| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48904838_48904844delinsCCCGGAG | CA2428428794 | SLC35A2 | c.1065_1071delinsCTCCGGG (p.Ala355=) c.403_409delinsCTCCGGG (p.Leu135=) c.475_481delinsCTCCGGG (p.Leu159=) c.627_633delinsCTCCGGG c.1149_1155delinsCTCCGGG (p.Ala383=) c.1104_1110delinsCTCCGGG (p.Ala368=) c.425-1379_425-1373delinsCTCCGGG c.882_888delinsCTCCGGG (p.Ala294=) c.*959_*965delinsCTCCGGG (n.*959_*965delinsCTCCGGG) | |
| X | g.48904839C>A | CA412894203 | SLC35A2 | c.1070G>T (p.Gly357Val) c.408G>T (p.Arg136=) c.480G>T (p.Arg160=) c.632G>T c.1154G>T (p.Gly385Val) c.1109G>T (p.Gly370Val) c.425-1374G>T c.887G>T (p.Gly296Val) c.*964G>T (n.*964G>T) | |
| X | g.48904839C= | CA2428428796 | SLC35A2 | c.1070G= (p.Gly357=) c.408G= (p.Arg136=) c.480G= (p.Arg160=) c.632G= c.1154G= (p.Gly385=) c.1109G= (p.Gly370=) c.425-1374G= c.887G= (p.Gly296=) c.*964G= (n.*964G=) | |
| X | g.48904839C>G | CA412894205 | SLC35A2 | c.1070G>C (p.Gly357Ala) c.408G>C (p.Arg136=) c.480G>C (p.Arg160=) c.632G>C c.1154G>C (p.Gly385Ala) c.1109G>C (p.Gly370Ala) c.425-1374G>C c.887G>C (p.Gly296Ala) c.*964G>C (n.*964G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48904839C>T | CA412894206 | SLC35A2 | c.1070G>A (p.Gly357Glu) c.408G>A (p.Arg136=) c.480G>A (p.Arg160=) c.632G>A c.1154G>A (p.Gly385Glu) c.1109G>A (p.Gly370Glu) c.425-1374G>A c.887G>A (p.Gly296Glu) c.*964G>A (n.*964G>A) | |
| X | g.48904839_48904844del | CA641902148 | SLC35A2 | c.1065_1070del (p.Ser356_Gly357del) c.403_408del (p.Leu135_Arg136del) c.475_480del (p.Leu159_Arg160del) c.627_632del c.1149_1154del (p.Ser384_Gly385del) c.1104_1109del (p.Ser369_Gly370del) c.425-1379_425-1374del c.882_887del (p.Ser295_Gly296del) c.*959_*964del (n.*959_*964del) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48904839_48904845delinsCCGGAGG | CA2428428795 | SLC35A2 | c.1064_1070delinsCCTCCGG (p.Ala355=) c.402_408delinsCCTCCGG (p.Arg134=) c.474_480delinsCCTCCGG (p.Arg158=) c.626_632delinsCCTCCGG c.1148_1154delinsCCTCCGG (p.Ala383=) c.1103_1109delinsCCTCCGG (p.Ala368=) c.425-1380_425-1374delinsCCTCCGG c.881_887delinsCCTCCGG (p.Ala294=) c.*958_*964delinsCCTCCGG (n.*958_*964delinsCCTCCGG) | |
| X | g.48904840C>A | CA412894211 | SLC35A2 | c.1069G>T (p.Gly357Trp) c.407G>T (p.Arg136Leu) c.479G>T (p.Arg160Leu) c.631G>T c.1153G>T (p.Gly385Trp) c.1108G>T (p.Gly370Trp) c.425-1375G>T c.886G>T (p.Gly296Trp) c.*963G>T (n.*963G>T) | gnomAD v4 |
| X | g.48904840C= | CA2428428797 | SLC35A2 | c.1069G= (p.Gly357=) c.407G= (p.Arg136=) c.479G= (p.Arg160=) c.631G= c.1153G= (p.Gly385=) c.1108G= (p.Gly370=) c.425-1375G= c.886G= (p.Gly296=) c.*963G= (n.*963G=) | |
| X | g.48904840C>G | CA10406062 | SLC35A2 | c.1069G>C (p.Gly357Arg) c.407G>C (p.Arg136Pro) c.479G>C (p.Arg160Pro) c.631G>C c.1153G>C (p.Gly385Arg) c.1108G>C (p.Gly370Arg) c.425-1375G>C c.886G>C (p.Gly296Arg) c.*963G>C (n.*963G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48904840C>T | CA10406063 | SLC35A2 | c.1069G>A (p.Gly357Arg) c.407G>A (p.Arg136Gln) c.479G>A (p.Arg160Gln) c.631G>A c.1153G>A (p.Gly385Arg) c.1108G>A (p.Gly370Arg) c.425-1375G>A c.886G>A (p.Gly296Arg) c.*963G>A (n.*963G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904847_48904852dup | CA641902149 | SLC35A2 | c.1064_1069dup (p.Ser356_Gly357insAlaSer) c.402_407dup (p.Arg136_Ala137insLeuArg) c.474_479dup (p.Arg160_Ala161insLeuArg) c.626_631dup c.1148_1153dup (p.Ser384_Gly385insAlaSer) c.1103_1108dup (p.Ser369_Gly370insAlaSer) c.425-1380_425-1375dup c.881_886dup (p.Ser295_Gly296insAlaSer) c.*958_*963dup (n.*958_*963dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904847_48904852del | CA10406061 | SLC35A2 | c.1064_1069del (p.Ala355_Ser356del) c.402_407del (p.Leu135_Arg136del) c.474_479del (p.Leu159_Arg160del) c.626_631del c.1148_1153del (p.Ala383_Ser384del) c.1103_1108del (p.Ala368_Ser369del) c.425-1380_425-1375del c.881_886del (p.Ala294_Ser295del) c.*958_*963del (n.*958_*963del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904841G>A | CA10406064 | SLC35A2 | c.1068C>T (p.Ser356=) c.406C>T (p.Arg136Trp) c.478C>T (p.Arg160Trp) c.630C>T c.1152C>T (p.Ser384=) c.1107C>T (p.Ser369=) c.425-1376C>T c.885C>T (p.Ser295=) c.*962C>T (n.*962C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904841G>C | CA412894214 | SLC35A2 | c.1068C>G (p.Ser356=) c.406C>G (p.Arg136Gly) c.478C>G (p.Arg160Gly) c.630C>G c.1152C>G (p.Ser384=) c.1107C>G (p.Ser369=) c.425-1376C>G c.885C>G (p.Ser295=) c.*962C>G (n.*962C>G) | |
| X | g.48904841G= | CA2428428798 | SLC35A2 | c.1068C= (p.Ser356=) c.406C= (p.Arg136=) c.478C= (p.Arg160=) c.630C= c.1152C= (p.Ser384=) c.1107C= (p.Ser369=) c.425-1376C= c.885C= (p.Ser295=) c.*962C= (n.*962C=) | |
| X | g.48904841G>T | CA516359919 | SLC35A2 | c.1068C>A (p.Ser356=) c.406C>A (p.Arg136=) c.478C>A (p.Arg160=) c.630C>A c.1152C>A (p.Ser384=) c.1107C>A (p.Ser369=) c.425-1376C>A c.885C>A (p.Ser295=) c.*962C>A (n.*962C>A) | |
| X | g.48904842G>A | CA412894216 | SLC35A2 | c.1067C>T (p.Ser356Phe) c.405C>T (p.Leu135=) c.477C>T (p.Leu159=) c.629C>T c.1151C>T (p.Ser384Phe) c.1106C>T (p.Ser369Phe) c.425-1377C>T c.884C>T (p.Ser295Phe) c.*961C>T (n.*961C>T) | |
| X | g.48904842G>C | CA412894218 | SLC35A2 | c.1067C>G (p.Ser356Cys) c.405C>G (p.Leu135=) c.477C>G (p.Leu159=) c.629C>G c.1151C>G (p.Ser384Cys) c.1106C>G (p.Ser369Cys) c.425-1377C>G c.884C>G (p.Ser295Cys) c.*961C>G (n.*961C>G) | |
| X | g.48904842G= | CA2428428799 | SLC35A2 | c.1067C= (p.Ser356=) c.405C= (p.Leu135=) c.477C= (p.Leu159=) c.629C= c.1151C= (p.Ser384=) c.1106C= (p.Ser369=) c.425-1377C= c.884C= (p.Ser295=) c.*961C= (n.*961C=) | |
| X | g.48904842G>T | CA412894220 | SLC35A2 | c.1067C>A (p.Ser356Tyr) c.405C>A (p.Leu135=) c.477C>A (p.Leu159=) c.629C>A c.1151C>A (p.Ser384Tyr) c.1106C>A (p.Ser369Tyr) c.425-1377C>A c.884C>A (p.Ser295Tyr) c.*961C>A (n.*961C>A) | |
| X | g.48904847_48904858dup | CA2693659196 | SLC35A2 | c.1056_1067dup (p.Ser356_Gly357insAlaSerAlaSer) c.394_405dup (p.Leu135_Arg136insCysLeuArgLeu) c.466_477dup (p.Leu159_Arg160insCysLeuArgLeu) c.618_629dup c.1140_1151dup (p.Ser384_Gly385insAlaSerAlaSer) c.1095_1106dup (p.Ser369_Gly370insAlaSerAlaSer) c.425-1388_425-1377dup c.873_884dup (p.Ser295_Gly296insAlaSerAlaSer) c.*950_*961dup (n.*950_*961dup) | gnomAD v4 |
| X | g.48904843A>C | CA412894222 | SLC35A2 | c.1066T>G (p.Ser356Ala) c.404T>G (p.Leu135Arg) c.476T>G (p.Leu159Arg) c.628T>G c.1150T>G (p.Ser384Ala) c.1105T>G (p.Ser369Ala) c.425-1378T>G c.883T>G (p.Ser295Ala) c.*960T>G (n.*960T>G) | |
| X | g.48904843A>G | CA412894224 | SLC35A2 | c.1066T>C (p.Ser356Pro) c.404T>C (p.Leu135Pro) c.476T>C (p.Leu159Pro) c.628T>C c.1150T>C (p.Ser384Pro) c.1105T>C (p.Ser369Pro) c.425-1378T>C c.883T>C (p.Ser295Pro) c.*960T>C (n.*960T>C) | |
| X | g.48904843A>T | CA412894226 | SLC35A2 | c.1066T>A (p.Ser356Thr) c.404T>A (p.Leu135His) c.476T>A (p.Leu159His) c.628T>A c.1150T>A (p.Ser384Thr) c.1105T>A (p.Ser369Thr) c.425-1378T>A c.883T>A (p.Ser295Thr) c.*960T>A (n.*960T>A) | |
| X | g.48904844_48904845insAGGCAG | CA658799741 | SLC35A2 | c.1066_1067insGCCTCT (p.Ala355_Ser356insCysLeu) c.404_405insGCCTCT (p.Leu135_Arg136insProLeu) c.476_477insGCCTCT (p.Leu159_Arg160insProLeu) c.628_629insGCCTCT c.1150_1151insGCCTCT (p.Ala383_Ser384insCysLeu) c.1105_1106insGCCTCT (p.Ala368_Ser369insCysLeu) c.425-1378_425-1377insGCCTCT c.883_884insGCCTCT (p.Ala294_Ser295insCysLeu) c.*960_*961insGCCTCT (n.*960_*961insGCCTCT) | dbSNP |
| X | g.48904844G>A | CA412894228 | SLC35A2 | c.1065C>T (p.Ala355=) c.403C>T (p.Leu135Phe) c.475C>T (p.Leu159Phe) c.627C>T c.1149C>T (p.Ala383=) c.1104C>T (p.Ala368=) c.425-1379C>T c.882C>T (p.Ala294=) c.*959C>T (n.*959C>T) | |
| X | g.48904844G>C | CA412894233 | SLC35A2 | c.1065C>G (p.Ala355=) c.403C>G (p.Leu135Val) c.475C>G (p.Leu159Val) c.627C>G c.1149C>G (p.Ala383=) c.1104C>G (p.Ala368=) c.425-1379C>G c.882C>G (p.Ala294=) c.*959C>G (n.*959C>G) | |
| X | g.48904844G>T | CA412894231 | SLC35A2 | c.1065C>A (p.Ala355=) c.403C>A (p.Leu135Ile) c.475C>A (p.Leu159Ile) c.627C>A c.1149C>A (p.Ala383=) c.1104C>A (p.Ala368=) c.425-1379C>A c.882C>A (p.Ala294=) c.*959C>A (n.*959C>A) | |
| X | g.48904845G>A | CA412894234 | SLC35A2 | c.1064C>T (p.Ala355Val) c.402C>T (p.Arg134=) c.474C>T (p.Arg158=) c.626C>T c.1148C>T (p.Ala383Val) c.1103C>T (p.Ala368Val) c.425-1380C>T c.881C>T (p.Ala294Val) c.*958C>T (n.*958C>T) | |
| X | g.48904845G>C | CA412894236 | SLC35A2 | c.1064C>G (p.Ala355Gly) c.402C>G (p.Arg134=) c.474C>G (p.Arg158=) c.626C>G c.1148C>G (p.Ala383Gly) c.1103C>G (p.Ala368Gly) c.425-1380C>G c.881C>G (p.Ala294Gly) c.*958C>G (n.*958C>G) | |
| X | g.48904845G>T | CA412894237 | SLC35A2 | c.1064C>A (p.Ala355Asp) c.402C>A (p.Arg134=) c.474C>A (p.Arg158=) c.626C>A c.1148C>A (p.Ala383Asp) c.1103C>A (p.Ala368Asp) c.425-1380C>A c.881C>A (p.Ala294Asp) c.*958C>A (n.*958C>A) | |
| X | g.48904846C>A | CA412894238 | SLC35A2 | c.1063G>T (p.Ala355Ser) c.401G>T (p.Arg134Leu) c.473G>T (p.Arg158Leu) c.625G>T c.1147G>T (p.Ala383Ser) c.1102G>T (p.Ala368Ser) c.425-1381G>T c.880G>T (p.Ala294Ser) c.*957G>T (n.*957G>T) | |
| X | g.48904846C= | CA2428428800 | SLC35A2 | c.1063G= (p.Ala355=) c.401G= (p.Arg134=) c.473G= (p.Arg158=) c.625G= c.1147G= (p.Ala383=) c.1102G= (p.Ala368=) c.425-1381G= c.880G= (p.Ala294=) c.*957G= (n.*957G=) | |
| X | g.48904846C>G | CA412894240 | SLC35A2 | c.1063G>C (p.Ala355Pro) c.401G>C (p.Arg134Pro) c.473G>C (p.Arg158Pro) c.625G>C c.1147G>C (p.Ala383Pro) c.1102G>C (p.Ala368Pro) c.425-1381G>C c.880G>C (p.Ala294Pro) c.*957G>C (n.*957G>C) | |
| X | g.48904846C>T | CA10406065 | SLC35A2 | c.1063G>A (p.Ala355Thr) c.401G>A (p.Arg134His) c.473G>A (p.Arg158His) c.625G>A c.1147G>A (p.Ala383Thr) c.1102G>A (p.Ala368Thr) c.425-1381G>A c.880G>A (p.Ala294Thr) c.*957G>A (n.*957G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.48904847G>A | CA10406067 | SLC35A2 | c.1062C>T (p.Ser354=) c.400C>T (p.Arg134Cys) c.472C>T (p.Arg158Cys) c.624C>T c.1146C>T (p.Ser382=) c.1101C>T (p.Ser367=) c.425-1382C>T c.879C>T (p.Ser293=) c.*956C>T (n.*956C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904847G>C | CA412894244 | SLC35A2 | c.1062C>G (p.Ser354=) c.400C>G (p.Arg134Gly) c.472C>G (p.Arg158Gly) c.624C>G c.1146C>G (p.Ser382=) c.1101C>G (p.Ser367=) c.425-1382C>G c.879C>G (p.Ser293=) c.*956C>G (n.*956C>G) | |
| X | g.48904847G= | CA2428428801 | SLC35A2 | c.1062C= (p.Ser354=) c.400C= (p.Arg134=) c.472C= (p.Arg158=) c.624C= c.1146C= (p.Ser382=) c.1101C= (p.Ser367=) c.425-1382C= c.879C= (p.Ser293=) c.*956C= (n.*956C=) | |
| X | g.48904847G>T | CA412894246 | SLC35A2 | c.1062C>A (p.Ser354=) c.400C>A (p.Arg134Ser) c.472C>A (p.Arg158Ser) c.624C>A c.1146C>A (p.Ser382=) c.1101C>A (p.Ser367=) c.425-1382C>A c.879C>A (p.Ser293=) c.*956C>A (n.*956C>A) | |
| X | g.48904847_48904853delinsGGAGGCA | CA2428428802 | SLC35A2 | c.1056_1062delinsTGCCTCC (p.Ser352=) c.394_400delinsTGCCTCC (p.Cys132=) c.466_472delinsTGCCTCC (p.Cys156=) c.618_624delinsTGCCTCC c.1140_1146delinsTGCCTCC (p.Ser380=) c.1095_1101delinsTGCCTCC (p.Ser365=) c.425-1388_425-1382delinsTGCCTCC c.873_879delinsTGCCTCC (p.Ser291=) c.*950_*956delinsTGCCTCC (n.*950_*956delinsTGCCTCC) | |
| X | g.48904848G>A | CA412894248 | SLC35A2 | c.1061C>T (p.Ser354Phe) c.399C>T (p.Leu133=) c.471C>T (p.Leu157=) c.623C>T c.1145C>T (p.Ser382Phe) c.1100C>T (p.Ser367Phe) c.425-1383C>T c.878C>T (p.Ser293Phe) c.*955C>T (n.*955C>T) | |
| X | g.48904848G>C | CA412894251 | SLC35A2 | c.1061C>G (p.Ser354Cys) c.399C>G (p.Leu133=) c.471C>G (p.Leu157=) c.623C>G c.1145C>G (p.Ser382Cys) c.1100C>G (p.Ser367Cys) c.425-1383C>G c.878C>G (p.Ser293Cys) c.*955C>G (n.*955C>G) | |
| X | g.48904848G>T | CA412894253 | SLC35A2 | c.1061C>A (p.Ser354Tyr) c.399C>A (p.Leu133=) c.471C>A (p.Leu157=) c.623C>A c.1145C>A (p.Ser382Tyr) c.1100C>A (p.Ser367Tyr) c.425-1383C>A c.878C>A (p.Ser293Tyr) c.*955C>A (n.*955C>A) | |
| X | g.48904859_48904864dup | CA641902150 | SLC35A2 | c.1056_1061dup (p.Ser354_Ala355insAlaSer) c.394_399dup (p.Leu133_Arg134insCysLeu) c.466_471dup (p.Leu157_Arg158insCysLeu) c.618_623dup c.1140_1145dup (p.Ser382_Ala383insAlaSer) c.1095_1100dup (p.Ser367_Ala368insAlaSer) c.425-1388_425-1383dup c.873_878dup (p.Ser293_Ala294insAlaSer) c.*950_*955dup (n.*950_*955dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48904859_48904864del | CA10406066 | SLC35A2 | c.1056_1061del (p.Ala353_Ser354del) c.394_399del (p.Cys132_Leu133del) c.466_471del (p.Cys156_Leu157del) c.618_623del c.1140_1145del (p.Ala381_Ser382del) c.1095_1100del (p.Ala366_Ser367del) c.425-1388_425-1383del c.873_878del (p.Ala292_Ser293del) c.*950_*955del (n.*950_*955del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48904849A>C | CA412894255 | SLC35A2 | c.1060T>G (p.Ser354Ala) c.398T>G (p.Leu133Arg) c.470T>G (p.Leu157Arg) c.622T>G c.1144T>G (p.Ser382Ala) c.1099T>G (p.Ser367Ala) c.425-1384T>G c.877T>G (p.Ser293Ala) c.*954T>G (n.*954T>G) | |
| X | g.48904849A>G | CA412894260 | SLC35A2 | c.1060T>C (p.Ser354Pro) c.398T>C (p.Leu133Pro) c.470T>C (p.Leu157Pro) c.622T>C c.1144T>C (p.Ser382Pro) c.1099T>C (p.Ser367Pro) c.425-1384T>C c.877T>C (p.Ser293Pro) c.*954T>C (n.*954T>C) | |
| X | g.48904849A>T | CA412894258 | SLC35A2 | c.1060T>A (p.Ser354Thr) c.398T>A (p.Leu133His) c.470T>A (p.Leu157His) c.622T>A c.1144T>A (p.Ser382Thr) c.1099T>A (p.Ser367Thr) c.425-1384T>A c.877T>A (p.Ser293Thr) c.*954T>A (n.*954T>A) | |
| X | g.48904850G>A | CA412894262 | SLC35A2 | c.1059C>T (p.Ala353=) c.397C>T (p.Leu133Phe) c.469C>T (p.Leu157Phe) c.621C>T c.1143C>T (p.Ala381=) c.1098C>T (p.Ala366=) c.425-1385C>T c.876C>T (p.Ala292=) c.*953C>T (n.*953C>T) |