UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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) | |
| X | g.48904862G>A | CA412894335 | SLC35A2 | c.1047C>T (p.Ala349=) c.385C>T (p.Leu129Phe) c.457C>T (p.Leu153Phe) c.609C>T c.1131C>T (p.Ala377=) c.1086C>T (p.Ala362=) c.425-1397C>T c.864C>T (p.Ala288=) c.*941C>T (n.*941C>T) | |
| X | g.48904862G>C | CA412894339 | SLC35A2 | c.1047C>G (p.Ala349=) c.385C>G (p.Leu129Val) c.457C>G (p.Leu153Val) c.609C>G c.1131C>G (p.Ala377=) c.1086C>G (p.Ala362=) c.425-1397C>G c.864C>G (p.Ala288=) c.*941C>G (n.*941C>G) | gnomAD v4 |
| X | g.48904862G>T | CA412894337 | SLC35A2 | c.1047C>A (p.Ala349=) c.385C>A (p.Leu129Ile) c.457C>A (p.Leu153Ile) c.609C>A c.1131C>A (p.Ala377=) c.1086C>A (p.Ala362=) c.425-1397C>A c.864C>A (p.Ala288=) c.*941C>A (n.*941C>A) | |
| X | g.48904863G>A | CA412894341 | SLC35A2 | c.1046C>T (p.Ala349Val) c.384C>T (p.Ser128=) c.456C>T (p.Ser152=) c.608C>T c.1130C>T (p.Ala377Val) c.1085C>T (p.Ala362Val) c.425-1398C>T c.863C>T (p.Ala288Val) c.*940C>T (n.*940C>T) | |
| X | g.48904863G>C | CA412894344 | SLC35A2 | c.1046C>G (p.Ala349Gly) c.384C>G (p.Ser128Arg) c.456C>G (p.Ser152Arg) c.608C>G c.1130C>G (p.Ala377Gly) c.1085C>G (p.Ala362Gly) c.425-1398C>G c.863C>G (p.Ala288Gly) c.*940C>G (n.*940C>G) | |
| X | g.48904863G>T | CA412894343 | SLC35A2 | c.1046C>A (p.Ala349Asp) c.384C>A (p.Ser128Arg) c.456C>A (p.Ser152Arg) c.608C>A c.1130C>A (p.Ala377Asp) c.1085C>A (p.Ala362Asp) c.425-1398C>A c.863C>A (p.Ala288Asp) c.*940C>A (n.*940C>A) | gnomAD v4 |
| X | g.48904864C>A | CA412894347 | SLC35A2 | c.1045G>T (p.Ala349Ser) c.383G>T (p.Ser128Ile) c.455G>T (p.Ser152Ile) c.607G>T c.1129G>T (p.Ala377Ser) c.1084G>T (p.Ala362Ser) c.425-1399G>T c.862G>T (p.Ala288Ser) c.*939G>T (n.*939G>T) | gnomAD v4 |
| X | g.48904864C>G | CA412894350 | SLC35A2 | c.1045G>C (p.Ala349Pro) c.383G>C (p.Ser128Thr) c.455G>C (p.Ser152Thr) c.607G>C c.1129G>C (p.Ala377Pro) c.1084G>C (p.Ala362Pro) c.425-1399G>C c.862G>C (p.Ala288Pro) c.*939G>C (n.*939G>C) | |
| X | g.48904864C>T | CA412894349 | SLC35A2 | c.1045G>A (p.Ala349Thr) c.383G>A (p.Ser128Asn) c.455G>A (p.Ser152Asn) c.607G>A c.1129G>A (p.Ala377Thr) c.1084G>A (p.Ala362Thr) c.425-1399G>A c.862G>A (p.Ala288Thr) c.*939G>A (n.*939G>A) | |
| X | g.48904865T>A | CA412894353 | SLC35A2 | c.1044A>T (p.Ile348=) c.382A>T (p.Ser128Cys) c.454A>T (p.Ser152Cys) c.606A>T c.1128A>T (p.Ile376=) c.1083A>T (p.Ile361=) c.425-1400A>T c.861A>T (p.Ile287=) c.*938A>T (n.*938A>T) | |
| X | g.48904865T>C | CA412894357 | SLC35A2 | c.1044A>G (p.Ile348Met) c.382A>G (p.Ser128Gly) c.454A>G (p.Ser152Gly) c.606A>G c.1128A>G (p.Ile376Met) c.1083A>G (p.Ile361Met) c.425-1400A>G c.861A>G (p.Ile287Met) c.*938A>G (n.*938A>G) | |
| X | g.48904865T>G | CA412894355 | SLC35A2 | c.1044A>C (p.Ile348=) c.382A>C (p.Ser128Arg) c.454A>C (p.Ser152Arg) c.606A>C c.1128A>C (p.Ile376=) c.1083A>C (p.Ile361=) c.425-1400A>C c.861A>C (p.Ile287=) c.*938A>C (n.*938A>C) | |
| X | g.48904866A>C | CA412894358 | SLC35A2 | c.1043T>G (p.Ile348Arg) c.381T>G (p.His127Gln) c.453T>G (p.His151Gln) c.605T>G c.1127T>G (p.Ile376Arg) c.1082T>G (p.Ile361Arg) c.425-1401T>G c.860T>G (p.Ile287Arg) c.*937T>G (n.*937T>G) | |
| X | g.48904866A>G | CA412894360 | SLC35A2 | c.1043T>C (p.Ile348Thr) c.381T>C (p.His127=) c.453T>C (p.His151=) c.605T>C c.1127T>C (p.Ile376Thr) c.1082T>C (p.Ile361Thr) c.425-1401T>C c.860T>C (p.Ile287Thr) c.*937T>C (n.*937T>C) | gnomAD v4 |
| X | g.48904866A>T | CA412894362 | SLC35A2 | c.1043T>A (p.Ile348Lys) c.381T>A (p.His127Gln) c.453T>A (p.His151Gln) c.605T>A c.1127T>A (p.Ile376Lys) c.1082T>A (p.Ile361Lys) c.425-1401T>A c.860T>A (p.Ile287Lys) c.*937T>A (n.*937T>A) | |
| X | g.48904867T>A | CA412894364 | SLC35A2 | c.1042A>T (p.Ile348Leu) c.380A>T (p.His127Leu) c.452A>T (p.His151Leu) c.604A>T c.1126A>T (p.Ile376Leu) c.1081A>T (p.Ile361Leu) c.425-1402A>T c.859A>T (p.Ile287Leu) c.*936A>T (n.*936A>T) | |
| X | g.48904867T>C | CA412894366 | SLC35A2 | c.1042A>G (p.Ile348Val) c.380A>G (p.His127Arg) c.452A>G (p.His151Arg) c.604A>G c.1126A>G (p.Ile376Val) c.1081A>G (p.Ile361Val) c.425-1402A>G c.859A>G (p.Ile287Val) c.*936A>G (n.*936A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48904867T>G | CA412894368 | SLC35A2 | c.1042A>C (p.Ile348Leu) c.380A>C (p.His127Pro) c.452A>C (p.His151Pro) c.604A>C c.1126A>C (p.Ile376Leu) c.1081A>C (p.Ile361Leu) c.425-1402A>C c.859A>C (p.Ile287Leu) c.*936A>C (n.*936A>C) | |
| X | g.48904867T= | CA2428428806 | SLC35A2 | c.1042A= (p.Ile348=) c.380A= (p.His127=) c.452A= (p.His151=) c.604A= c.1126A= (p.Ile376=) c.1081A= (p.Ile361=) c.425-1402A= c.859A= (p.Ile287=) c.*936A= (n.*936A=) | |
| X | g.48904868G>A | CA412894372 | SLC35A2 | c.1041C>T (p.Ala347=) c.379C>T (p.His127Tyr) c.451C>T (p.His151Tyr) c.603C>T c.1125C>T (p.Ala375=) c.1080C>T (p.Ala360=) c.425-1403C>T c.858C>T (p.Ala286=) c.*935C>T (n.*935C>T) | |
| X | g.48904868G>C | CA412894373 | SLC35A2 | c.1041C>G (p.Ala347=) c.379C>G (p.His127Asp) c.451C>G (p.His151Asp) c.603C>G c.1125C>G (p.Ala375=) c.1080C>G (p.Ala360=) c.425-1403C>G c.858C>G (p.Ala286=) c.*935C>G (n.*935C>G) | |
| X | g.48904868G>T | CA412894376 | SLC35A2 | c.1041C>A (p.Ala347=) c.379C>A (p.His127Asn) c.451C>A (p.His151Asn) c.603C>A c.1125C>A (p.Ala375=) c.1080C>A (p.Ala360=) c.425-1403C>A c.858C>A (p.Ala286=) c.*935C>A (n.*935C>A) | |
| X | g.48904869G>A | CA412894378 | SLC35A2 | c.1040C>T (p.Ala347Val) c.378C>T (p.Ser126=) c.450C>T (p.Ser150=) c.602C>T c.1124C>T (p.Ala375Val) c.1079C>T (p.Ala360Val) c.425-1404C>T c.857C>T (p.Ala286Val) c.*934C>T (n.*934C>T) | |
| X | g.48904869G>C | CA412894380 | SLC35A2 | c.1040C>G (p.Ala347Gly) c.378C>G (p.Ser126Arg) c.450C>G (p.Ser150Arg) c.602C>G c.1124C>G (p.Ala375Gly) c.1079C>G (p.Ala360Gly) c.425-1404C>G c.857C>G (p.Ala286Gly) c.*934C>G (n.*934C>G) | |
| X | g.48904869G>T | CA412894382 | SLC35A2 | c.1040C>A (p.Ala347Asp) c.378C>A (p.Ser126Arg) c.450C>A (p.Ser150Arg) c.602C>A c.1124C>A (p.Ala375Asp) c.1079C>A (p.Ala360Asp) c.425-1404C>A c.857C>A (p.Ala286Asp) c.*934C>A (n.*934C>A) | |
| X | g.48904870C>A | CA412894384 | SLC35A2 | c.1039G>T (p.Ala347Ser) c.377G>T (p.Ser126Ile) c.449G>T (p.Ser150Ile) c.601G>T c.1123G>T (p.Ala375Ser) c.1078G>T (p.Ala360Ser) c.425-1405G>T c.856G>T (p.Ala286Ser) c.*933G>T (n.*933G>T) | |
| X | g.48904870C= | CA2428428807 | SLC35A2 | c.1039G= (p.Ala347=) c.377G= (p.Ser126=) c.449G= (p.Ser150=) c.601G= c.1123G= (p.Ala375=) c.1078G= (p.Ala360=) c.425-1405G= c.856G= (p.Ala286=) c.*933G= (n.*933G=) | |
| X | g.48904870C>G | CA412894388 | SLC35A2 | c.1039G>C (p.Ala347Pro) c.377G>C (p.Ser126Thr) c.449G>C (p.Ser150Thr) c.601G>C c.1123G>C (p.Ala375Pro) c.1078G>C (p.Ala360Pro) c.425-1405G>C c.856G>C (p.Ala286Pro) c.*933G>C (n.*933G>C) | |
| X | g.48904870C>T | CA10406070 | SLC35A2 | c.1039G>A (p.Ala347Thr) c.377G>A (p.Ser126Asn) c.449G>A (p.Ser150Asn) c.601G>A c.1123G>A (p.Ala375Thr) c.1078G>A (p.Ala360Thr) c.425-1405G>A c.856G>A (p.Ala286Thr) c.*933G>A (n.*933G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48904871T>A | CA412894390 | SLC35A2 | c.1038A>T (p.Lys346Asn) c.376A>T (p.Ser126Cys) c.448A>T (p.Ser150Cys) c.600A>T c.1122A>T (p.Lys374Asn) c.1077A>T (p.Lys359Asn) c.425-1406A>T c.855A>T (p.Lys285Asn) c.*932A>T (n.*932A>T) | |
| X | g.48904871T>C | CA412894392 | SLC35A2 | c.1038A>G (p.Lys346=) c.376A>G (p.Ser126Gly) c.448A>G (p.Ser150Gly) c.600A>G c.1122A>G (p.Lys374=) c.1077A>G (p.Lys359=) c.425-1406A>G c.855A>G (p.Lys285=) c.*932A>G (n.*932A>G) | |
| X | g.48904871T>G | CA412894394 | SLC35A2 | c.1038A>C (p.Lys346Asn) c.376A>C (p.Ser126Arg) c.448A>C (p.Ser150Arg) c.600A>C c.1122A>C (p.Lys374Asn) c.1077A>C (p.Lys359Asn) c.425-1406A>C c.855A>C (p.Lys285Asn) c.*932A>C (n.*932A>C) | |
| X | g.48904872T>A | CA412894397 | SLC35A2 | c.1037A>T (p.Lys346Ile) c.375A>T (p.Gln125His) c.447A>T (p.Gln149His) c.599A>T c.1121A>T (p.Lys374Ile) c.1076A>T (p.Lys359Ile) c.425-1407A>T c.854A>T (p.Lys285Ile) c.*931A>T (n.*931A>T) | |
| X | g.48904872T>C | CA412894399 | SLC35A2 | c.1037A>G (p.Lys346Arg) c.375A>G (p.Gln125=) c.447A>G (p.Gln149=) c.599A>G c.1121A>G (p.Lys374Arg) c.1076A>G (p.Lys359Arg) c.425-1407A>G c.854A>G (p.Lys285Arg) c.*931A>G (n.*931A>G) | |
| X | g.48904872T>G | CA412894401 | SLC35A2 | c.1037A>C (p.Lys346Thr) c.375A>C (p.Gln125His) c.447A>C (p.Gln149His) c.599A>C c.1121A>C (p.Lys374Thr) c.1076A>C (p.Lys359Thr) c.425-1407A>C c.854A>C (p.Lys285Thr) c.*931A>C (n.*931A>C) | |
| X | g.48904873T>A | CA412894403 | SLC35A2 | c.1036A>T (p.Lys346Ter) c.374A>T (p.Gln125Leu) c.446A>T (p.Gln149Leu) c.598A>T c.1120A>T (p.Lys374Ter) c.1075A>T (p.Lys359Ter) c.425-1408A>T c.853A>T (p.Lys285Ter) c.*930A>T (n.*930A>T) | |
| X | g.48904873T>C | CA412894406 | SLC35A2 | c.1036A>G (p.Lys346Glu) c.374A>G (p.Gln125Arg) c.446A>G (p.Gln149Arg) c.598A>G c.1120A>G (p.Lys374Glu) c.1075A>G (p.Lys359Glu) c.425-1408A>G c.853A>G (p.Lys285Glu) c.*930A>G (n.*930A>G) | |
| X | g.48904873T>G | CA412894409 | SLC35A2 | c.1036A>C (p.Lys346Gln) c.374A>C (p.Gln125Pro) c.446A>C (p.Gln149Pro) c.598A>C c.1120A>C (p.Lys374Gln) c.1075A>C (p.Lys359Gln) c.425-1408A>C c.853A>C (p.Lys285Gln) c.*930A>C (n.*930A>C) | |
| X | g.48904874G>A | CA412894417 | SLC35A2 | c.1035C>T (p.Ala345=) c.373C>T (p.Gln125Ter) c.445C>T (p.Gln149Ter) c.597C>T c.1119C>T (p.Ala373=) c.1074C>T (p.Ala358=) c.425-1409C>T c.852C>T (p.Ala284=) c.*929C>T (n.*929C>T) | |
| X | g.48904874G>C | CA412894415 | SLC35A2 | c.1035C>G (p.Ala345=) c.373C>G (p.Gln125Glu) c.445C>G (p.Gln149Glu) c.597C>G c.1119C>G (p.Ala373=) c.1074C>G (p.Ala358=) c.425-1409C>G c.852C>G (p.Ala284=) c.*929C>G (n.*929C>G) | |
| X | g.48904874G>T | CA412894412 | SLC35A2 | c.1035C>A (p.Ala345=) c.373C>A (p.Gln125Lys) c.445C>A (p.Gln149Lys) c.597C>A c.1119C>A (p.Ala373=) c.1074C>A (p.Ala358=) c.425-1409C>A c.852C>A (p.Ala284=) c.*929C>A (n.*929C>A) | |
| X | g.48904875G>A | CA412894419 | SLC35A2 | c.1034C>T (p.Ala345Val) c.372C>T (p.Ser124=) c.444C>T (p.Ser148=) c.596C>T c.1118C>T (p.Ala373Val) c.1073C>T (p.Ala358Val) c.425-1410C>T c.851C>T (p.Ala284Val) c.*928C>T (n.*928C>T) | |
| X | g.48904875G>C | CA412894421 | SLC35A2 | c.1034C>G (p.Ala345Gly) c.372C>G (p.Ser124Arg) c.444C>G (p.Ser148Arg) c.596C>G c.1118C>G (p.Ala373Gly) c.1073C>G (p.Ala358Gly) c.425-1410C>G c.851C>G (p.Ala284Gly) c.*928C>G (n.*928C>G) | |
| X | g.48904875G>T | CA412894422 | SLC35A2 | c.1034C>A (p.Ala345Asp) c.372C>A (p.Ser124Arg) c.444C>A (p.Ser148Arg) c.596C>A c.1118C>A (p.Ala373Asp) c.1073C>A (p.Ala358Asp) c.425-1410C>A c.851C>A (p.Ala284Asp) c.*928C>A (n.*928C>A) | |
| X | g.48904876C>A | CA412894423 | SLC35A2 | c.1033G>T (p.Ala345Ser) c.371G>T (p.Ser124Ile) c.443G>T (p.Ser148Ile) c.595G>T c.1117G>T (p.Ala373Ser) c.1072G>T (p.Ala358Ser) c.425-1411G>T c.850G>T (p.Ala284Ser) c.*927G>T (n.*927G>T) | |
| X | g.48904876C= | CA2428428808 | SLC35A2 | c.1033G= (p.Ala345=) c.371G= (p.Ser124=) c.443G= (p.Ser148=) c.595G= c.1117G= (p.Ala373=) c.1072G= (p.Ala358=) c.425-1411G= c.850G= (p.Ala284=) c.*927G= (n.*927G=) | |
| X | g.48904876C>G | CA412894424 | SLC35A2 | c.1033G>C (p.Ala345Pro) c.371G>C (p.Ser124Thr) c.443G>C (p.Ser148Thr) c.595G>C c.1117G>C (p.Ala373Pro) c.1072G>C (p.Ala358Pro) c.425-1411G>C c.850G>C (p.Ala284Pro) c.*927G>C (n.*927G>C) | |
| X | g.48904876C>T | CA412894426 | SLC35A2 | c.1033G>A (p.Ala345Thr) c.371G>A (p.Ser124Asn) c.443G>A (p.Ser148Asn) c.595G>A c.1117G>A (p.Ala373Thr) c.1072G>A (p.Ala358Thr) c.425-1411G>A c.850G>A (p.Ala284Thr) c.*927G>A (n.*927G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48904877T>A | CA412894428 | SLC35A2 | c.1032A>T (p.Ala344=) c.370A>T (p.Ser124Cys) c.442A>T (p.Ser148Cys) c.594A>T c.1116A>T (p.Ala372=) c.1071A>T (p.Ala357=) c.425-1412A>T c.849A>T (p.Ala283=) c.*926A>T (n.*926A>T) | |
| X | g.48904877T>C | CA10406071 | SLC35A2 | c.1032A>G (p.Ala344=) c.370A>G (p.Ser124Gly) c.442A>G (p.Ser148Gly) c.594A>G c.1116A>G (p.Ala372=) c.1071A>G (p.Ala357=) c.425-1412A>G c.849A>G (p.Ala283=) c.*926A>G (n.*926A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904877T>G | CA412894431 | SLC35A2 | c.1032A>C (p.Ala344=) c.370A>C (p.Ser124Arg) c.442A>C (p.Ser148Arg) c.594A>C c.1116A>C (p.Ala372=) c.1071A>C (p.Ala357=) c.425-1412A>C c.849A>C (p.Ala283=) c.*926A>C (n.*926A>C) | |
| X | g.48904877T= | CA2428428809 | SLC35A2 | c.1032A= (p.Ala344=) c.370A= (p.Ser124=) c.442A= (p.Ser148=) c.594A= c.1116A= (p.Ala372=) c.1071A= (p.Ala357=) c.425-1412A= c.849A= (p.Ala283=) c.*926A= (n.*926A=) | |
| X | g.48904878G>A | CA412894433 | SLC35A2 | c.1031C>T (p.Ala344Val) c.369C>T (p.Cys123=) c.441C>T (p.Cys147=) c.593C>T c.1115C>T (p.Ala372Val) c.1070C>T (p.Ala357Val) c.425-1413C>T c.848C>T (p.Ala283Val) c.*925C>T (n.*925C>T) | dbSNP |
| X | g.48904878G>C | CA412894435 | SLC35A2 | c.1031C>G (p.Ala344Gly) c.369C>G (p.Cys123Trp) c.441C>G (p.Cys147Trp) c.593C>G c.1115C>G (p.Ala372Gly) c.1070C>G (p.Ala357Gly) c.425-1413C>G c.848C>G (p.Ala283Gly) c.*925C>G (n.*925C>G) | |
| X | g.48904878G= | CA2428428810 | SLC35A2 | c.1031C= (p.Ala344=) c.369C= (p.Cys123=) c.441C= (p.Cys147=) c.593C= c.1115C= (p.Ala372=) c.1070C= (p.Ala357=) c.425-1413C= c.848C= (p.Ala283=) c.*925C= (n.*925C=) | |
| X | g.48904878G>T | CA412894437 | SLC35A2 | c.1031C>A (p.Ala344Glu) c.369C>A (p.Cys123Ter) c.441C>A (p.Cys147Ter) c.593C>A c.1115C>A (p.Ala372Glu) c.1070C>A (p.Ala357Glu) c.425-1413C>A c.848C>A (p.Ala283Glu) c.*925C>A (n.*925C>A) | |
| X | g.48904879C>A | CA10406072 | SLC35A2 | c.1030G>T (p.Ala344Ser) c.368G>T (p.Cys123Phe) c.440G>T (p.Cys147Phe) c.592G>T c.1114G>T (p.Ala372Ser) c.1069G>T (p.Ala357Ser) c.425-1414G>T c.847G>T (p.Ala283Ser) c.*924G>T (n.*924G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904879C= | CA2428428811 | SLC35A2 | c.1030G= (p.Ala344=) c.368G= (p.Cys123=) c.440G= (p.Cys147=) c.592G= c.1114G= (p.Ala372=) c.1069G= (p.Ala357=) c.425-1414G= c.847G= (p.Ala283=) c.*924G= (n.*924G=) | |
| X | g.48904879C>G | CA412894439 | SLC35A2 | c.1030G>C (p.Ala344Pro) c.368G>C (p.Cys123Ser) c.440G>C (p.Cys147Ser) c.592G>C c.1114G>C (p.Ala372Pro) c.1069G>C (p.Ala357Pro) c.425-1414G>C c.847G>C (p.Ala283Pro) c.*924G>C (n.*924G>C) | |
| X | g.48904879C>T | CA412894441 | SLC35A2 | c.1030G>A (p.Ala344Thr) c.368G>A (p.Cys123Tyr) c.440G>A (p.Cys147Tyr) c.592G>A c.1114G>A (p.Ala372Thr) c.1069G>A (p.Ala357Thr) c.425-1414G>A c.847G>A (p.Ala283Thr) c.*924G>A (n.*924G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904880A>C | CA412894444 | SLC35A2 | c.1029T>G (p.Gly343=) c.367T>G (p.Cys123Gly) c.439T>G (p.Cys147Gly) c.591T>G c.1113T>G (p.Gly371=) c.1068T>G (p.Gly356=) c.425-1415T>G c.846T>G (p.Gly282=) c.*923T>G (n.*923T>G) | |
| X | g.48904880A>G | CA412894446 | SLC35A2 | c.1029T>C (p.Gly343=) c.367T>C (p.Cys123Arg) c.439T>C (p.Cys147Arg) c.591T>C c.1113T>C (p.Gly371=) c.1068T>C (p.Gly356=) c.425-1415T>C c.846T>C (p.Gly282=) c.*923T>C (n.*923T>C) | |
| X | g.48904880A>T | CA412894449 | SLC35A2 | c.1029T>A (p.Gly343=) c.367T>A (p.Cys123Ser) c.439T>A (p.Cys147Ser) c.591T>A c.1113T>A (p.Gly371=) c.1068T>A (p.Gly356=) c.425-1415T>A c.846T>A (p.Gly282=) c.*923T>A (n.*923T>A) | |
| X | g.48904881C>A | CA412894451 | SLC35A2 | c.1028G>T (p.Gly343Val) c.366G>T (p.Arg122Ser) c.438G>T (p.Arg146Ser) c.590G>T c.1112G>T (p.Gly371Val) c.1067G>T (p.Gly356Val) c.425-1416G>T c.845G>T (p.Gly282Val) c.*922G>T (n.*922G>T) | |
| X | g.48904881C= | CA2428428812 | SLC35A2 | c.1028G= (p.Gly343=) c.366G= (p.Arg122=) c.438G= (p.Arg146=) c.590G= c.1112G= (p.Gly371=) c.1067G= (p.Gly356=) c.425-1416G= c.845G= (p.Gly282=) c.*922G= (n.*922G=) | |
| X | g.48904881C>G | CA412894453 | SLC35A2 | c.1028G>C (p.Gly343Ala) c.366G>C (p.Arg122Ser) c.438G>C (p.Arg146Ser) c.590G>C c.1112G>C (p.Gly371Ala) c.1067G>C (p.Gly356Ala) c.425-1416G>C c.845G>C (p.Gly282Ala) c.*922G>C (n.*922G>C) | |
| X | g.48904881C>T | CA412894454 | SLC35A2 | c.1028G>A (p.Gly343Asp) c.366G>A (p.Arg122=) c.438G>A (p.Arg146=) c.590G>A c.1112G>A (p.Gly371Asp) c.1067G>A (p.Gly356Asp) c.425-1416G>A c.845G>A (p.Gly282Asp) c.*922G>A (n.*922G>A) | dbSNP |
| X | g.48904882C>A | CA412894456 | SLC35A2 | c.1027G>T (p.Gly343Cys) c.365G>T (p.Arg122Met) c.437G>T (p.Arg146Met) c.589G>T c.1111G>T (p.Gly371Cys) c.1066G>T (p.Gly356Cys) c.425-1417G>T c.844G>T (p.Gly282Cys) c.*921G>T (n.*921G>T) | |
| X | g.48904882C>G | CA412894458 | SLC35A2 | c.1027G>C (p.Gly343Arg) c.365G>C (p.Arg122Thr) c.437G>C (p.Arg146Thr) c.589G>C c.1111G>C (p.Gly371Arg) c.1066G>C (p.Gly356Arg) c.425-1417G>C c.844G>C (p.Gly282Arg) c.*921G>C (n.*921G>C) | |
| X | g.48904882C>T | CA412894460 | SLC35A2 | c.1027G>A (p.Gly343Ser) c.365G>A (p.Arg122Lys) c.437G>A (p.Arg146Lys) c.589G>A c.1111G>A (p.Gly371Ser) c.1066G>A (p.Gly356Ser) c.425-1417G>A c.844G>A (p.Gly282Ser) c.*921G>A (n.*921G>A) | |
| X | g.48904883T>A | CA412894462 | SLC35A2 | c.1026A>T (p.Arg342=) c.364A>T (p.Arg122Trp) c.436A>T (p.Arg146Trp) c.588A>T c.1110A>T (p.Arg370=) c.1065A>T (p.Arg355=) c.425-1418A>T c.843A>T (p.Arg281=) c.*920A>T (n.*920A>T) | |
| X | g.48904883T>C | CA412894464 | SLC35A2 | c.1026A>G (p.Arg342=) c.364A>G (p.Arg122Gly) c.436A>G (p.Arg146Gly) c.588A>G c.1110A>G (p.Arg370=) c.1065A>G (p.Arg355=) c.425-1418A>G c.843A>G (p.Arg281=) c.*920A>G (n.*920A>G) | |
| X | g.48904883T>G | CA516359950 | SLC35A2 | c.1026A>C (p.Arg342=) c.364A>C (p.Arg122=) c.436A>C (p.Arg146=) c.588A>C c.1110A>C (p.Arg370=) c.1065A>C (p.Arg355=) c.425-1418A>C c.843A>C (p.Arg281=) c.*920A>C (n.*920A>C) | |
| X | g.48904884C>A | CA412894469 | SLC35A2 | c.1025G>T (p.Arg342Leu) c.363G>T (p.Pro121=) c.435G>T (p.Pro145=) c.587G>T c.1109G>T (p.Arg370Leu) c.1064G>T (p.Arg355Leu) c.425-1419G>T c.842G>T (p.Arg281Leu) c.*919G>T (n.*919G>T) | |
| X | g.48904884C= | CA2428428813 | SLC35A2 | c.1025G= (p.Arg342=) c.363G= (p.Pro121=) c.435G= (p.Pro145=) c.587G= c.1109G= (p.Arg370=) c.1064G= (p.Arg355=) c.425-1419G= c.842G= (p.Arg281=) c.*919G= (n.*919G=) | |
| X | g.48904884C>G | CA412894467 | SLC35A2 | c.1025G>C (p.Arg342Pro) c.363G>C (p.Pro121=) c.435G>C (p.Pro145=) c.587G>C c.1109G>C (p.Arg370Pro) c.1064G>C (p.Arg355Pro) c.425-1419G>C c.842G>C (p.Arg281Pro) c.*919G>C (n.*919G>C) | dbSNP gnomAD v2 |
| X | g.48904884C>T | CA10406073 | SLC35A2 | c.1025G>A (p.Arg342Gln) c.363G>A (p.Pro121=) c.435G>A (p.Pro145=) c.587G>A c.1109G>A (p.Arg370Gln) c.1064G>A (p.Arg355Gln) c.425-1419G>A c.842G>A (p.Arg281Gln) c.*919G>A (n.*919G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.48904885G>A | CA412894471 | SLC35A2 | c.1024C>T (p.Arg342Ter) c.362C>T (p.Pro121Leu) c.434C>T (p.Pro145Leu) c.586C>T c.1108C>T (p.Arg370Ter) c.1063C>T (p.Arg355Ter) c.425-1420C>T c.841C>T (p.Arg281Ter) c.*918C>T (n.*918C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48904885G>C | CA412894475 | SLC35A2 | c.1024C>G (p.Arg342Gly) c.362C>G (p.Pro121Arg) c.434C>G (p.Pro145Arg) c.586C>G c.1108C>G (p.Arg370Gly) c.1063C>G (p.Arg355Gly) c.425-1420C>G c.841C>G (p.Arg281Gly) c.*918C>G (n.*918C>G) | |
| X | g.48904885G= | CA2428428814 | SLC35A2 | c.1024C= (p.Arg342=) c.362C= (p.Pro121=) c.434C= (p.Pro145=) c.586C= c.1108C= (p.Arg370=) c.1063C= (p.Arg355=) c.425-1420C= c.841C= (p.Arg281=) c.*918C= (n.*918C=) | |
| X | g.48904885G>T | CA412894473 | SLC35A2 | c.1024C>A (p.Arg342=) c.362C>A (p.Pro121Gln) c.434C>A (p.Pro145Gln) c.586C>A c.1108C>A (p.Arg370=) c.1063C>A (p.Arg355=) c.425-1420C>A c.841C>A (p.Arg281=) c.*918C>A (n.*918C>A) | |
| X | g.48904886G>A | CA412894476 | SLC35A2 | c.1023C>T (p.Pro341=) c.361C>T (p.Pro121Ser) c.433C>T (p.Pro145Ser) c.585C>T c.1107C>T (p.Pro369=) c.1062C>T (p.Pro354=) c.425-1421C>T c.840C>T (p.Pro280=) c.*917C>T (n.*917C>T) | gnomAD v4 |
| X | g.48904886G>C | CA412894477 | SLC35A2 | c.1023C>G (p.Pro341=) c.361C>G (p.Pro121Ala) c.433C>G (p.Pro145Ala) c.585C>G c.1107C>G (p.Pro369=) c.1062C>G (p.Pro354=) c.425-1421C>G c.840C>G (p.Pro280=) c.*917C>G (n.*917C>G) | |
| X | g.48904886G>T | CA412894479 | SLC35A2 | c.1023C>A (p.Pro341=) c.361C>A (p.Pro121Thr) c.433C>A (p.Pro145Thr) c.585C>A c.1107C>A (p.Pro369=) c.1062C>A (p.Pro354=) c.425-1421C>A c.840C>A (p.Pro280=) c.*917C>A (n.*917C>A) | dbSNP |
| X | g.48904887G>A | CA412894481 | SLC35A2 | c.1022C>T (p.Pro341Leu) c.360C>T (p.Ser120=) c.432C>T (p.Ser144=) c.584C>T c.1106C>T (p.Pro369Leu) c.1061C>T (p.Pro354Leu) c.425-1422C>T c.839C>T (p.Pro280Leu) c.*916C>T (n.*916C>T) | |
| X | g.48904887G>C | CA412894483 | SLC35A2 | c.1022C>G (p.Pro341Arg) c.360C>G (p.Ser120=) c.432C>G (p.Ser144=) c.584C>G c.1106C>G (p.Pro369Arg) c.1061C>G (p.Pro354Arg) c.425-1422C>G c.839C>G (p.Pro280Arg) c.*916C>G (n.*916C>G) | |
| X | g.48904887G>T | CA412894485 | SLC35A2 | c.1022C>A (p.Pro341His) c.360C>A (p.Ser120=) c.432C>A (p.Ser144=) c.584C>A c.1106C>A (p.Pro369His) c.1061C>A (p.Pro354His) c.425-1422C>A c.839C>A (p.Pro280His) c.*916C>A (n.*916C>A) | |
| X | g.48904888G>A | CA412894487 | SLC35A2 | c.1021C>T (p.Pro341Ser) c.359C>T (p.Ser120Phe) c.431C>T (p.Ser144Phe) c.583C>T c.1105C>T (p.Pro369Ser) c.1060C>T (p.Pro354Ser) c.425-1423C>T c.838C>T (p.Pro280Ser) c.*915C>T (n.*915C>T) | ClinVar |
| X | g.48904888G>C | CA10406074 | SLC35A2 | c.1021C>G (p.Pro341Ala) c.359C>G (p.Ser120Cys) c.431C>G (p.Ser144Cys) c.583C>G c.1105C>G (p.Pro369Ala) c.1060C>G (p.Pro354Ala) c.425-1423C>G c.838C>G (p.Pro280Ala) c.*915C>G (n.*915C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48904888G= | CA2428428815 | SLC35A2 | c.1021C= (p.Pro341=) c.359C= (p.Ser120=) c.431C= (p.Ser144=) c.583C= c.1105C= (p.Pro369=) c.1060C= (p.Pro354=) c.425-1423C= c.838C= (p.Pro280=) c.*915C= (n.*915C=) | |
| X | g.48904888G>T | CA412894490 | SLC35A2 | c.1021C>A (p.Pro341Thr) c.359C>A (p.Ser120Tyr) c.431C>A (p.Ser144Tyr) c.583C>A c.1105C>A (p.Pro369Thr) c.1060C>A (p.Pro354Thr) c.425-1423C>A c.838C>A (p.Pro280Thr) c.*915C>A (n.*915C>A) | |
| X | g.48904889A>C | CA412894492 | SLC35A2 | c.1020T>G (p.Leu340=) c.358T>G (p.Ser120Ala) c.430T>G (p.Ser144Ala) c.582T>G c.1104T>G (p.Leu368=) c.1059T>G (p.Leu353=) c.425-1424T>G c.837T>G (p.Leu279=) c.*914T>G (n.*914T>G) | |
| X | g.48904889A>G | CA412894494 | SLC35A2 | c.1020T>C (p.Leu340=) c.358T>C (p.Ser120Pro) c.430T>C (p.Ser144Pro) c.582T>C c.1104T>C (p.Leu368=) c.1059T>C (p.Leu353=) c.425-1424T>C c.837T>C (p.Leu279=) c.*914T>C (n.*914T>C) | |
| X | g.48904889A>T | CA412894496 | SLC35A2 | c.1020T>A (p.Leu340=) c.358T>A (p.Ser120Thr) c.430T>A (p.Ser144Thr) c.582T>A c.1104T>A (p.Leu368=) c.1059T>A (p.Leu353=) c.425-1424T>A c.837T>A (p.Leu279=) c.*914T>A (n.*914T>A) | |
| X | g.48904890A>C | CA412894498 | SLC35A2 | c.1019T>G (p.Leu340Arg) c.357T>G (p.Pro119=) c.429T>G (p.Pro143=) c.581T>G c.1103T>G (p.Leu368Arg) c.1058T>G (p.Leu353Arg) c.425-1425T>G c.836T>G (p.Leu279Arg) c.*913T>G (n.*913T>G) | |
| X | g.48904890A>G | CA412894503 | SLC35A2 | c.1019T>C (p.Leu340Pro) c.357T>C (p.Pro119=) c.429T>C (p.Pro143=) c.581T>C c.1103T>C (p.Leu368Pro) c.1058T>C (p.Leu353Pro) c.425-1425T>C c.836T>C (p.Leu279Pro) c.*913T>C (n.*913T>C) | |
| X | g.48904890A>T | CA412894501 | SLC35A2 | c.1019T>A (p.Leu340His) c.357T>A (p.Pro119=) c.429T>A (p.Pro143=) c.581T>A c.1103T>A (p.Leu368His) c.1058T>A (p.Leu353His) c.425-1425T>A c.836T>A (p.Leu279His) c.*913T>A (n.*913T>A) | |
| X | g.48904891G>A | CA412894504 | SLC35A2 | c.1018C>T (p.Leu340Phe) c.356C>T (p.Pro119Leu) c.428C>T (p.Pro143Leu) c.580C>T c.1102C>T (p.Leu368Phe) c.1057C>T (p.Leu353Phe) c.425-1426C>T c.835C>T (p.Leu279Phe) c.*912C>T (n.*912C>T) | |
| X | g.48904891G>C | CA412894505 | SLC35A2 | c.1018C>G (p.Leu340Val) c.356C>G (p.Pro119Arg) c.428C>G (p.Pro143Arg) c.580C>G c.1102C>G (p.Leu368Val) c.1057C>G (p.Leu353Val) c.425-1426C>G c.835C>G (p.Leu279Val) c.*912C>G (n.*912C>G) | |
| X | g.48904891G>T | CA412894506 | SLC35A2 | c.1018C>A (p.Leu340Ile) c.356C>A (p.Pro119His) c.428C>A (p.Pro143His) c.580C>A c.1102C>A (p.Leu368Ile) c.1057C>A (p.Leu353Ile) c.425-1426C>A c.835C>A (p.Leu279Ile) c.*912C>A (n.*912C>A) | |
| X | g.48904892G>A | CA412894507 | SLC35A2 | c.1017C>T (p.Ser339=) c.355C>T (p.Pro119Ser) c.427C>T (p.Pro143Ser) c.579C>T c.1101C>T (p.Ser367=) c.1056C>T (p.Ser352=) c.425-1427C>T c.834C>T (p.Ser278=) c.*911C>T (n.*911C>T) | |
| X | g.48904892G>C | CA412894508 | SLC35A2 | c.1017C>G (p.Ser339Arg) c.355C>G (p.Pro119Ala) c.427C>G (p.Pro143Ala) c.579C>G c.1101C>G (p.Ser367Arg) c.1056C>G (p.Ser352Arg) c.425-1427C>G c.834C>G (p.Ser278Arg) c.*911C>G (n.*911C>G) | |
| X | g.48904892G>T | CA412894509 | SLC35A2 | c.1017C>A (p.Ser339Arg) c.355C>A (p.Pro119Thr) c.427C>A (p.Pro143Thr) c.579C>A c.1101C>A (p.Ser367Arg) c.1056C>A (p.Ser352Arg) c.425-1427C>A c.834C>A (p.Ser278Arg) c.*911C>A (n.*911C>A) | |
| X | g.48904893C>A | CA412894510 | SLC35A2 | c.1016G>T (p.Ser339Ile) c.355-1G>T (n.355-1G>T) c.427-1G>T (n.427-1G>T) c.578G>T c.1100G>T (p.Ser367Ile) c.1055G>T (p.Ser352Ile) c.425-1428G>T c.833G>T (p.Ser278Ile) c.*910G>T (n.*910G>T) | |
| X | g.48904893C>G | CA412894511 | SLC35A2 | c.1016G>C (p.Ser339Thr) c.355-1G>C (n.355-1G>C) c.427-1G>C (n.427-1G>C) c.578G>C c.1100G>C (p.Ser367Thr) c.1055G>C (p.Ser352Thr) c.425-1428G>C c.833G>C (p.Ser278Thr) c.*910G>C (n.*910G>C) | |
| X | g.48904893C>T | CA412894512 | SLC35A2 | c.1016G>A (p.Ser339Asn) c.355-1G>A (n.355-1G>A) c.427-1G>A (n.427-1G>A) c.578G>A c.1100G>A (p.Ser367Asn) c.1055G>A (p.Ser352Asn) c.425-1428G>A c.833G>A (p.Ser278Asn) c.*910G>A (n.*910G>A) | |
| X | g.48904893_48904894del | CA2579602571 | SLC35A2 | c.1015_1016del (p.Ser339ProfsTer?) c.355-2_355-1del (n.355-2_355-1del) c.427-2_427-1del (n.427-2_427-1del) c.577_578del c.1099_1100del (p.Ser367ProfsTer?) c.1054_1055del (p.Ser352ProfsTer?) c.425-1429_425-1428del c.832_833del (p.Ser278ProfsTer?) c.*909_*910del (n.*909_*910del) | |
| X | g.48904894T>A | CA412894514 | SLC35A2 | c.1015A>T (p.Ser339Cys) c.355-2A>T (n.355-2A>T) c.427-2A>T (n.427-2A>T) c.577A>T c.1099A>T (p.Ser367Cys) c.1054A>T (p.Ser352Cys) c.425-1429A>T c.832A>T (p.Ser278Cys) c.*909A>T (n.*909A>T) | |
| X | g.48904894T>C | CA10406075 | SLC35A2 | c.1015A>G (p.Ser339Gly) c.355-2A>G (n.355-2A>G) c.427-2A>G (n.427-2A>G) c.577A>G c.1099A>G (p.Ser367Gly) c.1054A>G (p.Ser352Gly) c.425-1429A>G c.832A>G (p.Ser278Gly) c.*909A>G (n.*909A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48904894T>G | CA412894513 | SLC35A2 | c.1015A>C (p.Ser339Arg) c.355-2A>C (n.355-2A>C) c.427-2A>C (n.427-2A>C) c.577A>C c.1099A>C (p.Ser367Arg) c.1054A>C (p.Ser352Arg) c.425-1429A>C c.832A>C (p.Ser278Arg) c.*909A>C (n.*909A>C) | |
| X | g.48904894T= | CA2428428816 | SLC35A2 | c.1015A= (p.Ser339=) c.355-2A= (n.355-2A=) c.427-2A= (n.427-2A=) c.577A= c.1099A= (p.Ser367=) c.1054A= (p.Ser352=) c.425-1429A= c.832A= (p.Ser278=) c.*909A= (n.*909A=) | |
| X | g.48904895G>A | CA516359963 | SLC35A2 | c.1014C>T (p.Tyr338=) c.355-3C>T (n.355-3C>T) c.427-3C>T (n.427-3C>T) c.576C>T c.1098C>T (p.Tyr366=) c.1053C>T (p.Tyr351=) c.425-1430C>T c.831C>T (p.Tyr277=) c.*908C>T (n.*908C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48904895G>C | CA412894515 | SLC35A2 | c.1014C>G (p.Tyr338Ter) c.355-3C>G (n.355-3C>G) c.427-3C>G (n.427-3C>G) c.576C>G c.1098C>G (p.Tyr366Ter) c.1053C>G (p.Tyr351Ter) c.425-1430C>G c.831C>G (p.Tyr277Ter) c.*908C>G (n.*908C>G) | |
| X | g.48904895G= | CA2428428817 | SLC35A2 | c.1014C= (p.Tyr338=) c.355-3C= (n.355-3C=) c.427-3C= (n.427-3C=) c.576C= c.1098C= (p.Tyr366=) c.1053C= (p.Tyr351=) c.425-1430C= c.831C= (p.Tyr277=) c.*908C= (n.*908C=) | |
| X | g.48904895G>T | CA412894516 | SLC35A2 | c.1014C>A (p.Tyr338Ter) c.355-3C>A (n.355-3C>A) c.427-3C>A (n.427-3C>A) c.576C>A c.1098C>A (p.Tyr366Ter) c.1053C>A (p.Tyr351Ter) c.425-1430C>A c.831C>A (p.Tyr277Ter) c.*908C>A (n.*908C>A) | |
| X | g.48904896T>A | CA412894517 | SLC35A2 | c.1013A>T (p.Tyr338Phe) c.355-4A>T (n.355-4A>T) c.427-4A>T (n.427-4A>T) c.575A>T c.1097A>T (p.Tyr366Phe) c.1052A>T (p.Tyr351Phe) c.425-1431A>T c.830A>T (p.Tyr277Phe) c.*907A>T (n.*907A>T) | |
| X | g.48904896T>C | CA412894518 | SLC35A2 | c.1013A>G (p.Tyr338Cys) c.355-4A>G (n.355-4A>G) c.427-4A>G (n.427-4A>G) c.575A>G c.1097A>G (p.Tyr366Cys) c.1052A>G (p.Tyr351Cys) c.425-1431A>G c.830A>G (p.Tyr277Cys) c.*907A>G (n.*907A>G) | dbSNP |
| X | g.48904896T>G | CA412894519 | SLC35A2 | c.1013A>C (p.Tyr338Ser) c.355-4A>C (n.355-4A>C) c.427-4A>C (n.427-4A>C) c.575A>C c.1097A>C (p.Tyr366Ser) c.1052A>C (p.Tyr351Ser) c.425-1431A>C c.830A>C (p.Tyr277Ser) c.*907A>C (n.*907A>C) | |
| X | g.48904897A>C | CA412894520 | SLC35A2 | c.1012T>G (p.Tyr338Asp) c.355-5T>G (n.355-5T>G) c.427-5T>G (n.427-5T>G) c.574T>G c.1096T>G (p.Tyr366Asp) c.1051T>G (p.Tyr351Asp) c.425-1432T>G c.829T>G (p.Tyr277Asp) c.*906T>G (n.*906T>G) | |
| X | g.48904897A>G | CA412894521 | SLC35A2 | c.1012T>C (p.Tyr338His) c.355-5T>C (n.355-5T>C) c.427-5T>C (n.427-5T>C) c.574T>C c.1096T>C (p.Tyr366His) c.1051T>C (p.Tyr351His) c.425-1432T>C c.829T>C (p.Tyr277His) c.*906T>C (n.*906T>C) | |
| X | g.48904897A>T | CA412894522 | SLC35A2 | c.1012T>A (p.Tyr338Asn) c.355-5T>A (n.355-5T>A) c.427-5T>A (n.427-5T>A) c.574T>A c.1096T>A (p.Tyr366Asn) c.1051T>A (p.Tyr351Asn) c.425-1432T>A c.829T>A (p.Tyr277Asn) c.*906T>A (n.*906T>A) | |
| X | g.48904898G>A | CA516359964 | SLC35A2 | c.1011C>T (p.Leu337=) c.355-6C>T (n.355-6C>T) c.427-6C>T (n.427-6C>T) c.573C>T c.1095C>T (p.Leu365=) c.1050C>T (p.Leu350=) c.425-1433C>T c.828C>T (p.Leu276=) c.*905C>T (n.*905C>T) | |
| X | g.48904898G>C | CA516359966 | SLC35A2 | c.1011C>G (p.Leu337=) c.355-6C>G (n.355-6C>G) c.427-6C>G (n.427-6C>G) c.573C>G c.1095C>G (p.Leu365=) c.1050C>G (p.Leu350=) c.425-1433C>G c.828C>G (p.Leu276=) c.*905C>G (n.*905C>G) | |
| X | g.48904898G>T | CA516359965 | SLC35A2 | c.1011C>A (p.Leu337=) c.355-6C>A (n.355-6C>A) c.427-6C>A (n.427-6C>A) c.573C>A c.1095C>A (p.Leu365=) c.1050C>A (p.Leu350=) c.425-1433C>A c.828C>A (p.Leu276=) c.*905C>A (n.*905C>A) | |
| X | g.48904899A>C | CA412894523 | SLC35A2 | c.1010T>G (p.Leu337Arg) c.355-7T>G (n.355-7T>G) c.427-7T>G (n.427-7T>G) c.572T>G c.1094T>G (p.Leu365Arg) c.1049T>G (p.Leu350Arg) c.425-1434T>G c.827T>G (p.Leu276Arg) c.*904T>G (n.*904T>G) | |
| X | g.48904899A>G | CA412894524 | SLC35A2 | c.1010T>C (p.Leu337Pro) c.355-7T>C (n.355-7T>C) c.427-7T>C (n.427-7T>C) c.572T>C c.1094T>C (p.Leu365Pro) c.1049T>C (p.Leu350Pro) c.425-1434T>C c.827T>C (p.Leu276Pro) c.*904T>C (n.*904T>C) | |
| X | g.48904899A>T | CA412894525 | SLC35A2 | c.1010T>A (p.Leu337His) c.355-7T>A (n.355-7T>A) c.427-7T>A (n.427-7T>A) c.572T>A c.1094T>A (p.Leu365His) c.1049T>A (p.Leu350His) c.425-1434T>A c.827T>A (p.Leu276His) c.*904T>A (n.*904T>A) | |
| X | g.48904900G>A | CA412894526 | SLC35A2 | c.1009C>T (p.Leu337Phe) c.355-8C>T (n.355-8C>T) c.427-8C>T (n.427-8C>T) c.571C>T c.1093C>T (p.Leu365Phe) c.1048C>T (p.Leu350Phe) c.425-1435C>T c.826C>T (p.Leu276Phe) c.*903C>T (n.*903C>T) | |
| X | g.48904900G>C | CA412894527 | SLC35A2 | c.1009C>G (p.Leu337Val) c.355-8C>G (n.355-8C>G) c.427-8C>G (n.427-8C>G) c.571C>G c.1093C>G (p.Leu365Val) c.1048C>G (p.Leu350Val) c.425-1435C>G c.826C>G (p.Leu276Val) c.*903C>G (n.*903C>G) | |
| X | g.48904900G>T | CA412894528 | SLC35A2 | c.1009C>A (p.Leu337Ile) c.355-8C>A (n.355-8C>A) c.427-8C>A (n.427-8C>A) c.571C>A c.1093C>A (p.Leu365Ile) c.1048C>A (p.Leu350Ile) c.425-1435C>A c.826C>A (p.Leu276Ile) c.*903C>A (n.*903C>A) | |
| X | g.48904901G>A | CA516359970 | SLC35A2 | c.1008C>T (p.Tyr336=) c.355-9C>T (n.355-9C>T) c.427-9C>T (n.427-9C>T) c.570C>T c.1092C>T (p.Tyr364=) c.1047C>T (p.Tyr349=) c.425-1436C>T c.825C>T (p.Tyr275=) c.*902C>T (n.*902C>T) | gnomAD v4 |
| X | g.48904901G>C | CA412894529 | SLC35A2 | c.1008C>G (p.Tyr336Ter) c.355-9C>G (n.355-9C>G) c.427-9C>G (n.427-9C>G) c.570C>G c.1092C>G (p.Tyr364Ter) c.1047C>G (p.Tyr349Ter) c.425-1436C>G c.825C>G (p.Tyr275Ter) c.*902C>G (n.*902C>G) | |
| X | g.48904901G>T | CA412894530 | SLC35A2 | c.1008C>A (p.Tyr336Ter) c.355-9C>A (n.355-9C>A) c.427-9C>A (n.427-9C>A) c.570C>A c.1092C>A (p.Tyr364Ter) c.1047C>A (p.Tyr349Ter) c.425-1436C>A c.825C>A (p.Tyr275Ter) c.*902C>A (n.*902C>A) | |
| X | g.48904902T>A | CA412894531 | SLC35A2 | c.1007A>T (p.Tyr336Phe) c.355-10A>T (n.355-10A>T) c.427-10A>T (n.427-10A>T) c.569A>T c.1091A>T (p.Tyr364Phe) c.1046A>T (p.Tyr349Phe) c.425-1437A>T c.824A>T (p.Tyr275Phe) c.*901A>T (n.*901A>T) | |
| X | g.48904902T>C | CA412894532 | SLC35A2 | c.1007A>G (p.Tyr336Cys) c.355-10A>G (n.355-10A>G) c.427-10A>G (n.427-10A>G) c.569A>G c.1091A>G (p.Tyr364Cys) c.1046A>G (p.Tyr349Cys) c.425-1437A>G c.824A>G (p.Tyr275Cys) c.*901A>G (n.*901A>G) | gnomAD v4 |
| X | g.48904902T>G | CA412894533 | SLC35A2 | c.1007A>C (p.Tyr336Ser) c.355-10A>C (n.355-10A>C) c.427-10A>C (n.427-10A>C) c.569A>C c.1091A>C (p.Tyr364Ser) c.1046A>C (p.Tyr349Ser) c.425-1437A>C c.824A>C (p.Tyr275Ser) c.*901A>C (n.*901A>C) | |
| X | g.48904903A>C | CA412894534 | SLC35A2 | c.1006T>G (p.Tyr336Asp) c.355-11T>G (n.355-11T>G) c.427-11T>G (n.427-11T>G) c.568T>G c.1090T>G (p.Tyr364Asp) c.1045T>G (p.Tyr349Asp) c.425-1438T>G c.823T>G (p.Tyr275Asp) c.*900T>G (n.*900T>G) | |
| X | g.48904903A>G | CA412894535 | SLC35A2 | c.1006T>C (p.Tyr336His) c.355-11T>C (n.355-11T>C) c.427-11T>C (n.427-11T>C) c.568T>C c.1090T>C (p.Tyr364His) c.1045T>C (p.Tyr349His) c.425-1438T>C c.823T>C (p.Tyr275His) c.*900T>C (n.*900T>C) | |
| X | g.48904903A>T | CA412894536 | SLC35A2 | c.1006T>A (p.Tyr336Asn) c.355-11T>A (n.355-11T>A) c.427-11T>A (n.427-11T>A) c.568T>A c.1090T>A (p.Tyr364Asn) c.1045T>A (p.Tyr349Asn) c.425-1438T>A c.823T>A (p.Tyr275Asn) c.*900T>A (n.*900T>A) | |
| X | g.48904904G>A | CA516359972 | SLC35A2 | c.1005C>T (p.Val335=) c.355-12C>T (n.355-12C>T) c.427-12C>T (n.427-12C>T) c.567C>T c.1089C>T (p.Val363=) c.1044C>T (p.Val348=) c.425-1439C>T c.822C>T (p.Val274=) c.*899C>T (n.*899C>T) | |
| X | g.48904904G>C | CA516359973 | SLC35A2 | c.1005C>G (p.Val335=) c.355-12C>G (n.355-12C>G) c.427-12C>G (n.427-12C>G) c.567C>G c.1089C>G (p.Val363=) c.1044C>G (p.Val348=) c.425-1439C>G c.822C>G (p.Val274=) c.*899C>G (n.*899C>G) | |
| X | g.48904904G>T | CA516359974 | SLC35A2 | c.1005C>A (p.Val335=) c.355-12C>A (n.355-12C>A) c.427-12C>A (n.427-12C>A) c.567C>A c.1089C>A (p.Val363=) c.1044C>A (p.Val348=) c.425-1439C>A c.822C>A (p.Val274=) c.*899C>A (n.*899C>A) | |
| X | g.48904905A>C | CA412894537 | SLC35A2 | c.1004T>G (p.Val335Gly) c.355-13T>G (n.355-13T>G) c.427-13T>G (n.427-13T>G) c.566T>G c.1088T>G (p.Val363Gly) c.1043T>G (p.Val348Gly) c.425-1440T>G c.821T>G (p.Val274Gly) c.*898T>G (n.*898T>G) | |
| X | g.48904905A>G | CA412894538 | SLC35A2 | c.1004T>C (p.Val335Ala) c.355-13T>C (n.355-13T>C) c.427-13T>C (n.427-13T>C) c.566T>C c.1088T>C (p.Val363Ala) c.1043T>C (p.Val348Ala) c.425-1440T>C c.821T>C (p.Val274Ala) c.*898T>C (n.*898T>C) | |
| X | g.48904905A>T | CA412894539 | SLC35A2 | c.1004T>A (p.Val335Asp) c.355-13T>A (n.355-13T>A) c.427-13T>A (n.427-13T>A) c.566T>A c.1088T>A (p.Val363Asp) c.1043T>A (p.Val348Asp) c.425-1440T>A c.821T>A (p.Val274Asp) c.*898T>A (n.*898T>A) | COSMIC COSMIC |
| X | g.48904906C>A | CA412894540 | SLC35A2 | c.1003G>T (p.Val335Phe) c.355-14G>T (n.355-14G>T) c.427-14G>T (n.427-14G>T) c.565G>T c.1087G>T (p.Val363Phe) c.1042G>T (p.Val348Phe) c.425-1441G>T c.820G>T (p.Val274Phe) c.*897G>T (n.*897G>T) | |
| X | g.48904906C>G | CA412894541 | SLC35A2 | c.1003G>C (p.Val335Leu) c.355-14G>C (n.355-14G>C) c.427-14G>C (n.427-14G>C) c.565G>C c.1087G>C (p.Val363Leu) c.1042G>C (p.Val348Leu) c.425-1441G>C c.820G>C (p.Val274Leu) c.*897G>C (n.*897G>C) | |
| X | g.48904906C>T | CA412894542 | SLC35A2 | c.1003G>A (p.Val335Ile) c.355-14G>A (n.355-14G>A) c.427-14G>A (n.427-14G>A) c.565G>A c.1087G>A (p.Val363Ile) c.1042G>A (p.Val348Ile) c.425-1441G>A c.820G>A (p.Val274Ile) c.*897G>A (n.*897G>A) | |
| X | g.48904907A>C | CA516359975 | SLC35A2 | c.1002T>G (p.Ala334=) c.355-15T>G (n.355-15T>G) c.427-15T>G (n.427-15T>G) c.564T>G c.1086T>G (p.Ala362=) c.1041T>G (p.Ala347=) c.425-1442T>G c.819T>G (p.Ala273=) c.*896T>G (n.*896T>G) | |
| X | g.48904907A>G | CA516359976 | SLC35A2 | c.1002T>C (p.Ala334=) c.355-15T>C (n.355-15T>C) c.427-15T>C (n.427-15T>C) c.564T>C c.1086T>C (p.Ala362=) c.1041T>C (p.Ala347=) c.425-1442T>C c.819T>C (p.Ala273=) c.*896T>C (n.*896T>C) | |
| X | g.48904907A>T | CA516359978 | SLC35A2 | c.1002T>A (p.Ala334=) c.355-15T>A (n.355-15T>A) c.427-15T>A (n.427-15T>A) c.564T>A c.1086T>A (p.Ala362=) c.1041T>A (p.Ala347=) c.425-1442T>A c.819T>A (p.Ala273=) c.*896T>A (n.*896T>A) | |
| X | g.48904907_48904908dup | CA645604021 | SLC35A2 | c.1001_1002dup (p.Val335LeufsTer15) c.355-16_355-15dup (n.355-16_355-15dup) c.427-16_427-15dup (n.427-16_427-15dup) c.563_564dup c.1085_1086dup (p.Val363LeufsTer15) c.1040_1041dup (p.Val348LeufsTer15) c.425-1443_425-1442dup c.818_819dup (p.Val274LeufsTer15) c.*895_*896dup (n.*895_*896dup) | COSMIC COSMIC |
| X | g.48904908G>A | CA412894545 | SLC35A2 | c.1001C>T (p.Ala334Val) c.355-16C>T (n.355-16C>T) c.427-16C>T (n.427-16C>T) c.563C>T c.1085C>T (p.Ala362Val) c.1040C>T (p.Ala347Val) c.425-1443C>T c.818C>T (p.Ala273Val) c.*895C>T (n.*895C>T) | |
| X | g.48904908G>C | CA412894544 | SLC35A2 | c.1001C>G (p.Ala334Gly) c.355-16C>G (n.355-16C>G) c.427-16C>G (n.427-16C>G) c.563C>G c.1085C>G (p.Ala362Gly) c.1040C>G (p.Ala347Gly) c.425-1443C>G c.818C>G (p.Ala273Gly) c.*895C>G (n.*895C>G) | |
| X | g.48904908G>T | CA412894543 | SLC35A2 | c.1001C>A (p.Ala334Asp) c.355-16C>A (n.355-16C>A) c.427-16C>A (n.427-16C>A) c.563C>A c.1085C>A (p.Ala362Asp) c.1040C>A (p.Ala347Asp) c.425-1443C>A c.818C>A (p.Ala273Asp) c.*895C>A (n.*895C>A) | |
| X | g.48904909C>A | CA412894546 | SLC35A2 | c.1000G>T (p.Ala334Ser) c.355-17G>T (n.355-17G>T) c.427-17G>T (n.427-17G>T) c.562G>T c.1084G>T (p.Ala362Ser) c.1039G>T (p.Ala347Ser) c.425-1444G>T c.817G>T (p.Ala273Ser) c.*894G>T (n.*894G>T) | |
| X | g.48904909C>G | CA412894548 | SLC35A2 | c.1000G>C (p.Ala334Pro) c.355-17G>C (n.355-17G>C) c.427-17G>C (n.427-17G>C) c.562G>C c.1084G>C (p.Ala362Pro) c.1039G>C (p.Ala347Pro) c.425-1444G>C c.817G>C (p.Ala273Pro) c.*894G>C (n.*894G>C) | |
| X | g.48904909C>T | CA412894547 | SLC35A2 | c.1000G>A (p.Ala334Thr) c.355-17G>A (n.355-17G>A) c.427-17G>A (n.427-17G>A) c.562G>A c.1084G>A (p.Ala362Thr) c.1039G>A (p.Ala347Thr) c.425-1444G>A c.817G>A (p.Ala273Thr) c.*894G>A (n.*894G>A) | |
| X | g.48904910A>C | CA516359981 | SLC35A2 | c.999T>G (p.Gly333=) c.355-18T>G (n.355-18T>G) c.427-18T>G (n.427-18T>G) c.561T>G c.1083T>G (p.Gly361=) c.1038T>G (p.Gly346=) c.425-1445T>G c.816T>G (p.Gly272=) c.*893T>G (n.*893T>G) | |
| X | g.48904910A>G | CA516359982 | SLC35A2 | c.999T>C (p.Gly333=) c.355-18T>C (n.355-18T>C) c.427-18T>C (n.427-18T>C) c.561T>C c.1083T>C (p.Gly361=) c.1038T>C (p.Gly346=) c.425-1445T>C c.816T>C (p.Gly272=) c.*893T>C (n.*893T>C) | |
| X | g.48904910A>T | CA516359983 | SLC35A2 | c.999T>A (p.Gly333=) c.355-18T>A (n.355-18T>A) c.427-18T>A (n.427-18T>A) c.561T>A c.1083T>A (p.Gly361=) c.1038T>A (p.Gly346=) c.425-1445T>A c.816T>A (p.Gly272=) c.*893T>A (n.*893T>A) | |
| X | g.48904911C>A | CA412894549 | SLC35A2 | c.998G>T (p.Gly333Val) c.355-19G>T (n.355-19G>T) c.427-19G>T (n.427-19G>T) c.560G>T c.1082G>T (p.Gly361Val) c.1037G>T (p.Gly346Val) c.425-1446G>T c.815G>T (p.Gly272Val) c.*892G>T (n.*892G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48904911C= | CA2428428818 | SLC35A2 | c.998G= (p.Gly333=) c.355-19G= (n.355-19G=) c.427-19G= (n.427-19G=) c.560G= c.1082G= (p.Gly361=) c.1037G= (p.Gly346=) c.425-1446G= c.815G= (p.Gly272=) c.*892G= (n.*892G=) | |
| X | g.48904911C>G | CA412894550 | SLC35A2 | c.998G>C (p.Gly333Ala) c.355-19G>C (n.355-19G>C) c.427-19G>C (n.427-19G>C) c.560G>C c.1082G>C (p.Gly361Ala) c.1037G>C (p.Gly346Ala) c.425-1446G>C c.815G>C (p.Gly272Ala) c.*892G>C (n.*892G>C) | |
| X | g.48904911C>T | CA412894551 | SLC35A2 | c.998G>A (p.Gly333Asp) c.355-19G>A (n.355-19G>A) c.427-19G>A (n.427-19G>A) c.560G>A c.1082G>A (p.Gly361Asp) c.1037G>A (p.Gly346Asp) c.425-1446G>A c.815G>A (p.Gly272Asp) c.*892G>A (n.*892G>A) | ClinVar |
| X | g.48904912C>A | CA412894552 | SLC35A2 | c.997G>T (p.Gly333Cys) c.355-20G>T (n.355-20G>T) c.427-20G>T (n.427-20G>T) c.559G>T c.1081G>T (p.Gly361Cys) c.1036G>T (p.Gly346Cys) c.425-1447G>T c.814G>T (p.Gly272Cys) c.*891G>T (n.*891G>T) | |
| X | g.48904912C>G | CA412894553 | SLC35A2 | c.997G>C (p.Gly333Arg) c.355-20G>C (n.355-20G>C) c.427-20G>C (n.427-20G>C) c.559G>C c.1081G>C (p.Gly361Arg) c.1036G>C (p.Gly346Arg) c.425-1447G>C c.814G>C (p.Gly272Arg) c.*891G>C (n.*891G>C) | |
| X | g.48904912C>T | CA412894554 | SLC35A2 | c.997G>A (p.Gly333Ser) c.355-20G>A (n.355-20G>A) c.427-20G>A (n.427-20G>A) c.559G>A c.1081G>A (p.Gly361Ser) c.1036G>A (p.Gly346Ser) c.425-1447G>A c.814G>A (p.Gly272Ser) c.*891G>A (n.*891G>A) | |
| X | g.48904913A>C | CA412894555 | SLC35A2 | c.996T>G (p.Ile332Met) c.355-21T>G (n.355-21T>G) c.427-21T>G (n.427-21T>G) c.558T>G c.1080T>G (p.Ile360Met) c.1035T>G (p.Ile345Met) c.425-1448T>G c.813T>G (p.Ile271Met) c.*890T>G (n.*890T>G) | |
| X | g.48904913A>G | CA516359836 | SLC35A2 | c.996T>C (p.Ile332=) c.355-21T>C (n.355-21T>C) c.427-21T>C (n.427-21T>C) c.558T>C c.1080T>C (p.Ile360=) c.1035T>C (p.Ile345=) c.425-1448T>C c.813T>C (p.Ile271=) c.*890T>C (n.*890T>C) | |
| X | g.48904913A>T | CA516359837 | SLC35A2 | c.996T>A (p.Ile332=) c.355-21T>A (n.355-21T>A) c.427-21T>A (n.427-21T>A) c.558T>A c.1080T>A (p.Ile360=) c.1035T>A (p.Ile345=) c.425-1448T>A c.813T>A (p.Ile271=) c.*890T>A (n.*890T>A) | |
| X | g.48904914A>C | CA412894556 | SLC35A2 | c.995T>G (p.Ile332Ser) c.355-22T>G (n.355-22T>G) c.427-22T>G (n.427-22T>G) c.557T>G c.1079T>G (p.Ile360Ser) c.1034T>G (p.Ile345Ser) c.425-1449T>G c.812T>G (p.Ile271Ser) c.*889T>G (n.*889T>G) | |
| X | g.48904914A>G | CA412894557 | SLC35A2 | c.995T>C (p.Ile332Thr) c.355-22T>C (n.355-22T>C) c.427-22T>C (n.427-22T>C) c.557T>C c.1079T>C (p.Ile360Thr) c.1034T>C (p.Ile345Thr) c.425-1449T>C c.812T>C (p.Ile271Thr) c.*889T>C (n.*889T>C) | dbSNP |
| X | g.48904914A>T | CA412894558 | SLC35A2 | c.995T>A (p.Ile332Asn) c.355-22T>A (n.355-22T>A) c.427-22T>A (n.427-22T>A) c.557T>A c.1079T>A (p.Ile360Asn) c.1034T>A (p.Ile345Asn) c.425-1449T>A c.812T>A (p.Ile271Asn) c.*889T>A (n.*889T>A) | |
| X | g.48904915T>A | CA412894559 | SLC35A2 | c.994A>T (p.Ile332Phe) c.355-23A>T (n.355-23A>T) c.427-23A>T (n.427-23A>T) c.556A>T c.1078A>T (p.Ile360Phe) c.1033A>T (p.Ile345Phe) c.425-1450A>T c.811A>T (p.Ile271Phe) c.*888A>T (n.*888A>T) | COSMIC |
| X | g.48904915T>C | CA412894560 | SLC35A2 | c.994A>G (p.Ile332Val) c.355-23A>G (n.355-23A>G) c.427-23A>G (n.427-23A>G) c.556A>G c.1078A>G (p.Ile360Val) c.1033A>G (p.Ile345Val) c.425-1450A>G c.811A>G (p.Ile271Val) c.*888A>G (n.*888A>G) | |
| X | g.48904915T>G | CA412894561 | SLC35A2 | c.994A>C (p.Ile332Leu) c.355-23A>C (n.355-23A>C) c.427-23A>C (n.427-23A>C) c.556A>C c.1078A>C (p.Ile360Leu) c.1033A>C (p.Ile345Leu) c.425-1450A>C c.811A>C (p.Ile271Leu) c.*888A>C (n.*888A>C) | |
| X | g.48904915_48904918delinsTGAC | CA2428428819 | SLC35A2 | c.991_994delinsGTCA (p.Val331=) c.355-26_355-23delinsGTCA (n.355-26_355-23delinsGTCA) c.427-26_427-23delinsGTCA (n.427-26_427-23delinsGTCA) c.553_556delinsGTCA c.1075_1078delinsGTCA (p.Val359=) c.1030_1033delinsGTCA (p.Val344=) c.425-1453_425-1450delinsGTCA c.808_811delinsGTCA (p.Val270=) c.*885_*888delinsGTCA (n.*885_*888delinsGTCA) | |
| X | g.48904916G>A | CA516359838 | SLC35A2 | c.993C>T (p.Val331=) c.355-24C>T (n.355-24C>T) c.427-24C>T (n.427-24C>T) c.555C>T c.1077C>T (p.Val359=) c.1032C>T (p.Val344=) c.425-1451C>T c.810C>T (p.Val270=) c.*887C>T (n.*887C>T) | |
| X | g.48904916G>C | CA516359839 | SLC35A2 | c.993C>G (p.Val331=) c.355-24C>G (n.355-24C>G) c.427-24C>G (n.427-24C>G) c.555C>G c.1077C>G (p.Val359=) c.1032C>G (p.Val344=) c.425-1451C>G c.810C>G (p.Val270=) c.*887C>G (n.*887C>G) | |
| X | g.48904916G>T | CA516359840 | SLC35A2 | c.993C>A (p.Val331=) c.355-24C>A (n.355-24C>A) c.427-24C>A (n.427-24C>A) c.555C>A c.1077C>A (p.Val359=) c.1032C>A (p.Val344=) c.425-1451C>A c.810C>A (p.Val270=) c.*887C>A (n.*887C>A) | |
| X | g.48904918_48904920del | CA2428428820 | SLC35A2 | c.991_993del (p.Val331del) c.355-26_355-24del (n.355-26_355-24del) c.427-26_427-24del (n.427-26_427-24del) c.553_555del c.1075_1077del (p.Val359del) c.1030_1032del (p.Val344del) c.425-1453_425-1451del c.808_810del (p.Val270del) c.*885_*887del (n.*885_*887del) | ClinVar dbSNP |
| X | g.48904917A>C | CA412894564 | SLC35A2 | c.992T>G (p.Val331Gly) c.355-25T>G (n.355-25T>G) c.427-25T>G (n.427-25T>G) c.554T>G c.1076T>G (p.Val359Gly) c.1031T>G (p.Val344Gly) c.425-1452T>G c.809T>G (p.Val270Gly) c.*886T>G (n.*886T>G) | |
| X | g.48904917A>G | CA412894563 | SLC35A2 | c.992T>C (p.Val331Ala) c.355-25T>C (n.355-25T>C) c.427-25T>C (n.427-25T>C) c.554T>C c.1076T>C (p.Val359Ala) c.1031T>C (p.Val344Ala) c.425-1452T>C c.809T>C (p.Val270Ala) c.*886T>C (n.*886T>C) | |
| X | g.48904917A>T | CA412894562 | SLC35A2 | c.992T>A (p.Val331Asp) c.355-25T>A (n.355-25T>A) c.427-25T>A (n.427-25T>A) c.554T>A c.1076T>A (p.Val359Asp) c.1031T>A (p.Val344Asp) c.425-1452T>A c.809T>A (p.Val270Asp) c.*886T>A (n.*886T>A) | |
| X | g.48904918C>A | CA412894565 | SLC35A2 | c.991G>T (p.Val331Phe) c.355-26G>T (n.355-26G>T) c.427-26G>T (n.427-26G>T) c.553G>T c.1075G>T (p.Val359Phe) c.1030G>T (p.Val344Phe) c.425-1453G>T c.808G>T (p.Val270Phe) c.*885G>T (n.*885G>T) | |
| X | g.48904918C= | CA2428428821 | SLC35A2 | c.991G= (p.Val331=) c.355-26G= (n.355-26G=) c.427-26G= (n.427-26G=) c.553G= c.1075G= (p.Val359=) c.1030G= (p.Val344=) c.425-1453G= c.808G= (p.Val270=) c.*885G= (n.*885G=) | |
| X | g.48904918C>G | CA412894566 | SLC35A2 | c.991G>C (p.Val331Leu) c.355-26G>C (n.355-26G>C) c.427-26G>C (n.427-26G>C) c.553G>C c.1075G>C (p.Val359Leu) c.1030G>C (p.Val344Leu) c.425-1453G>C c.808G>C (p.Val270Leu) c.*885G>C (n.*885G>C) | |
| X | g.48904918C>T | CA143742 | SLC35A2 | c.991G>A (p.Val331Ile) c.355-26G>A (n.355-26G>A) c.427-26G>A (n.427-26G>A) c.553G>A c.1075G>A (p.Val359Ile) c.1030G>A (p.Val344Ile) c.425-1453G>A c.808G>A (p.Val270Ile) c.*885G>A (n.*885G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48904919G>A | CA10406076 | SLC35A2 | c.990C>T (p.Leu330=) c.355-27C>T (n.355-27C>T) c.427-27C>T (n.427-27C>T) c.552C>T c.1074C>T (p.Leu358=) c.1029C>T (p.Leu343=) c.425-1454C>T c.807C>T (p.Leu269=) c.*884C>T (n.*884C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48904919G>C | CA516359842 | SLC35A2 | c.990C>G (p.Leu330=) c.355-27C>G (n.355-27C>G) c.427-27C>G (n.427-27C>G) c.552C>G c.1074C>G (p.Leu358=) c.1029C>G (p.Leu343=) c.425-1454C>G c.807C>G (p.Leu269=) c.*884C>G (n.*884C>G) | |
| X | g.48904919G= | CA2428428822 | SLC35A2 | c.990C= (p.Leu330=) c.355-27C= (n.355-27C=) c.427-27C= (n.427-27C=) c.552C= c.1074C= (p.Leu358=) c.1029C= (p.Leu343=) c.425-1454C= c.807C= (p.Leu269=) c.*884C= (n.*884C=) | |
| X | g.48904919G>T | CA516359841 | SLC35A2 | c.990C>A (p.Leu330=) c.355-27C>A (n.355-27C>A) c.427-27C>A (n.427-27C>A) c.552C>A c.1074C>A (p.Leu358=) c.1029C>A (p.Leu343=) c.425-1454C>A c.807C>A (p.Leu269=) c.*884C>A (n.*884C>A) | |
| X | g.48904920A= | CA2428428823 | SLC35A2 | c.989T= (p.Leu330=) c.355-28T= (n.355-28T=) c.427-28T= (n.427-28T=) c.551T= c.1073T= (p.Leu358=) c.1028T= (p.Leu343=) c.425-1455T= c.806T= (p.Leu269=) c.*883T= (n.*883T=) | |
| X | g.48904920A>C | CA412894567 | SLC35A2 | c.989T>G (p.Leu330Arg) c.355-28T>G (n.355-28T>G) c.427-28T>G (n.427-28T>G) c.551T>G c.1073T>G (p.Leu358Arg) c.1028T>G (p.Leu343Arg) c.425-1455T>G c.806T>G (p.Leu269Arg) c.*883T>G (n.*883T>G) | |
| X | g.48904920A>G | CA412894568 | SLC35A2 | c.989T>C (p.Leu330Pro) c.355-28T>C (n.355-28T>C) c.427-28T>C (n.427-28T>C) c.551T>C c.1073T>C (p.Leu358Pro) c.1028T>C (p.Leu343Pro) c.425-1455T>C c.806T>C (p.Leu269Pro) c.*883T>C (n.*883T>C) | ClinVar dbSNP |
| X | g.48904920A>T | CA412894569 | SLC35A2 | c.989T>A (p.Leu330His) c.355-28T>A (n.355-28T>A) c.427-28T>A (n.427-28T>A) c.551T>A c.1073T>A (p.Leu358His) c.1028T>A (p.Leu343His) c.425-1455T>A c.806T>A (p.Leu269His) c.*883T>A (n.*883T>A) | gnomAD v4 |
| X | g.48904921G>A | CA412894570 | SLC35A2 | c.988C>T (p.Leu330Phe) c.355-29C>T (n.355-29C>T) c.427-29C>T (n.427-29C>T) c.550C>T c.1072C>T (p.Leu358Phe) c.1027C>T (p.Leu343Phe) c.425-1456C>T c.805C>T (p.Leu269Phe) c.*882C>T (n.*882C>T) | |
| X | g.48904921G>C | CA412894571 | SLC35A2 | c.988C>G (p.Leu330Val) c.355-29C>G (n.355-29C>G) c.427-29C>G (n.427-29C>G) c.550C>G c.1072C>G (p.Leu358Val) c.1027C>G (p.Leu343Val) c.425-1456C>G c.805C>G (p.Leu269Val) c.*882C>G (n.*882C>G) | |
| X | g.48904921G>T | CA412894572 | SLC35A2 | c.988C>A (p.Leu330Ile) c.355-29C>A (n.355-29C>A) c.427-29C>A (n.427-29C>A) c.550C>A c.1072C>A (p.Leu358Ile) c.1027C>A (p.Leu343Ile) c.425-1456C>A c.805C>A (p.Leu269Ile) c.*882C>A (n.*882C>A) | |
| X | g.48904922T>A | CA516359845 | SLC35A2 | c.987A>T (p.Gly329=) c.355-30A>T (n.355-30A>T) c.427-30A>T (n.427-30A>T) c.549A>T c.1071A>T (p.Gly357=) c.1026A>T (p.Gly342=) c.425-1457A>T c.804A>T (p.Gly268=) c.*881A>T (n.*881A>T) | |
| X | g.48904922T>C | CA516359844 | SLC35A2 | c.987A>G (p.Gly329=) c.355-30A>G (n.355-30A>G) c.427-30A>G (n.427-30A>G) c.549A>G c.1071A>G (p.Gly357=) c.1026A>G (p.Gly342=) c.425-1457A>G c.804A>G (p.Gly268=) c.*881A>G (n.*881A>G) | |
| X | g.48904922T>G | CA516359843 | SLC35A2 | c.987A>C (p.Gly329=) c.355-30A>C (n.355-30A>C) c.427-30A>C (n.427-30A>C) c.549A>C c.1071A>C (p.Gly357=) c.1026A>C (p.Gly342=) c.425-1457A>C c.804A>C (p.Gly268=) c.*881A>C (n.*881A>C) | |
| X | g.48904923C>A | CA412894573 | SLC35A2 | c.986G>T (p.Gly329Val) c.355-31G>T (n.355-31G>T) c.427-31G>T (n.427-31G>T) c.548G>T c.1070G>T (p.Gly357Val) c.1025G>T (p.Gly342Val) c.425-1458G>T c.803G>T (p.Gly268Val) c.*880G>T (n.*880G>T) | |
| X | g.48904923C>G | CA412894574 | SLC35A2 | c.986G>C (p.Gly329Ala) c.355-31G>C (n.355-31G>C) c.427-31G>C (n.427-31G>C) c.548G>C c.1070G>C (p.Gly357Ala) c.1025G>C (p.Gly342Ala) c.425-1458G>C c.803G>C (p.Gly268Ala) c.*880G>C (n.*880G>C) | |
| X | g.48904923C>T | CA412894575 | SLC35A2 | c.986G>A (p.Gly329Glu) c.355-31G>A (n.355-31G>A) c.427-31G>A (n.427-31G>A) c.548G>A c.1070G>A (p.Gly357Glu) c.1025G>A (p.Gly342Glu) c.425-1458G>A c.803G>A (p.Gly268Glu) c.*880G>A (n.*880G>A) | |
| X | g.48904924C>A | CA412894577 | SLC35A2 | c.985G>T (p.Gly329Ter) c.355-32G>T (n.355-32G>T) c.427-32G>T (n.427-32G>T) c.547G>T c.1069G>T (p.Gly357Ter) c.1024G>T (p.Gly342Ter) c.425-1459G>T c.802G>T (p.Gly268Ter) c.*879G>T (n.*879G>T) | |
| X | g.48904924C>G | CA412894578 | SLC35A2 | c.985G>C (p.Gly329Arg) c.355-32G>C (n.355-32G>C) c.427-32G>C (n.427-32G>C) c.547G>C c.1069G>C (p.Gly357Arg) c.1024G>C (p.Gly342Arg) c.425-1459G>C c.802G>C (p.Gly268Arg) c.*879G>C (n.*879G>C) | |
| X | g.48904924C>T | CA412894576 | SLC35A2 | c.985G>A (p.Gly329Arg) c.355-32G>A (n.355-32G>A) c.427-32G>A (n.427-32G>A) c.547G>A c.1069G>A (p.Gly357Arg) c.1024G>A (p.Gly342Arg) c.425-1459G>A c.802G>A (p.Gly268Arg) c.*879G>A (n.*879G>A) | |
| X | g.48904925A>C | CA516359846 | SLC35A2 | c.984T>G (p.Ala328=) c.355-33T>G (n.355-33T>G) c.427-33T>G (n.427-33T>G) c.546T>G c.1068T>G (p.Ala356=) c.1023T>G (p.Ala341=) c.425-1460T>G c.801T>G (p.Ala267=) c.*878T>G (n.*878T>G) | |
| X | g.48904925A>G | CA516359848 | SLC35A2 | c.984T>C (p.Ala328=) c.355-33T>C (n.355-33T>C) c.427-33T>C (n.427-33T>C) c.546T>C c.1068T>C (p.Ala356=) c.1023T>C (p.Ala341=) c.425-1460T>C c.801T>C (p.Ala267=) c.*878T>C (n.*878T>C) | |
| X | g.48904925A>T | CA516359847 | SLC35A2 | c.984T>A (p.Ala328=) c.355-33T>A (n.355-33T>A) c.427-33T>A (n.427-33T>A) c.546T>A c.1068T>A (p.Ala356=) c.1023T>A (p.Ala341=) c.425-1460T>A c.801T>A (p.Ala267=) c.*878T>A (n.*878T>A) | |
| X | g.48904926G>A | CA412894579 | SLC35A2 | c.983C>T (p.Ala328Val) c.355-34C>T (n.355-34C>T) c.427-34C>T (n.427-34C>T) c.545C>T c.1067C>T (p.Ala356Val) c.1022C>T (p.Ala341Val) c.425-1461C>T c.800C>T (p.Ala267Val) c.*877C>T (n.*877C>T) | gnomAD v4 |
| X | g.48904926G>C | CA412894580 | SLC35A2 | c.983C>G (p.Ala328Gly) c.355-34C>G (n.355-34C>G) c.427-34C>G (n.427-34C>G) c.545C>G c.1067C>G (p.Ala356Gly) c.1022C>G (p.Ala341Gly) c.425-1461C>G c.800C>G (p.Ala267Gly) c.*877C>G (n.*877C>G) | |
| X | g.48904926G>T | CA412894581 | SLC35A2 | c.983C>A (p.Ala328Asp) c.355-34C>A (n.355-34C>A) c.427-34C>A (n.427-34C>A) c.545C>A c.1067C>A (p.Ala356Asp) c.1022C>A (p.Ala341Asp) c.425-1461C>A c.800C>A (p.Ala267Asp) c.*877C>A (n.*877C>A) | |
| X | g.48904927C>A | CA412894582 | SLC35A2 | c.982G>T (p.Ala328Ser) c.355-35G>T (n.355-35G>T) c.427-35G>T (n.427-35G>T) c.544G>T c.1066G>T (p.Ala356Ser) c.1021G>T (p.Ala341Ser) c.425-1462G>T c.799G>T (p.Ala267Ser) c.*876G>T (n.*876G>T) | |
| X | g.48904927C= | CA2428428824 | SLC35A2 | c.982G= (p.Ala328=) c.355-35G= (n.355-35G=) c.427-35G= (n.427-35G=) c.544G= c.1066G= (p.Ala356=) c.1021G= (p.Ala341=) c.425-1462G= c.799G= (p.Ala267=) c.*876G= (n.*876G=) | |
| X | g.48904927C>G | CA412894583 | SLC35A2 | c.982G>C (p.Ala328Pro) c.355-35G>C (n.355-35G>C) c.427-35G>C (n.427-35G>C) c.544G>C c.1066G>C (p.Ala356Pro) c.1021G>C (p.Ala341Pro) c.425-1462G>C c.799G>C (p.Ala267Pro) c.*876G>C (n.*876G>C) | |
| X | g.48904927C>T | CA10406077 | SLC35A2 | c.982G>A (p.Ala328Thr) c.355-35G>A (n.355-35G>A) c.427-35G>A (n.427-35G>A) c.544G>A c.1066G>A (p.Ala356Thr) c.1021G>A (p.Ala341Thr) c.425-1462G>A c.799G>A (p.Ala267Thr) c.*876G>A (n.*876G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.48904928G>A | CA10406078 | SLC35A2 | c.981C>T (p.Gly327=) c.355-36C>T (n.355-36C>T) c.427-36C>T (n.427-36C>T) c.543C>T c.1065C>T (p.Gly355=) c.1020C>T (p.Gly340=) c.425-1463C>T c.798C>T (p.Gly266=) c.*875C>T (n.*875C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904928G>C | CA516359849 | SLC35A2 | c.981C>G (p.Gly327=) c.355-36C>G (n.355-36C>G) c.427-36C>G (n.427-36C>G) c.543C>G c.1065C>G (p.Gly355=) c.1020C>G (p.Gly340=) c.425-1463C>G c.798C>G (p.Gly266=) c.*875C>G (n.*875C>G) | |
| X | g.48904928G= | CA2428428825 | SLC35A2 | c.981C= (p.Gly327=) c.355-36C= (n.355-36C=) c.427-36C= (n.427-36C=) c.543C= c.1065C= (p.Gly355=) c.1020C= (p.Gly340=) c.425-1463C= c.798C= (p.Gly266=) c.*875C= (n.*875C=) | |
| X | g.48904928G>T | CA516359850 | SLC35A2 | c.981C>A (p.Gly327=) c.355-36C>A (n.355-36C>A) c.427-36C>A (n.427-36C>A) c.543C>A c.1065C>A (p.Gly355=) c.1020C>A (p.Gly340=) c.425-1463C>A c.798C>A (p.Gly266=) c.*875C>A (n.*875C>A) | |
| X | g.48904929C>A | CA412894584 | SLC35A2 | c.980G>T (p.Gly327Val) c.355-37G>T (n.355-37G>T) c.427-37G>T (n.427-37G>T) c.542G>T c.1064G>T (p.Gly355Val) c.1019G>T (p.Gly340Val) c.425-1464G>T c.797G>T (p.Gly266Val) c.*874G>T (n.*874G>T) | |
| X | g.48904929C>G | CA412894585 | SLC35A2 | c.980G>C (p.Gly327Ala) c.355-37G>C (n.355-37G>C) c.427-37G>C (n.427-37G>C) c.542G>C c.1064G>C (p.Gly355Ala) c.1019G>C (p.Gly340Ala) c.425-1464G>C c.797G>C (p.Gly266Ala) c.*874G>C (n.*874G>C) | |
| X | g.48904929C>T | CA412894586 | SLC35A2 | c.980G>A (p.Gly327Asp) c.355-37G>A (n.355-37G>A) c.427-37G>A (n.427-37G>A) c.542G>A c.1064G>A (p.Gly355Asp) c.1019G>A (p.Gly340Asp) c.425-1464G>A c.797G>A (p.Gly266Asp) c.*874G>A (n.*874G>A) | |
| X | g.48904930C>A | CA412894587 | SLC35A2 | c.979G>T (p.Gly327Cys) c.355-38G>T (n.355-38G>T) c.427-38G>T (n.427-38G>T) c.541G>T c.1063G>T (p.Gly355Cys) c.1018G>T (p.Gly340Cys) c.424+1462G>T c.796G>T (p.Gly266Cys) c.*873G>T (n.*873G>T) | |
| X | g.48904930C>G | CA412894588 | SLC35A2 | c.979G>C (p.Gly327Arg) c.355-38G>C (n.355-38G>C) c.427-38G>C (n.427-38G>C) c.541G>C c.1063G>C (p.Gly355Arg) c.1018G>C (p.Gly340Arg) c.424+1462G>C c.796G>C (p.Gly266Arg) c.*873G>C (n.*873G>C) | |
| X | g.48904930C>T | CA412894589 | SLC35A2 | c.979G>A (p.Gly327Ser) c.355-38G>A (n.355-38G>A) c.427-38G>A (n.427-38G>A) c.541G>A c.1063G>A (p.Gly355Ser) c.1018G>A (p.Gly340Ser) c.424+1462G>A c.796G>A (p.Gly266Ser) c.*873G>A (n.*873G>A) | gnomAD v4 |
| X | g.48904931A= | CA2428428826 | SLC35A2 | c.978T= (p.Leu326=) c.355-39T= (n.355-39T=) c.427-39T= (n.427-39T=) c.540T= c.1062T= (p.Leu354=) c.1017T= (p.Leu339=) c.424+1461T= c.795T= (p.Leu265=) c.*872T= (n.*872T=) | |
| X | g.48904931A>C | CA516359851 | SLC35A2 | c.978T>G (p.Leu326=) c.355-39T>G (n.355-39T>G) c.427-39T>G (n.427-39T>G) c.540T>G c.1062T>G (p.Leu354=) c.1017T>G (p.Leu339=) c.424+1461T>G c.795T>G (p.Leu265=) c.*872T>G (n.*872T>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48904931A>G | CA516359852 | SLC35A2 | c.978T>C (p.Leu326=) c.355-39T>C (n.355-39T>C) c.427-39T>C (n.427-39T>C) c.540T>C c.1062T>C (p.Leu354=) c.1017T>C (p.Leu339=) c.424+1461T>C c.795T>C (p.Leu265=) c.*872T>C (n.*872T>C) | |
| X | g.48904931A>T | CA516359853 | SLC35A2 | c.978T>A (p.Leu326=) c.355-39T>A (n.355-39T>A) c.427-39T>A (n.427-39T>A) c.540T>A c.1062T>A (p.Leu354=) c.1017T>A (p.Leu339=) c.424+1461T>A c.795T>A (p.Leu265=) c.*872T>A (n.*872T>A) | |
| X | g.48904932A>C | CA412894590 | SLC35A2 | c.977T>G (p.Leu326Arg) c.355-40T>G (n.355-40T>G) c.427-40T>G (n.427-40T>G) c.539T>G c.1061T>G (p.Leu354Arg) c.1016T>G (p.Leu339Arg) c.424+1460T>G c.794T>G (p.Leu265Arg) c.*871T>G (n.*871T>G) | |
| X | g.48904932A>G | CA412894592 | SLC35A2 | c.977T>C (p.Leu326Pro) c.355-40T>C (n.355-40T>C) c.427-40T>C (n.427-40T>C) c.539T>C c.1061T>C (p.Leu354Pro) c.1016T>C (p.Leu339Pro) c.424+1460T>C c.794T>C (p.Leu265Pro) c.*871T>C (n.*871T>C) | |
| X | g.48904932A>T | CA412894591 | SLC35A2 | c.977T>A (p.Leu326His) c.355-40T>A (n.355-40T>A) c.427-40T>A (n.427-40T>A) c.539T>A c.1061T>A (p.Leu354His) c.1016T>A (p.Leu339His) c.424+1460T>A c.794T>A (p.Leu265His) c.*871T>A (n.*871T>A) | |
| X | g.48904933G>A | CA412894593 | SLC35A2 | c.976C>T (p.Leu326Phe) c.355-41C>T (n.355-41C>T) c.427-41C>T (n.427-41C>T) c.538C>T c.1060C>T (p.Leu354Phe) c.1015C>T (p.Leu339Phe) c.424+1459C>T c.793C>T (p.Leu265Phe) c.*870C>T (n.*870C>T) | gnomAD v4 |
| X | g.48904933G>C | CA412894594 | SLC35A2 | c.976C>G (p.Leu326Val) c.355-41C>G (n.355-41C>G) c.427-41C>G (n.427-41C>G) c.538C>G c.1060C>G (p.Leu354Val) c.1015C>G (p.Leu339Val) c.424+1459C>G c.793C>G (p.Leu265Val) c.*870C>G (n.*870C>G) | |
| X | g.48904933G>T | CA412894595 | SLC35A2 | c.976C>A (p.Leu326Ile) c.355-41C>A (n.355-41C>A) c.427-41C>A (n.427-41C>A) c.538C>A c.1060C>A (p.Leu354Ile) c.1015C>A (p.Leu339Ile) c.424+1459C>A c.793C>A (p.Leu265Ile) c.*870C>A (n.*870C>A) | gnomAD v4 |
| X | g.48904934G>A | CA516359854 | SLC35A2 | c.975C>T (p.Ala325=) c.355-42C>T (n.355-42C>T) c.427-42C>T (n.427-42C>T) c.537C>T c.1059C>T (p.Ala353=) c.1014C>T (p.Ala338=) c.424+1458C>T c.792C>T (p.Ala264=) c.*869C>T (n.*869C>T) | COSMIC |
| X | g.48904934G>C | CA516359855 | SLC35A2 | c.975C>G (p.Ala325=) c.355-42C>G (n.355-42C>G) c.427-42C>G (n.427-42C>G) c.537C>G c.1059C>G (p.Ala353=) c.1014C>G (p.Ala338=) c.424+1458C>G c.792C>G (p.Ala264=) c.*869C>G (n.*869C>G) | |
| X | g.48904934G>T | CA516359856 | SLC35A2 | c.975C>A (p.Ala325=) c.355-42C>A (n.355-42C>A) c.427-42C>A (n.427-42C>A) c.537C>A c.1059C>A (p.Ala353=) c.1014C>A (p.Ala338=) c.424+1458C>A c.792C>A (p.Ala264=) c.*869C>A (n.*869C>A) | |
| X | g.48904935G>A | CA412894596 | SLC35A2 | c.974C>T (p.Ala325Val) c.355-43C>T (n.355-43C>T) c.427-43C>T (n.427-43C>T) c.536C>T c.1058C>T (p.Ala353Val) c.1013C>T (p.Ala338Val) c.424+1457C>T c.791C>T (p.Ala264Val) c.*868C>T (n.*868C>T) | gnomAD v4 |
| X | g.48904935G>C | CA412894597 | SLC35A2 | c.974C>G (p.Ala325Gly) c.355-43C>G (n.355-43C>G) c.427-43C>G (n.427-43C>G) c.536C>G c.1058C>G (p.Ala353Gly) c.1013C>G (p.Ala338Gly) c.424+1457C>G c.791C>G (p.Ala264Gly) c.*868C>G (n.*868C>G) | |
| X | g.48904935G>T | CA412894598 | SLC35A2 | c.974C>A (p.Ala325Asp) c.355-43C>A (n.355-43C>A) c.427-43C>A (n.427-43C>A) c.536C>A c.1058C>A (p.Ala353Asp) c.1013C>A (p.Ala338Asp) c.424+1457C>A c.791C>A (p.Ala264Asp) c.*868C>A (n.*868C>A) | |
| X | g.48904936C>A | CA412894599 | SLC35A2 | c.973G>T (p.Ala325Ser) c.355-44G>T (n.355-44G>T) c.427-44G>T (n.427-44G>T) c.535G>T c.1057G>T (p.Ala353Ser) c.1012G>T (p.Ala338Ser) c.424+1456G>T c.790G>T (p.Ala264Ser) c.*867G>T (n.*867G>T) | |
| X | g.48904936C>G | CA412894600 | SLC35A2 | c.973G>C (p.Ala325Pro) c.355-44G>C (n.355-44G>C) c.427-44G>C (n.427-44G>C) c.535G>C c.1057G>C (p.Ala353Pro) c.1012G>C (p.Ala338Pro) c.424+1456G>C c.790G>C (p.Ala264Pro) c.*867G>C (n.*867G>C) | |
| X | g.48904936C>T | CA412894601 | SLC35A2 | c.973G>A (p.Ala325Thr) c.355-44G>A (n.355-44G>A) c.427-44G>A (n.427-44G>A) c.535G>A c.1057G>A (p.Ala353Thr) c.1012G>A (p.Ala338Thr) c.424+1456G>A c.790G>A (p.Ala264Thr) c.*867G>A (n.*867G>A) | |
| X | g.48904936_48904937delinsCA | CA2428428827 | SLC35A2 | c.972_973delinsTG (p.Phe324=) c.355-45_355-44delinsTG (n.355-45_355-44delinsTG) c.427-45_427-44delinsTG (n.427-45_427-44delinsTG) c.534_535delinsTG c.1056_1057delinsTG (p.Phe352=) c.1011_1012delinsTG (p.Phe337=) c.424+1455_424+1456delinsTG c.789_790delinsTG (p.Phe263=) c.*866_*867delinsTG (n.*866_*867delinsTG) | |
| X | g.48904937A>C | CA412894603 | SLC35A2 | c.972T>G (p.Phe324Leu) c.355-45T>G (n.355-45T>G) c.427-45T>G (n.427-45T>G) c.534T>G c.1056T>G (p.Phe352Leu) c.1011T>G (p.Phe337Leu) c.424+1455T>G c.789T>G (p.Phe263Leu) c.*866T>G (n.*866T>G) | |
| X | g.48904937A>G | CA516359857 | SLC35A2 | c.972T>C (p.Phe324=) c.355-45T>C (n.355-45T>C) c.427-45T>C (n.427-45T>C) c.534T>C c.1056T>C (p.Phe352=) c.1011T>C (p.Phe337=) c.424+1455T>C c.789T>C (p.Phe263=) c.*866T>C (n.*866T>C) | |
| X | g.48904937A>T | CA412894602 | SLC35A2 | c.972T>A (p.Phe324Leu) c.355-45T>A (n.355-45T>A) c.427-45T>A (n.427-45T>A) c.534T>A c.1056T>A (p.Phe352Leu) c.1011T>A (p.Phe337Leu) c.424+1455T>A c.789T>A (p.Phe263Leu) c.*866T>A (n.*866T>A) | |
| X | g.48904939del | CA163126 | SLC35A2 | c.972del (p.Phe324LeufsTer25) c.355-45del (n.355-45del) c.427-45del (n.427-45del) c.534del c.1056del (p.Phe352LeufsTer25) c.1011del (p.Phe337LeufsTer25) c.424+1455del c.789del (p.Phe263LeufsTer25) c.*866del (n.*866del) | ClinVar dbSNP |
| X | g.48904938A>C | CA412894604 | SLC35A2 | c.971T>G (p.Phe324Cys) c.355-46T>G (n.355-46T>G) c.427-46T>G (n.427-46T>G) c.533T>G c.1055T>G (p.Phe352Cys) c.1010T>G (p.Phe337Cys) c.424+1454T>G c.788T>G (p.Phe263Cys) c.*865T>G (n.*865T>G) | |
| X | g.48904938A>G | CA412894606 | SLC35A2 | c.971T>C (p.Phe324Ser) c.355-46T>C (n.355-46T>C) c.427-46T>C (n.427-46T>C) c.533T>C c.1055T>C (p.Phe352Ser) c.1010T>C (p.Phe337Ser) c.424+1454T>C c.788T>C (p.Phe263Ser) c.*865T>C (n.*865T>C) | |
| X | g.48904938A>T | CA412894605 | SLC35A2 | c.971T>A (p.Phe324Tyr) c.355-46T>A (n.355-46T>A) c.427-46T>A (n.427-46T>A) c.533T>A c.1055T>A (p.Phe352Tyr) c.1010T>A (p.Phe337Tyr) c.424+1454T>A c.788T>A (p.Phe263Tyr) c.*865T>A (n.*865T>A) | |
| X | g.48904939A>C | CA412894608 | SLC35A2 | c.970T>G (p.Phe324Val) c.355-47T>G (n.355-47T>G) c.427-47T>G (n.427-47T>G) c.532T>G c.1054T>G (p.Phe352Val) c.1009T>G (p.Phe337Val) c.424+1453T>G c.787T>G (p.Phe263Val) c.*864T>G (n.*864T>G) | |
| X | g.48904939A>G | CA412894609 | SLC35A2 | c.970T>C (p.Phe324Leu) c.355-47T>C (n.355-47T>C) c.427-47T>C (n.427-47T>C) c.532T>C c.1054T>C (p.Phe352Leu) c.1009T>C (p.Phe337Leu) c.424+1453T>C c.787T>C (p.Phe263Leu) c.*864T>C (n.*864T>C) | |
| X | g.48904939A>T | CA412894610 | SLC35A2 | c.970T>A (p.Phe324Ile) c.355-47T>A (n.355-47T>A) c.427-47T>A (n.427-47T>A) c.532T>A c.1054T>A (p.Phe352Ile) c.1009T>A (p.Phe337Ile) c.424+1453T>A c.787T>A (p.Phe263Ile) c.*864T>A (n.*864T>A) | |
| X | g.48904940T>A | CA412894611 | SLC35A2 | c.969A>T (p.Leu323Phe) c.355-48A>T (n.355-48A>T) c.427-48A>T (n.427-48A>T) c.531A>T c.1053A>T (p.Leu351Phe) c.1008A>T (p.Leu336Phe) c.424+1452A>T c.786A>T (p.Leu262Phe) c.*863A>T (n.*863A>T) | |
| X | g.48904940T>C | CA516359858 | SLC35A2 | c.969A>G (p.Leu323=) c.355-48A>G (n.355-48A>G) c.427-48A>G (n.427-48A>G) c.531A>G c.1053A>G (p.Leu351=) c.1008A>G (p.Leu336=) c.424+1452A>G c.786A>G (p.Leu262=) c.*863A>G (n.*863A>G) | |
| X | g.48904940T>G | CA412894612 | SLC35A2 | c.969A>C (p.Leu323Phe) c.355-48A>C (n.355-48A>C) c.427-48A>C (n.427-48A>C) c.531A>C c.1053A>C (p.Leu351Phe) c.1008A>C (p.Leu336Phe) c.424+1452A>C c.786A>C (p.Leu262Phe) c.*863A>C (n.*863A>C) | |
| X | g.48904941A>C | CA412894613 | SLC35A2 | c.968T>G (p.Leu323Ter) c.355-49T>G (n.355-49T>G) c.427-49T>G (n.427-49T>G) c.530T>G c.1052T>G (p.Leu351Ter) c.1007T>G (p.Leu336Ter) c.424+1451T>G c.785T>G (p.Leu262Ter) c.*862T>G (n.*862T>G) | |
| X | g.48904941A>G | CA412894614 | SLC35A2 | c.968T>C (p.Leu323Ser) c.355-49T>C (n.355-49T>C) c.427-49T>C (n.427-49T>C) c.530T>C c.1052T>C (p.Leu351Ser) c.1007T>C (p.Leu336Ser) c.424+1451T>C c.785T>C (p.Leu262Ser) c.*862T>C (n.*862T>C) | |
| X | g.48904941A>T | CA412894615 | SLC35A2 | c.968T>A (p.Leu323Ter) c.355-49T>A (n.355-49T>A) c.427-49T>A (n.427-49T>A) c.530T>A c.1052T>A (p.Leu351Ter) c.1007T>A (p.Leu336Ter) c.424+1451T>A c.785T>A (p.Leu262Ter) c.*862T>A (n.*862T>A) | |
| X | g.48904942A>C | CA412894616 | SLC35A2 | c.967T>G (p.Leu323Val) c.355-50T>G (n.355-50T>G) c.427-50T>G (n.427-50T>G) c.529T>G c.1051T>G (p.Leu351Val) c.1006T>G (p.Leu336Val) c.424+1450T>G c.784T>G (p.Leu262Val) c.*861T>G (n.*861T>G) | |
| X | g.48904942A>G | CA516359859 | SLC35A2 | c.967T>C (p.Leu323=) c.355-50T>C (n.355-50T>C) c.427-50T>C (n.427-50T>C) c.529T>C c.1051T>C (p.Leu351=) c.1006T>C (p.Leu336=) c.424+1450T>C c.784T>C (p.Leu262=) c.*861T>C (n.*861T>C) | gnomAD v4 |
| X | g.48904942A>T | CA412894617 | SLC35A2 | c.967T>A (p.Leu323Ile) c.355-50T>A (n.355-50T>A) c.427-50T>A (n.427-50T>A) c.529T>A c.1051T>A (p.Leu351Ile) c.1006T>A (p.Leu336Ile) c.424+1450T>A c.784T>A (p.Leu262Ile) c.*861T>A (n.*861T>A) | |
| X | g.48904943T>A | CA516359860 | SLC35A2 | c.966A>T (p.Pro322=) c.355-51A>T (n.355-51A>T) c.427-51A>T (n.427-51A>T) c.528A>T c.1050A>T (p.Pro350=) c.1005A>T (p.Pro335=) c.424+1449A>T c.783A>T (p.Pro261=) c.*860A>T (n.*860A>T) | |
| X | g.48904943T>C | CA10406079 | SLC35A2 | c.966A>G (p.Pro322=) c.355-51A>G (n.355-51A>G) c.427-51A>G (n.427-51A>G) c.528A>G c.1050A>G (p.Pro350=) c.1005A>G (p.Pro335=) c.424+1449A>G c.783A>G (p.Pro261=) c.*860A>G (n.*860A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904943T>G | CA516359861 | SLC35A2 | c.966A>C (p.Pro322=) c.355-51A>C (n.355-51A>C) c.427-51A>C (n.427-51A>C) c.528A>C c.1050A>C (p.Pro350=) c.1005A>C (p.Pro335=) c.424+1449A>C c.783A>C (p.Pro261=) c.*860A>C (n.*860A>C) | |
| X | g.48904943T= | CA2428428828 | SLC35A2 | c.966A= (p.Pro322=) c.355-51A= (n.355-51A=) c.427-51A= (n.427-51A=) c.528A= c.1050A= (p.Pro350=) c.1005A= (p.Pro335=) c.424+1449A= c.783A= (p.Pro261=) c.*860A= (n.*860A=) | |
| X | g.48904944G>A | CA412894620 | SLC35A2 | c.965C>T (p.Pro322Leu) c.355-52C>T (n.355-52C>T) c.427-52C>T (n.427-52C>T) c.527C>T c.1049C>T (p.Pro350Leu) c.1004C>T (p.Pro335Leu) c.424+1448C>T c.782C>T (p.Pro261Leu) c.*859C>T (n.*859C>T) | |
| X | g.48904944G>C | CA412894618 | SLC35A2 | c.965C>G (p.Pro322Arg) c.355-52C>G (n.355-52C>G) c.427-52C>G (n.427-52C>G) c.527C>G c.1049C>G (p.Pro350Arg) c.1004C>G (p.Pro335Arg) c.424+1448C>G c.782C>G (p.Pro261Arg) c.*859C>G (n.*859C>G) | |
| X | g.48904944G>T | CA412894619 | SLC35A2 | c.965C>A (p.Pro322Gln) c.355-52C>A (n.355-52C>A) c.427-52C>A (n.427-52C>A) c.527C>A c.1049C>A (p.Pro350Gln) c.1004C>A (p.Pro335Gln) c.424+1448C>A c.782C>A (p.Pro261Gln) c.*859C>A (n.*859C>A) | |
| X | g.48904945G>A | CA412894622 | SLC35A2 | c.964C>T (p.Pro322Ser) c.355-53C>T (n.355-53C>T) c.427-53C>T (n.427-53C>T) c.526C>T c.1048C>T (p.Pro350Ser) c.1003C>T (p.Pro335Ser) c.424+1447C>T c.781C>T (p.Pro261Ser) c.*858C>T (n.*858C>T) | |
| X | g.48904945G>C | CA412894623 | SLC35A2 | c.964C>G (p.Pro322Ala) c.355-53C>G (n.355-53C>G) c.427-53C>G (n.427-53C>G) c.526C>G c.1048C>G (p.Pro350Ala) c.1003C>G (p.Pro335Ala) c.424+1447C>G c.781C>G (p.Pro261Ala) c.*858C>G (n.*858C>G) | |
| X | g.48904945G>T | CA412894625 | SLC35A2 | c.964C>A (p.Pro322Thr) c.355-53C>A (n.355-53C>A) c.427-53C>A (n.427-53C>A) c.526C>A c.1048C>A (p.Pro350Thr) c.1003C>A (p.Pro335Thr) c.424+1447C>A c.781C>A (p.Pro261Thr) c.*858C>A (n.*858C>A) | |
| X | g.48904946G>A | CA516359862 | SLC35A2 | c.963C>T (p.Asp321=) c.355-54C>T (n.355-54C>T) c.427-54C>T (n.427-54C>T) c.525C>T c.1047C>T (p.Asp349=) c.1002C>T (p.Asp334=) c.424+1446C>T c.780C>T (p.Asp260=) c.*857C>T (n.*857C>T) | ClinVar dbSNP |
| X | g.48904946G>C | CA412894627 | SLC35A2 | c.963C>G (p.Asp321Glu) c.355-54C>G (n.355-54C>G) c.427-54C>G (n.427-54C>G) c.525C>G c.1047C>G (p.Asp349Glu) c.1002C>G (p.Asp334Glu) c.424+1446C>G c.780C>G (p.Asp260Glu) c.*857C>G (n.*857C>G) | |
| X | g.48904946G= | CA2428428829 | SLC35A2 | c.963C= (p.Asp321=) c.355-54C= (n.355-54C=) c.427-54C= (n.427-54C=) c.525C= c.1047C= (p.Asp349=) c.1002C= (p.Asp334=) c.424+1446C= c.780C= (p.Asp260=) c.*857C= (n.*857C=) | |
| X | g.48904946G>T | CA412894629 | SLC35A2 | c.963C>A (p.Asp321Glu) c.355-54C>A (n.355-54C>A) c.427-54C>A (n.427-54C>A) c.525C>A c.1047C>A (p.Asp349Glu) c.1002C>A (p.Asp334Glu) c.424+1446C>A c.780C>A (p.Asp260Glu) c.*857C>A (n.*857C>A) |