.Ser165Cys) c.566C>G (p.Ser189Cys) c.718C>G c.1240C>G (p.Leu414Val) c.1195C>G (p.Leu399Val) c.425-1288C>G c.973C>G (p.Leu325Val) c.*1050C>G (n.*1050C>G) | |
X | g.48904753G= | CA2428428762 | SLC35A2 | c.1156C= (p.Leu386=) c.494C= (p.Ser165=) c.566C= (p.Ser189=) c.718C= c.1240C= (p.Leu414=) c.1195C= (p.Leu399=) c.425-1288C= c.973C= (p.Leu325=) c.*1050C= (n.*1050C=) | |
X | g.48904753G>T | CA412893962 | SLC35A2 | c.1156C>A (p.Leu386Met) c.494C>A (p.Ser165Tyr) c.566C>A (p.Ser189Tyr) c.718C>A c.1240C>A (p.Leu414Met) c.1195C>A (p.Leu399Met) c.425-1288C>A c.973C>A (p.Leu325Met) c.*1050C>A (n.*1050C>A) | |
X | g.48904754A>C | CA412893963 | SLC35A2 | c.1155T>G (p.Phe385Leu) c.493T>G (p.Ser165Ala) c.565T>G (p.Ser189Ala) c.717T>G c.1239T>G (p.Phe413Leu) c.1194T>G (p.Phe398Leu) c.425-1289T>G c.972T>G (p.Phe324Leu) c.*1049T>G (n.*1049T>G) | |
X | g.48904754A>G | CA412893964 | SLC35A2 | c.1155T>C (p.Phe385=) c.493T>C (p.Ser165Pro) c.565T>C (p.Ser189Pro) c.717T>C c.1239T>C (p.Phe413=) c.1194T>C (p.Phe398=) c.425-1289T>C c.972T>C (p.Phe324=) c.*1049T>C (n.*1049T>C) | |
X | g.48904754A>T | CA412893965 | SLC35A2 | c.1155T>A (p.Phe385Leu) c.493T>A (p.Ser165Thr) c.565T>A (p.Ser189Thr) c.717T>A c.1239T>A (p.Phe413Leu) c.1194T>A (p.Phe398Leu) c.425-1289T>A c.972T>A (p.Phe324Leu) c.*1049T>A (n.*1049T>A) | |
X | g.48904755A>C | CA412893968 | SLC35A2 | c.1154T>G (p.Phe385Cys) c.492T>G (p.Leu164=) c.564T>G (p.Leu188=) c.716T>G c.1238T>G (p.Phe413Cys) c.1193T>G (p.Phe398Cys) c.425-1290T>G c.971T>G (p.Phe324Cys) c.*1048T>G (n.*1048T>G) | |
X | g.48904755A>G | CA412893966 | SLC35A2 | c.1154T>C (p.Phe385Ser) c.492T>C (p.Leu164=) c.564T>C (p.Leu188=) c.716T>C c.1238T>C (p.Phe413Ser) c.1193T>C (p.Phe398Ser) c.425-1290T>C c.971T>C (p.Phe324Ser) c.*1048T>C (n.*1048T>C) | |
X | g.48904755A>T | CA412893967 | SLC35A2 | c.1154T>A (p.Phe385Tyr) c.492T>A (p.Leu164=) c.564T>A (p.Leu188=) c.716T>A c.1238T>A (p.Phe413Tyr) c.1193T>A (p.Phe398Tyr) c.425-1290T>A c.971T>A (p.Phe324Tyr) c.*1048T>A (n.*1048T>A) | |
X | g.48904756A>C | CA412893969 | SLC35A2 | c.1153T>G (p.Phe385Val) c.491T>G (p.Leu164Arg) c.563T>G (p.Leu188Arg) c.715T>G c.1237T>G (p.Phe413Val) c.1192T>G (p.Phe398Val) c.425-1291T>G c.970T>G (p.Phe324Val) c.*1047T>G (n.*1047T>G) | |
X | g.48904756A>G | CA412893970 | SLC35A2 | c.1153T>C (p.Phe385Leu) c.491T>C (p.Leu164Pro) c.563T>C (p.Leu188Pro) c.715T>C c.1237T>C (p.Phe413Leu) c.1192T>C (p.Phe398Leu) c.425-1291T>C c.970T>C (p.Phe324Leu) c.*1047T>C (n.*1047T>C) | |
X | g.48904756A>T | CA412893971 | SLC35A2 | c.1153T>A (p.Phe385Ile) c.491T>A (p.Leu164His) c.563T>A (p.Leu188His) c.715T>A c.1237T>A (p.Phe413Ile) c.1192T>A (p.Phe398Ile) c.425-1291T>A c.970T>A (p.Phe324Ile) c.*1047T>A (n.*1047T>A) | |
X | g.48904757G>A | CA412893972 | SLC35A2 | c.1152C>T (p.Pro384=) c.490C>T (p.Leu164Phe) c.562C>T (p.Leu188Phe) c.714C>T c.1236C>T (p.Pro412=) c.1191C>T (p.Pro397=) c.425-1292C>T c.969C>T (p.Pro323=) c.*1046C>T (n.*1046C>T) | |
X | g.48904757G>C | CA412893973 | SLC35A2 | c.1152C>G (p.Pro384=) c.490C>G (p.Leu164Val) c.562C>G (p.Leu188Val) c.714C>G c.1236C>G (p.Pro412=) c.1191C>G (p.Pro397=) c.425-1292C>G c.969C>G (p.Pro323=) c.*1046C>G (n.*1046C>G) | |
X | g.48904757G>T | CA412893974 | SLC35A2 | c.1152C>A (p.Pro384=) c.490C>A (p.Leu164Ile) c.562C>A (p.Leu188Ile) c.714C>A c.1236C>A (p.Pro412=) c.1191C>A (p.Pro397=) c.425-1292C>A c.969C>A (p.Pro323=) c.*1046C>A (n.*1046C>A) | |
X | g.48904758G>A | CA412893975 | SLC35A2 | c.1151C>T (p.Pro384Leu) c.489C>T (p.Ala163=) c.561C>T (p.Ala187=) c.713C>T c.1235C>T (p.Pro412Leu) c.1190C>T (p.Pro397Leu) c.425-1293C>T c.968C>T (p.Pro323Leu) c.*1045C>T (n.*1045C>T) | gnomAD v4 |
X | g.48904758G>C | CA412893977 | SLC35A2 | c.1151C>G (p.Pro384Arg) c.489C>G (p.Ala163=) c.561C>G (p.Ala187=) c.713C>G c.1235C>G (p.Pro412Arg) c.1190C>G (p.Pro397Arg) c.425-1293C>G c.968C>G (p.Pro323Arg) c.*1045C>G (n.*1045C>G) | |
X | g.48904758G>T | CA412893976 | SLC35A2 | c.1151C>A (p.Pro384His) c.489C>A (p.Ala163=) c.561C>A (p.Ala187=) c.713C>A c.1235C>A (p.Pro412His) c.1190C>A (p.Pro397His) c.425-1293C>A c.968C>A (p.Pro323His) c.*1045C>A (n.*1045C>A) | |
X | g.48904759G>A | CA412893978 | SLC35A2 | c.1150C>T (p.Pro384Ser) c.488C>T (p.Ala163Val) c.560C>T (p.Ala187Val) c.712C>T c.1234C>T (p.Pro412Ser) c.1189C>T (p.Pro397Ser) c.425-1294C>T c.967C>T (p.Pro323Ser) c.*1044C>T (n.*1044C>T) | |
X | g.48904759G>C | CA412893979 | SLC35A2 | c.1150C>G (p.Pro384Ala) c.488C>G (p.Ala163Gly) c.560C>G (p.Ala187Gly) c.712C>G c.1234C>G (p.Pro412Ala) c.1189C>G (p.Pro397Ala) c.425-1294C>G c.967C>G (p.Pro323Ala) c.*1044C>G (n.*1044C>G) | |
X | g.48904759G>T | CA412893980 | SLC35A2 | c.1150C>A (p.Pro384Thr) c.488C>A (p.Ala163Asp) c.560C>A (p.Ala187Asp) c.712C>A c.1234C>A (p.Pro412Thr) c.1189C>A (p.Pro397Thr) c.425-1294C>A c.967C>A (p.Pro323Thr) c.*1044C>A (n.*1044C>A) | gnomAD v4 |
X | g.48904760C>A | CA412893981 | SLC35A2 | c.1149G>T (p.Glu383Asp) c.487G>T (p.Ala163Ser) c.559G>T (p.Ala187Ser) c.711G>T c.1233G>T (p.Glu411Asp) c.1188G>T (p.Glu396Asp) c.425-1295G>T c.966G>T (p.Glu322Asp) c.*1043G>T (n.*1043G>T) | |
X | g.48904760C= | CA2428428763 | SLC35A2 | c.1149G= (p.Glu383=) c.487G= (p.Ala163=) c.559G= (p.Ala187=) c.711G= c.1233G= (p.Glu411=) c.1188G= (p.Glu396=) c.425-1295G= c.966G= (p.Glu322=) c.*1043G= (n.*1043G=) | |
X | g.48904760C>G | CA412893982 | SLC35A2 | c.1149G>C (p.Glu383Asp) c.487G>C (p.Ala163Pro) c.559G>C (p.Ala187Pro) c.711G>C c.1233G>C (p.Glu411Asp) c.1188G>C (p.Glu396Asp) c.425-1295G>C c.966G>C (p.Glu322Asp) c.*1043G>C (n.*1043G>C) | |
X | g.48904760C>T | CA412893983 | SLC35A2 | c.1149G>A (p.Glu383=) c.487G>A (p.Ala163Thr) c.559G>A (p.Ala187Thr) c.711G>A c.1233G>A (p.Glu411=) c.1188G>A (p.Glu396=) c.425-1295G>A c.966G>A (p.Glu322=) c.*1043G>A (n.*1043G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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) |