Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.48904529_48904813delinsCCTCCCG | CA2573055342 | SLC35A2 | c.1096_1163+217delinsCGGGAGG c.434_*61delinsCGGGAGG (n.[c.434_*61delinsCGGGAGG;Arg145ProfsTer?]) c.1096_*198delinsCGGGAGG (n.[c.1096_*198delinsCGGGAGG;Gly366ArgfsTer11]) c.506_573+217delinsCGGGAGG c.658_942delinsCGGGAGG c.506_*61delinsCGGGAGG (n.[c.506_*61delinsCGGGAGG;Arg169ProfsTer?]) c.1180_*198delinsCGGGAGG (n.[c.1180_*198delinsCGGGAGG;Gly394ArgfsTer11]) c.1135_*198delinsCGGGAGG (n.[c.1135_*198delinsCGGGAGG;Gly379ArgfsTer11]) c.425-1348_425-1064delinsCGGGAGG c.913_*198delinsCGGGAGG (n.[c.913_*198delinsCGGGAGG;Gly305ArgfsTer11]) c.*990_*1274delinsCGGGAGG (n.*990_*1274delinsCGGGAGG) | ClinVar dbSNP |
X | g.48904659G>A | CA10406032 | SLC35A2 | c.1163+87C>T (n.1163+87C>T) c.588C>T (p.Asp196=) c.*68C>T (n.*68C>T) c.573+87C>T (n.573+87C>T) c.812C>T c.660C>T (p.Asp220=) c.425-1194C>T c.*1144C>T (n.*1144C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904659G>C | CA412893740 | SLC35A2 | c.1163+87C>G (n.1163+87C>G) c.588C>G (p.Asp196Glu) c.*68C>G (n.*68C>G) c.573+87C>G (n.573+87C>G) c.812C>G c.660C>G (p.Asp220Glu) c.425-1194C>G c.*1144C>G (n.*1144C>G) | |
X | g.48904659G= | CA2428428719 | SLC35A2 | c.1163+87C= (n.1163+87C=) c.588C= (p.Asp196=) c.*68C= (n.*68C=) c.573+87C= (n.573+87C=) c.812C= c.660C= (p.Asp220=) c.425-1194C= c.*1144C= (n.*1144C=) | |
X | g.48904659G>T | CA412893741 | SLC35A2 | c.1163+87C>A (n.1163+87C>A) c.588C>A (p.Asp196Glu) c.*68C>A (n.*68C>A) c.573+87C>A (n.573+87C>A) c.812C>A c.660C>A (p.Asp220Glu) c.425-1194C>A c.*1144C>A (n.*1144C>A) | |
X | g.48904660T>A | CA412893742 | SLC35A2 | c.1163+86A>T (n.1163+86A>T) c.587A>T (p.Asp196Val) c.*67A>T (n.*67A>T) c.573+86A>T (n.573+86A>T) c.811A>T c.659A>T (p.Asp220Val) c.425-1195A>T c.*1143A>T (n.*1143A>T) | |
X | g.48904660T>C | CA412893743 | SLC35A2 | c.1163+86A>G (n.1163+86A>G) c.587A>G (p.Asp196Gly) c.*67A>G (n.*67A>G) c.573+86A>G (n.573+86A>G) c.811A>G c.659A>G (p.Asp220Gly) c.425-1195A>G c.*1143A>G (n.*1143A>G) | |
X | g.48904660T>G | CA412893744 | SLC35A2 | c.1163+86A>C (n.1163+86A>C) c.587A>C (p.Asp196Ala) c.*67A>C (n.*67A>C) c.573+86A>C (n.573+86A>C) c.811A>C c.659A>C (p.Asp220Ala) c.425-1195A>C c.*1143A>C (n.*1143A>C) | |
X | g.48904661C>A | CA412893745 | SLC35A2 | c.1163+85G>T (n.1163+85G>T) c.586G>T (p.Asp196Tyr) c.*66G>T (n.*66G>T) c.573+85G>T (n.573+85G>T) c.810G>T c.658G>T (p.Asp220Tyr) c.425-1196G>T c.*1142G>T (n.*1142G>T) | |
X | g.48904661C>G | CA412893746 | SLC35A2 | c.1163+85G>C (n.1163+85G>C) c.586G>C (p.Asp196His) c.*66G>C (n.*66G>C) c.573+85G>C (n.573+85G>C) c.810G>C c.658G>C (p.Asp220His) c.425-1196G>C c.*1142G>C (n.*1142G>C) | |
X | g.48904661C>T | CA412893747 | SLC35A2 | c.1163+85G>A (n.1163+85G>A) c.586G>A (p.Asp196Asn) c.*66G>A (n.*66G>A) c.573+85G>A (n.573+85G>A) c.810G>A c.658G>A (p.Asp220Asn) c.425-1196G>A c.*1142G>A (n.*1142G>A) | |
X | g.48904662C>A | CA412893749 | SLC35A2 | c.1163+84G>T (n.1163+84G>T) c.585G>T (p.Gln195His) c.*65G>T (n.*65G>T) c.573+84G>T (n.573+84G>T) c.809G>T c.657G>T (p.Gln219His) c.425-1197G>T c.*1141G>T (n.*1141G>T) | |
X | g.48904662C= | CA2428428720 | SLC35A2 | c.1163+84G= (n.1163+84G=) c.585G= (p.Gln195=) c.*65G= (n.*65G=) c.573+84G= (n.573+84G=) c.809G= c.657G= (p.Gln219=) c.425-1197G= c.*1141G= (n.*1141G=) | |
X | g.48904662C>G | CA412893748 | SLC35A2 | c.1163+84G>C (n.1163+84G>C) c.585G>C (p.Gln195His) c.*65G>C (n.*65G>C) c.573+84G>C (n.573+84G>C) c.809G>C c.657G>C (p.Gln219His) c.425-1197G>C c.*1141G>C (n.*1141G>C) | |
X | g.48904662C>T | CA641902143 | SLC35A2 | c.1163+84G>A (n.1163+84G>A) c.585G>A (p.Gln195=) c.*65G>A (n.*65G>A) c.573+84G>A (n.573+84G>A) c.809G>A c.657G>A (p.Gln219=) c.425-1197G>A c.*1141G>A (n.*1141G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904663T>A | CA412893750 | SLC35A2 | c.1163+83A>T (n.1163+83A>T) c.584A>T (p.Gln195Leu) c.*64A>T (n.*64A>T) c.573+83A>T (n.573+83A>T) c.808A>T c.656A>T (p.Gln219Leu) c.425-1198A>T c.*1140A>T (n.*1140A>T) | |
X | g.48904663T>C | CA412893751 | SLC35A2 | c.1163+83A>G (n.1163+83A>G) c.584A>G (p.Gln195Arg) c.*64A>G (n.*64A>G) c.573+83A>G (n.573+83A>G) c.808A>G c.656A>G (p.Gln219Arg) c.425-1198A>G c.*1140A>G (n.*1140A>G) | |
X | g.48904663T>G | CA412893752 | SLC35A2 | c.1163+83A>C (n.1163+83A>C) c.584A>C (p.Gln195Pro) c.*64A>C (n.*64A>C) c.573+83A>C (n.573+83A>C) c.808A>C c.656A>C (p.Gln219Pro) c.425-1198A>C c.*1140A>C (n.*1140A>C) | |
X | g.48904664G>A | CA412893753 | SLC35A2 | c.1163+82C>T (n.1163+82C>T) c.583C>T (p.Gln195Ter) c.*63C>T (n.*63C>T) c.573+82C>T (n.573+82C>T) c.807C>T c.655C>T (p.Gln219Ter) c.425-1199C>T c.*1139C>T (n.*1139C>T) | gnomAD v4 |
X | g.48904664G>C | CA412893754 | SLC35A2 | c.1163+82C>G (n.1163+82C>G) c.583C>G (p.Gln195Glu) c.*63C>G (n.*63C>G) c.573+82C>G (n.573+82C>G) c.807C>G c.655C>G (p.Gln219Glu) c.425-1199C>G c.*1139C>G (n.*1139C>G) | |
X | g.48904664G>T | CA412893755 | SLC35A2 | c.1163+82C>A (n.1163+82C>A) c.583C>A (p.Gln195Lys) c.*63C>A (n.*63C>A) c.573+82C>A (n.573+82C>A) c.807C>A c.655C>A (p.Gln219Lys) c.425-1199C>A c.*1139C>A (n.*1139C>A) | |
X | g.48904665C>A | CA2738571207 | SLC35A2 | c.1163+81G>T (n.1163+81G>T) c.582G>T (p.Leu194=) c.*62G>T (n.*62G>T) c.573+81G>T (n.573+81G>T) c.806G>T c.654G>T (p.Leu218=) c.425-1200G>T c.*1138G>T (n.*1138G>T) | dbSNP |
X | g.48904665C= | CA2428428721 | SLC35A2 | c.1163+81G= (n.1163+81G=) c.582G= (p.Leu194=) c.*62G= (n.*62G=) c.573+81G= (n.573+81G=) c.806G= c.654G= (p.Leu218=) c.425-1200G= c.*1138G= (n.*1138G=) | |
X | g.48904665C>T | CA2428428722 | SLC35A2 | c.1163+81G>A (n.1163+81G>A) c.582G>A (p.Leu194=) c.*62G>A (n.*62G>A) c.573+81G>A (n.573+81G>A) c.806G>A c.654G>A (p.Leu218=) c.425-1200G>A c.*1138G>A (n.*1138G>A) | dbSNP |
X | g.48904666A>C | CA412893756 | SLC35A2 | c.1163+80T>G (n.1163+80T>G) c.581T>G (p.Leu194Arg) c.*61T>G (n.*61T>G) c.573+80T>G (n.573+80T>G) c.805T>G c.653T>G (p.Leu218Arg) c.425-1201T>G c.*1137T>G (n.*1137T>G) | |
X | g.48904666A>G | CA412893757 | SLC35A2 | c.1163+80T>C (n.1163+80T>C) c.581T>C (p.Leu194Pro) c.*61T>C (n.*61T>C) c.573+80T>C (n.573+80T>C) c.805T>C c.653T>C (p.Leu218Pro) c.425-1201T>C c.*1137T>C (n.*1137T>C) | gnomAD v4 |
X | g.48904666A>T | CA412893758 | SLC35A2 | c.1163+80T>A (n.1163+80T>A) c.581T>A (p.Leu194Gln) c.*61T>A (n.*61T>A) c.573+80T>A (n.573+80T>A) c.805T>A c.653T>A (p.Leu218Gln) c.425-1201T>A c.*1137T>A (n.*1137T>A) | |
X | g.48904667G>A | CA2428428724 | SLC35A2 | c.1163+79C>T (n.1163+79C>T) c.580C>T (p.Leu194=) c.*60C>T (n.*60C>T) c.573+79C>T (n.573+79C>T) c.804C>T c.652C>T (p.Leu218=) c.425-1202C>T c.*1136C>T (n.*1136C>T) | dbSNP |
X | g.48904667G>C | CA412893759 | SLC35A2 | c.1163+79C>G (n.1163+79C>G) c.580C>G (p.Leu194Val) c.*60C>G (n.*60C>G) c.573+79C>G (n.573+79C>G) c.804C>G c.652C>G (p.Leu218Val) c.425-1202C>G c.*1136C>G (n.*1136C>G) | |
X | g.48904667G= | CA2428428723 | SLC35A2 | c.1163+79C= (n.1163+79C=) c.580C= (p.Leu194=) c.*60C= (n.*60C=) c.573+79C= (n.573+79C=) c.804C= c.652C= (p.Leu218=) c.425-1202C= c.*1136C= (n.*1136C=) | |
X | g.48904667G>T | CA412893760 | SLC35A2 | c.1163+79C>A (n.1163+79C>A) c.580C>A (p.Leu194Met) c.*60C>A (n.*60C>A) c.573+79C>A (n.573+79C>A) c.804C>A c.652C>A (p.Leu218Met) c.425-1202C>A c.*1136C>A (n.*1136C>A) | |
X | g.48904668A= | CA2428428725 | SLC35A2 | c.1163+78T= (n.1163+78T=) c.579T= (p.His193=) c.*59T= (n.*59T=) c.573+78T= (n.573+78T=) c.803T= c.651T= (p.His217=) c.425-1203T= c.*1135T= (n.*1135T=) | |
X | g.48904668A>C | CA412893761 | SLC35A2 | c.1163+78T>G (n.1163+78T>G) c.579T>G (p.His193Gln) c.*59T>G (n.*59T>G) c.573+78T>G (n.573+78T>G) c.803T>G c.651T>G (p.His217Gln) c.425-1203T>G c.*1135T>G (n.*1135T>G) | |
X | g.48904668A>G | CA641902144 | SLC35A2 | c.1163+78T>C (n.1163+78T>C) c.579T>C (p.His193=) c.*59T>C (n.*59T>C) c.573+78T>C (n.573+78T>C) c.803T>C c.651T>C (p.His217=) c.425-1203T>C c.*1135T>C (n.*1135T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904668A>T | CA412893762 | SLC35A2 | c.1163+78T>A (n.1163+78T>A) c.579T>A (p.His193Gln) c.*59T>A (n.*59T>A) c.573+78T>A (n.573+78T>A) c.803T>A c.651T>A (p.His217Gln) c.425-1203T>A c.*1135T>A (n.*1135T>A) | |
X | g.48904669T>A | CA412893765 | SLC35A2 | c.1163+77A>T (n.1163+77A>T) c.578A>T (p.His193Leu) c.*58A>T (n.*58A>T) c.573+77A>T (n.573+77A>T) c.802A>T c.650A>T (p.His217Leu) c.425-1204A>T c.*1134A>T (n.*1134A>T) | |
X | g.48904669T>C | CA412893763 | SLC35A2 | c.1163+77A>G (n.1163+77A>G) c.578A>G (p.His193Arg) c.*58A>G (n.*58A>G) c.573+77A>G (n.573+77A>G) c.802A>G c.650A>G (p.His217Arg) c.425-1204A>G c.*1134A>G (n.*1134A>G) | |
X | g.48904669T>G | CA412893764 | SLC35A2 | c.1163+77A>C (n.1163+77A>C) c.578A>C (p.His193Pro) c.*58A>C (n.*58A>C) c.573+77A>C (n.573+77A>C) c.802A>C c.650A>C (p.His217Pro) c.425-1204A>C c.*1134A>C (n.*1134A>C) | |
X | g.48904670G>A | CA412893766 | SLC35A2 | c.1163+76C>T (n.1163+76C>T) c.577C>T (p.His193Tyr) c.*57C>T (n.*57C>T) c.573+76C>T (n.573+76C>T) c.801C>T c.649C>T (p.His217Tyr) c.425-1205C>T c.*1133C>T (n.*1133C>T) | dbSNP |
X | g.48904670G>C | CA412893767 | SLC35A2 | c.1163+76C>G (n.1163+76C>G) c.577C>G (p.His193Asp) c.*57C>G (n.*57C>G) c.573+76C>G (n.573+76C>G) c.801C>G c.649C>G (p.His217Asp) c.425-1205C>G c.*1133C>G (n.*1133C>G) | |
X | g.48904670G= | CA2428428726 | SLC35A2 | c.1163+76C= (n.1163+76C=) c.577C= (p.His193=) c.*57C= (n.*57C=) c.573+76C= (n.573+76C=) c.801C= c.649C= (p.His217=) c.425-1205C= c.*1133C= (n.*1133C=) | |
X | g.48904670G>T | CA412893768 | SLC35A2 | c.1163+76C>A (n.1163+76C>A) c.577C>A (p.His193Asn) c.*57C>A (n.*57C>A) c.573+76C>A (n.573+76C>A) c.801C>A c.649C>A (p.His217Asn) c.425-1205C>A c.*1133C>A (n.*1133C>A) | |
X | g.48904672C>A | CA412893769 | SLC35A2 | c.1163+74G>T (n.1163+74G>T) c.575G>T (p.Gly192Val) c.*55G>T (n.*55G>T) c.573+74G>T (n.573+74G>T) c.799G>T c.647G>T (p.Gly216Val) c.425-1207G>T c.*1131G>T (n.*1131G>T) | |
X | g.48904672C>G | CA412893770 | SLC35A2 | c.1163+74G>C (n.1163+74G>C) c.575G>C (p.Gly192Ala) c.*55G>C (n.*55G>C) c.573+74G>C (n.573+74G>C) c.799G>C c.647G>C (p.Gly216Ala) c.425-1207G>C c.*1131G>C (n.*1131G>C) | |
X | g.48904672C>T | CA412893771 | SLC35A2 | c.1163+74G>A (n.1163+74G>A) c.575G>A (p.Gly192Glu) c.*55G>A (n.*55G>A) c.573+74G>A (n.573+74G>A) c.799G>A c.647G>A (p.Gly216Glu) c.425-1207G>A c.*1131G>A (n.*1131G>A) | gnomAD v4 |
X | g.48904673C>A | CA412893772 | SLC35A2 | c.1163+73G>T (n.1163+73G>T) c.574G>T (p.Gly192Trp) c.*54G>T (n.*54G>T) c.573+73G>T (n.573+73G>T) c.798G>T c.646G>T (p.Gly216Trp) c.425-1208G>T c.*1130G>T (n.*1130G>T) | |
X | g.48904673C>G | CA412893773 | SLC35A2 | c.1163+73G>C (n.1163+73G>C) c.574G>C (p.Gly192Arg) c.*54G>C (n.*54G>C) c.573+73G>C (n.573+73G>C) c.798G>C c.646G>C (p.Gly216Arg) c.425-1208G>C c.*1130G>C (n.*1130G>C) | |
X | g.48904673C>T | CA412893774 | SLC35A2 | c.1163+73G>A (n.1163+73G>A) c.574G>A (p.Gly192Arg) c.*54G>A (n.*54G>A) c.573+73G>A (n.573+73G>A) c.798G>A c.646G>A (p.Gly216Arg) c.425-1208G>A c.*1130G>A (n.*1130G>A) | |
X | g.48904674A= | CA2428428727 | SLC35A2 | c.1163+72T= (n.1163+72T=) c.573T= (p.Val191=) c.*53T= (n.*53T=) c.573+72T= (n.573+72T=) c.797T= c.645T= (p.Val215=) c.425-1209T= c.*1129T= (n.*1129T=) | |
X | g.48904674A>C | CA329098396 | SLC35A2 | c.1163+72T>G (n.1163+72T>G) c.573T>G (p.Val191=) c.*53T>G (n.*53T>G) c.573+72T>G (n.573+72T>G) c.797T>G c.645T>G (p.Val215=) c.425-1209T>G c.*1129T>G (n.*1129T>G) | dbSNP |
X | g.48904675A>C | CA412893775 | SLC35A2 | c.1163+71T>G (n.1163+71T>G) c.572T>G (p.Val191Gly) c.*52T>G (n.*52T>G) c.573+71T>G (n.573+71T>G) c.796T>G c.644T>G (p.Val215Gly) c.425-1210T>G c.*1128T>G (n.*1128T>G) | |
X | g.48904675A>G | CA412893776 | SLC35A2 | c.1163+71T>C (n.1163+71T>C) c.572T>C (p.Val191Ala) c.*52T>C (n.*52T>C) c.573+71T>C (n.573+71T>C) c.796T>C c.644T>C (p.Val215Ala) c.425-1210T>C c.*1128T>C (n.*1128T>C) | |
X | g.48904675A>T | CA412893777 | SLC35A2 | c.1163+71T>A (n.1163+71T>A) c.572T>A (p.Val191Asp) c.*52T>A (n.*52T>A) c.573+71T>A (n.573+71T>A) c.796T>A c.644T>A (p.Val215Asp) c.425-1210T>A c.*1128T>A (n.*1128T>A) | |
X | g.48904676C>A | CA412893779 | SLC35A2 | c.1163+70G>T (n.1163+70G>T) c.571G>T (p.Val191Phe) c.*51G>T (n.*51G>T) c.573+70G>T (n.573+70G>T) c.795G>T c.643G>T (p.Val215Phe) c.425-1211G>T c.*1127G>T (n.*1127G>T) | |
X | g.48904676C>G | CA412893780 | SLC35A2 | c.1163+70G>C (n.1163+70G>C) c.571G>C (p.Val191Leu) c.*51G>C (n.*51G>C) c.573+70G>C (n.573+70G>C) c.795G>C c.643G>C (p.Val215Leu) c.425-1211G>C c.*1127G>C (n.*1127G>C) | |
X | g.48904676C>T | CA412893778 | SLC35A2 | c.1163+70G>A (n.1163+70G>A) c.571G>A (p.Val191Ile) c.*51G>A (n.*51G>A) c.573+70G>A (n.573+70G>A) c.795G>A c.643G>A (p.Val215Ile) c.425-1211G>A c.*1127G>A (n.*1127G>A) | ClinVar dbSNP |
X | g.48904677A= | CA2428428728 | SLC35A2 | c.1163+69T= (n.1163+69T=) c.570T= (p.Gly190=) c.*50T= (n.*50T=) c.573+69T= (n.573+69T=) c.794T= c.642T= (p.Gly214=) c.425-1212T= c.*1126T= (n.*1126T=) | |
X | g.48904677A>G | CA875942169 | SLC35A2 | c.1163+69T>C (n.1163+69T>C) c.570T>C (p.Gly190=) c.*50T>C (n.*50T>C) c.573+69T>C (n.573+69T>C) c.794T>C c.642T>C (p.Gly214=) c.425-1212T>C c.*1126T>C (n.*1126T>C) | dbSNP |
X | g.48904678C>A | CA412893782 | SLC35A2 | c.1163+68G>T (n.1163+68G>T) c.569G>T (p.Gly190Val) c.*49G>T (n.*49G>T) c.573+68G>T (n.573+68G>T) c.793G>T c.641G>T (p.Gly214Val) c.425-1213G>T c.*1125G>T (n.*1125G>T) | gnomAD v4 |
X | g.48904678C>G | CA412893781 | SLC35A2 | c.1163+68G>C (n.1163+68G>C) c.569G>C (p.Gly190Ala) c.*49G>C (n.*49G>C) c.573+68G>C (n.573+68G>C) c.793G>C c.641G>C (p.Gly214Ala) c.425-1213G>C c.*1125G>C (n.*1125G>C) | |
X | g.48904678C>T | CA412893783 | SLC35A2 | c.1163+68G>A (n.1163+68G>A) c.569G>A (p.Gly190Asp) c.*49G>A (n.*49G>A) c.573+68G>A (n.573+68G>A) c.793G>A c.641G>A (p.Gly214Asp) c.425-1213G>A c.*1125G>A (n.*1125G>A) | |
X | g.48904680dup | CA1139769959 | SLC35A2 | c.1163+68dup (n.1163+68dup) c.569dup (p.Val191CysfsTer?) c.*49dup (n.*49dup) c.573+68dup (n.573+68dup) c.793dup c.641dup (p.Val215CysfsTer?) c.425-1213dup c.*1125dup (n.*1125dup) | |
X | g.48904679_48904680dup | CA2579984153 | SLC35A2 | c.1163+67_1163+68dup (n.1163+67_1163+68dup) c.568_569dup (p.Gly192LeufsTer?) c.*48_*49dup (n.*48_*49dup) c.573+67_573+68dup (n.573+67_573+68dup) c.792_793dup c.640_641dup (p.Gly216LeufsTer?) c.425-1214_425-1213dup c.*1124_*1125dup (n.*1124_*1125dup) | |
X | g.48904679C>A | CA412893784 | SLC35A2 | c.1163+67G>T (n.1163+67G>T) c.568G>T (p.Gly190Cys) c.*48G>T (n.*48G>T) c.573+67G>T (n.573+67G>T) c.792G>T c.640G>T (p.Gly214Cys) c.425-1214G>T c.*1124G>T (n.*1124G>T) | |
X | g.48904679C>G | CA412893786 | SLC35A2 | c.1163+67G>C (n.1163+67G>C) c.568G>C (p.Gly190Arg) c.*48G>C (n.*48G>C) c.573+67G>C (n.573+67G>C) c.792G>C c.640G>C (p.Gly214Arg) c.425-1214G>C c.*1124G>C (n.*1124G>C) | |
X | g.48904679C>T | CA412893785 | SLC35A2 | c.1163+67G>A (n.1163+67G>A) c.568G>A (p.Gly190Ser) c.*48G>A (n.*48G>A) c.573+67G>A (n.573+67G>A) c.792G>A c.640G>A (p.Gly214Ser) c.425-1214G>A c.*1124G>A (n.*1124G>A) | |
X | g.48904680C>A | CA412893787 | SLC35A2 | c.1163+66G>T (n.1163+66G>T) c.567G>T (p.Glu189Asp) c.*47G>T (n.*47G>T) c.573+66G>T (n.573+66G>T) c.791G>T c.639G>T (p.Glu213Asp) c.425-1215G>T c.*1123G>T (n.*1123G>T) | gnomAD v4 |
X | g.48904680C= | CA2428428729 | SLC35A2 | c.1163+66G= (n.1163+66G=) c.567G= (p.Glu189=) c.*47G= (n.*47G=) c.573+66G= (n.573+66G=) c.791G= c.639G= (p.Glu213=) c.425-1215G= c.*1123G= (n.*1123G=) | |
X | g.48904680C>G | CA412893788 | SLC35A2 | c.1163+66G>C (n.1163+66G>C) c.567G>C (p.Glu189Asp) c.*47G>C (n.*47G>C) c.573+66G>C (n.573+66G>C) c.791G>C c.639G>C (p.Glu213Asp) c.425-1215G>C c.*1123G>C (n.*1123G>C) | |
X | g.48904680C>T | CA641902145 | SLC35A2 | c.1163+66G>A (n.1163+66G>A) c.567G>A (p.Glu189=) c.*47G>A (n.*47G>A) c.573+66G>A (n.573+66G>A) c.791G>A c.639G>A (p.Glu213=) c.425-1215G>A c.*1123G>A (n.*1123G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904681T>A | CA412893789 | SLC35A2 | c.1163+65A>T (n.1163+65A>T) c.566A>T (p.Glu189Val) c.*46A>T (n.*46A>T) c.573+65A>T (n.573+65A>T) c.790A>T c.638A>T (p.Glu213Val) c.425-1216A>T c.*1122A>T (n.*1122A>T) | |
X | g.48904681T>C | CA412893790 | SLC35A2 | c.1163+65A>G (n.1163+65A>G) c.566A>G (p.Glu189Gly) c.*46A>G (n.*46A>G) c.573+65A>G (n.573+65A>G) c.790A>G c.638A>G (p.Glu213Gly) c.425-1216A>G c.*1122A>G (n.*1122A>G) | gnomAD v4 |
X | g.48904681T>G | CA412893791 | SLC35A2 | c.1163+65A>C (n.1163+65A>C) c.566A>C (p.Glu189Ala) c.*46A>C (n.*46A>C) c.573+65A>C (n.573+65A>C) c.790A>C c.638A>C (p.Glu213Ala) c.425-1216A>C c.*1122A>C (n.*1122A>C) | |
X | g.48904682C>A | CA412893792 | SLC35A2 | c.1163+64G>T (n.1163+64G>T) c.565G>T (p.Glu189Ter) c.*45G>T (n.*45G>T) c.573+64G>T (n.573+64G>T) c.789G>T c.637G>T (p.Glu213Ter) c.425-1217G>T c.*1121G>T (n.*1121G>T) | |
X | g.48904682C>G | CA412893793 | SLC35A2 | c.1163+64G>C (n.1163+64G>C) c.565G>C (p.Glu189Gln) c.*45G>C (n.*45G>C) c.573+64G>C (n.573+64G>C) c.789G>C c.637G>C (p.Glu213Gln) c.425-1217G>C c.*1121G>C (n.*1121G>C) | |
X | g.48904682C>T | CA412893794 | SLC35A2 | c.1163+64G>A (n.1163+64G>A) c.565G>A (p.Glu189Lys) c.*45G>A (n.*45G>A) c.573+64G>A (n.573+64G>A) c.789G>A c.637G>A (p.Glu213Lys) c.425-1217G>A c.*1121G>A (n.*1121G>A) | |
X | g.48904682_48904683del | CA2579602943 | SLC35A2 | c.1163+63_1163+64del (n.1163+63_1163+64del) c.564_565del (p.Glu189GlyfsTer?) c.*44_*45del (n.*44_*45del) c.573+63_573+64del (n.573+63_573+64del) c.788_789del c.636_637del (p.Glu213GlyfsTer?) c.425-1218_425-1217del c.*1120_*1121del (n.*1120_*1121del) | |
X | g.48904683C= | CA2428428730 | SLC35A2 | c.1163+63G= (n.1163+63G=) c.564G= (p.Val188=) c.*44G= (n.*44G=) c.573+63G= (n.573+63G=) c.788G= c.636G= (p.Val212=) c.425-1218G= c.*1120G= (n.*1120G=) | |
X | g.48904683C>T | CA10406033 | SLC35A2 | c.1163+63G>A (n.1163+63G>A) c.564G>A (p.Val188=) c.*44G>A (n.*44G>A) c.573+63G>A (n.573+63G>A) c.788G>A c.636G>A (p.Val212=) c.425-1218G>A c.*1120G>A (n.*1120G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48904684A>C | CA412893795 | SLC35A2 | c.1163+62T>G (n.1163+62T>G) c.563T>G (p.Val188Gly) c.*43T>G (n.*43T>G) c.573+62T>G (n.573+62T>G) c.787T>G c.635T>G (p.Val212Gly) c.425-1219T>G c.*1119T>G (n.*1119T>G) | |
X | g.48904684A>G | CA412893796 | SLC35A2 | c.1163+62T>C (n.1163+62T>C) c.563T>C (p.Val188Ala) c.*43T>C (n.*43T>C) c.573+62T>C (n.573+62T>C) c.787T>C c.635T>C (p.Val212Ala) c.425-1219T>C c.*1119T>C (n.*1119T>C) | |
X | g.48904684A>T | CA412893797 | SLC35A2 | c.1163+62T>A (n.1163+62T>A) c.563T>A (p.Val188Glu) c.*43T>A (n.*43T>A) c.573+62T>A (n.573+62T>A) c.787T>A c.635T>A (p.Val212Glu) c.425-1219T>A c.*1119T>A (n.*1119T>A) | |
X | g.48904684_48904685insGAATACTATATGCAATTATAAAAAGCAACAAAGAAGGGGCCAGATGTGGTGGCTCACGCCTGTAATCCCAGCCCTTGGGGAGGCAGGGGCAGGTGGATGACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGCGGCTGAGGCAGGAGACTTGCTTGAACCCAGGAGGCGGAGGATGCAGTGAGCC | CA645604018 | SLC35A2 | c.1163+61_1163+62insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC (n.1163+61_1163+62insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC) c.562_563insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC (p.Val188GlyfsTer21) c.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC (n.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC) c.573+61_573+62insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC (n.573+61_573+62insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC) c.786_787insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC c.634_635insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC (p.Val212GlyfsTer21) c.425-1220_425-1219insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC c.*1118_*1119insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC (n.*1118_*1119insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC) | COSMIC COSMIC |
X | g.48904685C>A | CA412893798 | SLC35A2 | c.1163+61G>T (n.1163+61G>T) c.562G>T (p.Val188Leu) c.*42G>T (n.*42G>T) c.573+61G>T (n.573+61G>T) c.786G>T c.634G>T (p.Val212Leu) c.425-1220G>T c.*1118G>T (n.*1118G>T) | gnomAD v4 |
X | g.48904685C= | CA2428428731 | SLC35A2 | c.1163+61G= (n.1163+61G=) c.562G= (p.Val188=) c.*42G= (n.*42G=) c.573+61G= (n.573+61G=) c.786G= c.634G= (p.Val212=) c.425-1220G= c.*1118G= (n.*1118G=) | |
X | g.48904685C>G | CA412893799 | SLC35A2 | c.1163+61G>C (n.1163+61G>C) c.562G>C (p.Val188Leu) c.*42G>C (n.*42G>C) c.573+61G>C (n.573+61G>C) c.786G>C c.634G>C (p.Val212Leu) c.425-1220G>C c.*1118G>C (n.*1118G>C) | |
X | g.48904685C>T | CA412893800 | SLC35A2 | c.1163+61G>A (n.1163+61G>A) c.562G>A (p.Val188Met) c.*42G>A (n.*42G>A) c.573+61G>A (n.573+61G>A) c.786G>A c.634G>A (p.Val212Met) c.425-1220G>A c.*1118G>A (n.*1118G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904686C= | CA2428428732 | SLC35A2 | c.1163+60G= (n.1163+60G=) c.561G= (p.Gly187=) c.*41G= (n.*41G=) c.573+60G= (n.573+60G=) c.785G= c.633G= (p.Gly211=) c.425-1221G= c.*1117G= (n.*1117G=) | |
X | g.48904686C>G | CA641902146 | SLC35A2 | c.1163+60G>C (n.1163+60G>C) c.561G>C (p.Gly187=) c.*41G>C (n.*41G>C) c.573+60G>C (n.573+60G>C) c.785G>C c.633G>C (p.Gly211=) c.425-1221G>C c.*1117G>C (n.*1117G>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904686C>T | CA913184191 | SLC35A2 | c.1163+60G>A (n.1163+60G>A) c.561G>A (p.Gly187=) c.*41G>A (n.*41G>A) c.573+60G>A (n.573+60G>A) c.785G>A c.633G>A (p.Gly211=) c.425-1221G>A c.*1117G>A (n.*1117G>A) | gnomAD v4 |
X | g.48904687C>A | CA412893801 | SLC35A2 | c.1163+59G>T (n.1163+59G>T) c.560G>T (p.Gly187Val) c.*40G>T (n.*40G>T) c.573+59G>T (n.573+59G>T) c.784G>T c.632G>T (p.Gly211Val) c.425-1222G>T c.*1116G>T (n.*1116G>T) | |
X | g.48904687C>G | CA412893803 | SLC35A2 | c.1163+59G>C (n.1163+59G>C) c.560G>C (p.Gly187Ala) c.*40G>C (n.*40G>C) c.573+59G>C (n.573+59G>C) c.784G>C c.632G>C (p.Gly211Ala) c.425-1222G>C c.*1116G>C (n.*1116G>C) | |
X | g.48904687C>T | CA412893802 | SLC35A2 | c.1163+59G>A (n.1163+59G>A) c.560G>A (p.Gly187Glu) c.*40G>A (n.*40G>A) c.573+59G>A (n.573+59G>A) c.784G>A c.632G>A (p.Gly211Glu) c.425-1222G>A c.*1116G>A (n.*1116G>A) | |
X | g.48904687_48904689delinsCCA | CA2428428733 | SLC35A2 | c.1163+57_1163+59delinsTGG (n.1163+57_1163+59delinsTGG) c.558_560delinsTGG (p.Thr186=) c.*38_*40delinsTGG (n.*38_*40delinsTGG) c.573+57_573+59delinsTGG (n.573+57_573+59delinsTGG) c.782_784delinsTGG c.630_632delinsTGG (p.Thr210=) c.425-1224_425-1222delinsTGG c.*1114_*1116delinsTGG (n.*1114_*1116delinsTGG) | |
X | g.48904688C>A | CA412893804 | SLC35A2 | c.1163+58G>T (n.1163+58G>T) c.559G>T (p.Gly187Trp) c.*39G>T (n.*39G>T) c.573+58G>T (n.573+58G>T) c.783G>T c.631G>T (p.Gly211Trp) c.425-1223G>T c.*1115G>T (n.*1115G>T) | |
X | g.48904688C= | CA2428428735 | SLC35A2 | c.1163+58G= (n.1163+58G=) c.559G= (p.Gly187=) c.*39G= (n.*39G=) c.573+58G= (n.573+58G=) c.783G= c.631G= (p.Gly211=) c.425-1223G= c.*1115G= (n.*1115G=) | |
X | g.48904688C>G | CA412893805 | SLC35A2 | c.1163+58G>C (n.1163+58G>C) c.559G>C (p.Gly187Arg) c.*39G>C (n.*39G>C) c.573+58G>C (n.573+58G>C) c.783G>C c.631G>C (p.Gly211Arg) c.425-1223G>C c.*1115G>C (n.*1115G>C) | dbSNP |
X | g.48904688C>T | CA412893806 | SLC35A2 | c.1163+58G>A (n.1163+58G>A) c.559G>A (p.Gly187Arg) c.*39G>A (n.*39G>A) c.573+58G>A (n.573+58G>A) c.783G>A c.631G>A (p.Gly211Arg) c.425-1223G>A c.*1115G>A (n.*1115G>A) | |
X | g.48904688_48904689del | CA2428428734 | SLC35A2 | c.1163+57_1163+58del (n.1163+57_1163+58del) c.558_559del (p.Val188GlyfsTer?) c.*38_*39del (n.*38_*39del) c.573+57_573+58del (n.573+57_573+58del) c.782_783del c.630_631del (p.Val212GlyfsTer?) c.425-1224_425-1223del c.*1114_*1115del (n.*1114_*1115del) | dbSNP |
X | g.48904689A>C | CA2579602945 | SLC35A2 | c.1163+57T>G (n.1163+57T>G) c.558T>G (p.Thr186=) c.*38T>G (n.*38T>G) c.573+57T>G (n.573+57T>G) c.782T>G c.630T>G (p.Thr210=) c.425-1224T>G c.*1114T>G (n.*1114T>G) | |
X | g.48904689_48904691del | CA1139769809 | SLC35A2 | c.1163+55_1163+57del (n.1163+55_1163+57del) c.556_558del (p.Thr186del) c.*36_*38del (n.*36_*38del) c.573+55_573+57del (n.573+55_573+57del) c.780_782del c.628_630del (p.Thr210del) c.425-1226_425-1224del c.*1112_*1114del (n.*1112_*1114del) | |
X | g.48904690G>A | CA412893807 | SLC35A2 | c.1163+56C>T (n.1163+56C>T) c.557C>T (p.Thr186Ile) c.*37C>T (n.*37C>T) c.573+56C>T (n.573+56C>T) c.781C>T c.629C>T (p.Thr210Ile) c.425-1225C>T c.*1113C>T (n.*1113C>T) | dbSNP |
X | g.48904690G>C | CA412893808 | SLC35A2 | c.1163+56C>G (n.1163+56C>G) c.557C>G (p.Thr186Ser) c.*37C>G (n.*37C>G) c.573+56C>G (n.573+56C>G) c.781C>G c.629C>G (p.Thr210Ser) c.425-1225C>G c.*1113C>G (n.*1113C>G) | |
X | g.48904690G= | CA2428428736 | SLC35A2 | c.1163+56C= (n.1163+56C=) c.557C= (p.Thr186=) c.*37C= (n.*37C=) c.573+56C= (n.573+56C=) c.781C= c.629C= (p.Thr210=) c.425-1225C= c.*1113C= (n.*1113C=) | |
X | g.48904690G>T | CA412893809 | SLC35A2 | c.1163+56C>A (n.1163+56C>A) c.557C>A (p.Thr186Asn) c.*37C>A (n.*37C>A) c.573+56C>A (n.573+56C>A) c.781C>A c.629C>A (p.Thr210Asn) c.425-1225C>A c.*1113C>A (n.*1113C>A) | |
X | g.48904691del | CA2693665040 | SLC35A2 | c.1163+55del (n.1163+55del) c.556del (p.Thr186LeufsTer?) c.*36del (n.*36del) c.573+55del (n.573+55del) c.780del c.628del (p.Thr210LeufsTer?) c.425-1226del c.*1112del (n.*1112del) | gnomAD v4 |
X | g.48904691T>A | CA412893810 | SLC35A2 | c.1163+55A>T (n.1163+55A>T) c.556A>T (p.Thr186Ser) c.*36A>T (n.*36A>T) c.573+55A>T (n.573+55A>T) c.780A>T c.628A>T (p.Thr210Ser) c.425-1226A>T c.*1112A>T (n.*1112A>T) | |
X | g.48904691T>C | CA412893811 | SLC35A2 | c.1163+55A>G (n.1163+55A>G) c.556A>G (p.Thr186Ala) c.*36A>G (n.*36A>G) c.573+55A>G (n.573+55A>G) c.780A>G c.628A>G (p.Thr210Ala) c.425-1226A>G c.*1112A>G (n.*1112A>G) | |
X | g.48904691T>G | CA412893812 | SLC35A2 | c.1163+55A>C (n.1163+55A>C) c.556A>C (p.Thr186Pro) c.*36A>C (n.*36A>C) c.573+55A>C (n.573+55A>C) c.780A>C c.628A>C (p.Thr210Pro) c.425-1226A>C c.*1112A>C (n.*1112A>C) | dbSNP |
X | g.48904691T= | CA2428428738 | SLC35A2 | c.1163+55A= (n.1163+55A=) c.556A= (p.Thr186=) c.*36A= (n.*36A=) c.573+55A= (n.573+55A=) c.780A= c.628A= (p.Thr210=) c.425-1226A= c.*1112A= (n.*1112A=) | |
X | g.48904691_48904692delinsTC | CA2428428737 | SLC35A2 | c.1163+54_1163+55delinsGA (n.1163+54_1163+55delinsGA) c.555_556delinsGA (p.Gly185=) c.*35_*36delinsGA (n.*35_*36delinsGA) c.573+54_573+55delinsGA (n.573+54_573+55delinsGA) c.779_780delinsGA c.627_628delinsGA (p.Gly209=) c.425-1227_425-1226delinsGA c.*1111_*1112delinsGA (n.*1111_*1112delinsGA) | |
X | g.48904692C>A | CA2564509826 | SLC35A2 | c.1163+54G>T (n.1163+54G>T) c.555G>T (p.Gly185=) c.*35G>T (n.*35G>T) c.573+54G>T (n.573+54G>T) c.779G>T c.627G>T (p.Gly209=) c.425-1227G>T c.*1111G>T (n.*1111G>T) | gnomAD v4 |
X | g.48904692C= | CA2428428739 | SLC35A2 | c.1163+54G= (n.1163+54G=) c.555G= (p.Gly185=) c.*35G= (n.*35G=) c.573+54G= (n.573+54G=) c.779G= c.627G= (p.Gly209=) c.425-1227G= c.*1111G= (n.*1111G=) | |
X | g.48904692C>G | CA2693665042 | SLC35A2 | c.1163+54G>C (n.1163+54G>C) c.555G>C (p.Gly185=) c.*35G>C (n.*35G>C) c.573+54G>C (n.573+54G>C) c.779G>C c.627G>C (p.Gly209=) c.425-1227G>C c.*1111G>C (n.*1111G>C) | gnomAD v4 |
X | g.48904692C>T | CA2428428740 | SLC35A2 | c.1163+54G>A (n.1163+54G>A) c.555G>A (p.Gly185=) c.*35G>A (n.*35G>A) c.573+54G>A (n.573+54G>A) c.779G>A c.627G>A (p.Gly209=) c.425-1227G>A c.*1111G>A (n.*1111G>A) | dbSNP |
X | g.48904696dup | CA2693665041 | SLC35A2 | c.1163+54dup (n.1163+54dup) c.555dup (p.Thr186AspfsTer?) c.*35dup (n.*35dup) c.573+54dup (n.573+54dup) c.779dup c.627dup (p.Thr210AspfsTer?) c.425-1227dup c.*1111dup (n.*1111dup) | gnomAD v4 |
X | g.48904696del | CA10406034 | SLC35A2 | c.1163+54del (n.1163+54del) c.555del (p.Thr186LeufsTer?) c.*35del (n.*35del) c.573+54del (n.573+54del) c.779del c.627del (p.Thr210LeufsTer?) c.425-1227del c.*1111del (n.*1111del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904693C>A | CA412893814 | SLC35A2 | c.1163+53G>T (n.1163+53G>T) c.554G>T (p.Gly185Val) c.*34G>T (n.*34G>T) c.573+53G>T (n.573+53G>T) c.778G>T c.626G>T (p.Gly209Val) c.425-1228G>T c.*1110G>T (n.*1110G>T) | |
X | g.48904693C= | CA2428428741 | SLC35A2 | c.1163+53G= (n.1163+53G=) c.554G= (p.Gly185=) c.*34G= (n.*34G=) c.573+53G= (n.573+53G=) c.778G= c.626G= (p.Gly209=) c.425-1228G= c.*1110G= (n.*1110G=) | |
X | g.48904693C>G | CA412893813 | SLC35A2 | c.1163+53G>C (n.1163+53G>C) c.554G>C (p.Gly185Ala) c.*34G>C (n.*34G>C) c.573+53G>C (n.573+53G>C) c.778G>C c.626G>C (p.Gly209Ala) c.425-1228G>C c.*1110G>C (n.*1110G>C) | gnomAD v4 |
X | g.48904693C>T | CA10406035 | SLC35A2 | c.1163+53G>A (n.1163+53G>A) c.554G>A (p.Gly185Glu) c.*34G>A (n.*34G>A) c.573+53G>A (n.573+53G>A) c.778G>A c.626G>A (p.Gly209Glu) c.425-1228G>A c.*1110G>A (n.*1110G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.48904694C>A | CA412893815 | SLC35A2 | c.1163+52G>T (n.1163+52G>T) c.553G>T (p.Gly185Trp) c.*33G>T (n.*33G>T) c.573+52G>T (n.573+52G>T) c.777G>T c.625G>T (p.Gly209Trp) c.425-1229G>T c.*1109G>T (n.*1109G>T) | dbSNP gnomAD v4 |
X | g.48904694C= | CA2428428742 | SLC35A2 | c.1163+52G= (n.1163+52G=) c.553G= (p.Gly185=) c.*33G= (n.*33G=) c.573+52G= (n.573+52G=) c.777G= c.625G= (p.Gly209=) c.425-1229G= c.*1109G= (n.*1109G=) | |
X | g.48904694C>G | CA412893816 | SLC35A2 | c.1163+52G>C (n.1163+52G>C) c.553G>C (p.Gly185Arg) c.*33G>C (n.*33G>C) c.573+52G>C (n.573+52G>C) c.777G>C c.625G>C (p.Gly209Arg) c.425-1229G>C c.*1109G>C (n.*1109G>C) | |
X | g.48904694C>T | CA412893817 | SLC35A2 | c.1163+52G>A (n.1163+52G>A) c.553G>A (p.Gly185Arg) c.*33G>A (n.*33G>A) c.573+52G>A (n.573+52G>A) c.777G>A c.625G>A (p.Gly209Arg) c.425-1229G>A c.*1109G>A (n.*1109G>A) | |
X | g.48904695C>A | CA412893818 | SLC35A2 | c.1163+51G>T (n.1163+51G>T) c.552G>T (p.Arg184Ser) c.*32G>T (n.*32G>T) c.573+51G>T (n.573+51G>T) c.776G>T c.624G>T (p.Arg208Ser) c.425-1230G>T c.*1108G>T (n.*1108G>T) | |
X | g.48904695C>G | CA412893819 | SLC35A2 | c.1163+51G>C (n.1163+51G>C) c.552G>C (p.Arg184Ser) c.*32G>C (n.*32G>C) c.573+51G>C (n.573+51G>C) c.776G>C c.624G>C (p.Arg208Ser) c.425-1230G>C c.*1108G>C (n.*1108G>C) | |
X | g.48904696C>A | CA412893820 | SLC35A2 | c.1163+50G>T (n.1163+50G>T) c.551G>T (p.Arg184Met) c.*31G>T (n.*31G>T) c.573+50G>T (n.573+50G>T) c.775G>T c.623G>T (p.Arg208Met) c.425-1231G>T c.*1107G>T (n.*1107G>T) | |
X | g.48904696C>G | CA412893821 | SLC35A2 | c.1163+50G>C (n.1163+50G>C) c.551G>C (p.Arg184Thr) c.*31G>C (n.*31G>C) c.573+50G>C (n.573+50G>C) c.775G>C c.623G>C (p.Arg208Thr) c.425-1231G>C c.*1107G>C (n.*1107G>C) | |
X | g.48904696C>T | CA412893822 | SLC35A2 | c.1163+50G>A (n.1163+50G>A) c.551G>A (p.Arg184Lys) c.*31G>A (n.*31G>A) c.573+50G>A (n.573+50G>A) c.775G>A c.623G>A (p.Arg208Lys) c.425-1231G>A c.*1107G>A (n.*1107G>A) | gnomAD v4 |
X | g.48904697T>A | CA412893823 | SLC35A2 | c.1163+49A>T (n.1163+49A>T) c.550A>T (p.Arg184Trp) c.*30A>T (n.*30A>T) c.573+49A>T (n.573+49A>T) c.774A>T c.622A>T (p.Arg208Trp) c.425-1232A>T c.*1106A>T (n.*1106A>T) | |
X | g.48904697T>C | CA412893824 | SLC35A2 | c.1163+49A>G (n.1163+49A>G) c.550A>G (p.Arg184Gly) c.*30A>G (n.*30A>G) c.573+49A>G (n.573+49A>G) c.774A>G c.622A>G (p.Arg208Gly) c.425-1232A>G c.*1106A>G (n.*1106A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904697T= | CA2428428743 | SLC35A2 | c.1163+49A= (n.1163+49A=) c.550A= (p.Arg184=) c.*30A= (n.*30A=) c.573+49A= (n.573+49A=) c.774A= c.622A= (p.Arg208=) c.425-1232A= c.*1106A= (n.*1106A=) | |
X | g.48904698C= | CA2428428745 | SLC35A2 | c.1163+48G= (n.1163+48G=) c.549G= (p.Gly183=) c.*29G= (n.*29G=) c.573+48G= (n.573+48G=) c.773G= c.621G= (p.Gly207=) c.425-1233G= c.*1105G= (n.*1105G=) | |
X | g.48904698_48904702delinsCCCTT | CA2428428744 | SLC35A2 | c.1163+44_1163+48delinsAAGGG (n.1163+44_1163+48delinsAAGGG) c.545_549delinsAAGGG (p.Gln182=) c.*25_*29delinsAAGGG (n.*25_*29delinsAAGGG) c.573+44_573+48delinsAAGGG (n.573+44_573+48delinsAAGGG) c.769_773delinsAAGGG c.617_621delinsAAGGG (p.Gln206=) c.425-1237_425-1233delinsAAGGG c.*1101_*1105delinsAAGGG (n.*1101_*1105delinsAAGGG) | |
X | g.48904698_48904712dup | CA2820821156 | SLC35A2 | c.1163+34_1163+48dup (n.1163+34_1163+48dup) c.535_549dup (p.Gly183_Arg184insGlyGlyThrGlnGly) c.*15_*29dup (n.*15_*29dup) c.573+34_573+48dup (n.573+34_573+48dup) c.759_773dup c.607_621dup (p.Gly207_Arg208insGlyGlyThrGlnGly) c.425-1247_425-1233dup c.*1091_*1105dup (n.*1091_*1105dup) | |
X | g.48904699C>A | CA412893825 | SLC35A2 | c.1163+47G>T (n.1163+47G>T) c.548G>T (p.Gly183Val) c.*28G>T (n.*28G>T) c.573+47G>T (n.573+47G>T) c.772G>T c.620G>T (p.Gly207Val) c.425-1234G>T c.*1104G>T (n.*1104G>T) | gnomAD v4 |
X | g.48904699C= | CA2428428747 | SLC35A2 | c.1163+47G= (n.1163+47G=) c.548G= (p.Gly183=) c.*28G= (n.*28G=) c.573+47G= (n.573+47G=) c.772G= c.620G= (p.Gly207=) c.425-1234G= c.*1104G= (n.*1104G=) | |
X | g.48904699C>G | CA412893826 | SLC35A2 | c.1163+47G>C (n.1163+47G>C) c.548G>C (p.Gly183Ala) c.*28G>C (n.*28G>C) c.573+47G>C (n.573+47G>C) c.772G>C c.620G>C (p.Gly207Ala) c.425-1234G>C c.*1104G>C (n.*1104G>C) | |
X | g.48904699C>T | CA412893827 | SLC35A2 | c.1163+47G>A (n.1163+47G>A) c.548G>A (p.Gly183Glu) c.*28G>A (n.*28G>A) c.573+47G>A (n.573+47G>A) c.772G>A c.620G>A (p.Gly207Glu) c.425-1234G>A c.*1104G>A (n.*1104G>A) | dbSNP |
X | g.48904699_48904702del | CA10406036 | SLC35A2 | c.1163+44_1163+47del (n.1163+44_1163+47del) c.545_548del (p.Gln182ArgfsTer?) c.*25_*28del (n.*25_*28del) c.573+44_573+47del (n.573+44_573+47del) c.769_772del c.617_620del (p.Gln206ArgfsTer?) c.425-1237_425-1234del c.*1101_*1104del (n.*1101_*1104del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904699_48904702dup | CA2428428746 | SLC35A2 | c.1163+44_1163+47dup (n.1163+44_1163+47dup) c.545_548dup (p.Gly185GlufsTer?) c.*25_*28dup (n.*25_*28dup) c.573+44_573+47dup (n.573+44_573+47dup) c.769_772dup c.617_620dup (p.Gly209GlufsTer?) c.425-1237_425-1234dup c.*1101_*1104dup (n.*1101_*1104dup) | dbSNP |
X | g.48904700C>A | CA412893829 | SLC35A2 | c.1163+46G>T (n.1163+46G>T) c.547G>T (p.Gly183Trp) c.*27G>T (n.*27G>T) c.573+46G>T (n.573+46G>T) c.771G>T c.619G>T (p.Gly207Trp) c.425-1235G>T c.*1103G>T (n.*1103G>T) | |
X | g.48904700C= | CA2428428748 | SLC35A2 | c.1163+46G= (n.1163+46G=) c.547G= (p.Gly183=) c.*27G= (n.*27G=) c.573+46G= (n.573+46G=) c.771G= c.619G= (p.Gly207=) c.425-1235G= c.*1103G= (n.*1103G=) | |
X | g.48904700C>G | CA412893828 | SLC35A2 | c.1163+46G>C (n.1163+46G>C) c.547G>C (p.Gly183Arg) c.*27G>C (n.*27G>C) c.573+46G>C (n.573+46G>C) c.771G>C c.619G>C (p.Gly207Arg) c.425-1235G>C c.*1103G>C (n.*1103G>C) | |
X | g.48904700C>T | CA10406037 | SLC35A2 | c.1163+46G>A (n.1163+46G>A) c.547G>A (p.Gly183Arg) c.*27G>A (n.*27G>A) c.573+46G>A (n.573+46G>A) c.771G>A c.619G>A (p.Gly207Arg) c.425-1235G>A c.*1103G>A (n.*1103G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904701T>A | CA412893830 | SLC35A2 | c.1163+45A>T (n.1163+45A>T) c.546A>T (p.Gln182His) c.*26A>T (n.*26A>T) c.573+45A>T (n.573+45A>T) c.770A>T c.618A>T (p.Gln206His) c.425-1236A>T c.*1102A>T (n.*1102A>T) | |
X | g.48904701T>C | CA2565736431 | SLC35A2 | c.1163+45A>G (n.1163+45A>G) c.546A>G (p.Gln182=) c.*26A>G (n.*26A>G) c.573+45A>G (n.573+45A>G) c.770A>G c.618A>G (p.Gln206=) c.425-1236A>G c.*1102A>G (n.*1102A>G) | dbSNP |
X | g.48904701T>G | CA412893831 | SLC35A2 | c.1163+45A>C (n.1163+45A>C) c.546A>C (p.Gln182His) c.*26A>C (n.*26A>C) c.573+45A>C (n.573+45A>C) c.770A>C c.618A>C (p.Gln206His) c.425-1236A>C c.*1102A>C (n.*1102A>C) | |
X | g.48904702T>A | CA412893832 | SLC35A2 | c.1163+44A>T (n.1163+44A>T) c.545A>T (p.Gln182Leu) c.*25A>T (n.*25A>T) c.573+44A>T (n.573+44A>T) c.769A>T c.617A>T (p.Gln206Leu) c.425-1237A>T c.*1101A>T (n.*1101A>T) | |
X | g.48904702T>C | CA412893833 | SLC35A2 | c.1163+44A>G (n.1163+44A>G) c.545A>G (p.Gln182Arg) c.*25A>G (n.*25A>G) c.573+44A>G (n.573+44A>G) c.769A>G c.617A>G (p.Gln206Arg) c.425-1237A>G c.*1101A>G (n.*1101A>G) | gnomAD v4 |
X | g.48904702T>G | CA412893834 | SLC35A2 | c.1163+44A>C (n.1163+44A>C) c.545A>C (p.Gln182Pro) c.*25A>C (n.*25A>C) c.573+44A>C (n.573+44A>C) c.769A>C c.617A>C (p.Gln206Pro) c.425-1237A>C c.*1101A>C (n.*1101A>C) | |
X | g.48904703G>A | CA412893835 | SLC35A2 | c.1163+43C>T (n.1163+43C>T) c.544C>T (p.Gln182Ter) c.*24C>T (n.*24C>T) c.573+43C>T (n.573+43C>T) c.768C>T c.616C>T (p.Gln206Ter) c.425-1238C>T c.*1100C>T (n.*1100C>T) | |
X | g.48904703G>C | CA412893836 | SLC35A2 | c.1163+43C>G (n.1163+43C>G) c.544C>G (p.Gln182Glu) c.*24C>G (n.*24C>G) c.573+43C>G (n.573+43C>G) c.768C>G c.616C>G (p.Gln206Glu) c.425-1238C>G c.*1100C>G (n.*1100C>G) | |
X | g.48904703G>T | CA412893837 | SLC35A2 | c.1163+43C>A (n.1163+43C>A) c.544C>A (p.Gln182Lys) c.*24C>A (n.*24C>A) c.573+43C>A (n.573+43C>A) c.768C>A c.616C>A (p.Gln206Lys) c.425-1238C>A c.*1100C>A (n.*1100C>A) | |
X | g.48904704T>G | CA2820821157 | SLC35A2 | c.1163+42A>C (n.1163+42A>C) c.543A>C (p.Thr181=) c.*23A>C (n.*23A>C) c.573+42A>C (n.573+42A>C) c.767A>C c.615A>C (p.Thr205=) c.425-1239A>C c.*1099A>C (n.*1099A>C) | |
X | g.48904705G>A | CA412893838 | SLC35A2 | c.1163+41C>T (n.1163+41C>T) c.542C>T (p.Thr181Ile) c.*22C>T (n.*22C>T) c.573+41C>T (n.573+41C>T) c.766C>T c.614C>T (p.Thr205Ile) c.425-1240C>T c.*1098C>T (n.*1098C>T) | |
X | g.48904705G>C | CA412893839 | SLC35A2 | c.1163+41C>G (n.1163+41C>G) c.542C>G (p.Thr181Arg) c.*22C>G (n.*22C>G) c.573+41C>G (n.573+41C>G) c.766C>G c.614C>G (p.Thr205Arg) c.425-1240C>G c.*1098C>G (n.*1098C>G) | |
X | g.48904705G>T | CA412893840 | SLC35A2 | c.1163+41C>A (n.1163+41C>A) c.542C>A (p.Thr181Lys) c.*22C>A (n.*22C>A) c.573+41C>A (n.573+41C>A) c.766C>A c.614C>A (p.Thr205Lys) c.425-1240C>A c.*1098C>A (n.*1098C>A) | |
X | g.48904706T>A | CA412893843 | SLC35A2 | c.1163+40A>T (n.1163+40A>T) c.541A>T (p.Thr181Ser) c.*21A>T (n.*21A>T) c.573+40A>T (n.573+40A>T) c.765A>T c.613A>T (p.Thr205Ser) c.425-1241A>T c.*1097A>T (n.*1097A>T) | |
X | g.48904706T>C | CA412893842 | SLC35A2 | c.1163+40A>G (n.1163+40A>G) c.541A>G (p.Thr181Ala) c.*21A>G (n.*21A>G) c.573+40A>G (n.573+40A>G) c.765A>G c.613A>G (p.Thr205Ala) c.425-1241A>G c.*1097A>G (n.*1097A>G) | |
X | g.48904706T>G | CA412893841 | SLC35A2 | c.1163+40A>C (n.1163+40A>C) c.541A>C (p.Thr181Pro) c.*21A>C (n.*21A>C) c.573+40A>C (n.573+40A>C) c.765A>C c.613A>C (p.Thr205Pro) c.425-1241A>C c.*1097A>C (n.*1097A>C) | |
X | g.48904706_48904707delinsTC | CA2428428749 | SLC35A2 | c.1163+39_1163+40delinsGA (n.1163+39_1163+40delinsGA) c.540_541delinsGA (p.Gly180=) c.*20_*21delinsGA (n.*20_*21delinsGA) c.573+39_573+40delinsGA (n.573+39_573+40delinsGA) c.764_765delinsGA c.612_613delinsGA (p.Gly204=) c.425-1242_425-1241delinsGA c.*1096_*1097delinsGA (n.*1096_*1097delinsGA) | |
X | g.48904707C>A | CA10406040 | SLC35A2 | c.1163+39G>T (n.1163+39G>T) c.540G>T (p.Gly180=) c.*20G>T (n.*20G>T) c.573+39G>T (n.573+39G>T) c.764G>T c.612G>T (p.Gly204=) c.425-1242G>T c.*1096G>T (n.*1096G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48904707C= | CA2428428750 | SLC35A2 | c.1163+39G= (n.1163+39G=) c.540G= (p.Gly180=) c.*20G= (n.*20G=) c.573+39G= (n.573+39G=) c.764G= c.612G= (p.Gly204=) c.425-1242G= c.*1096G= (n.*1096G=) | |
X | g.48904707C>G | CA10406039 | SLC35A2 | c.1163+39G>C (n.1163+39G>C) c.540G>C (p.Gly180=) c.*20G>C (n.*20G>C) c.573+39G>C (n.573+39G>C) c.764G>C c.612G>C (p.Gly204=) c.425-1242G>C c.*1096G>C (n.*1096G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904707C>T | CA2693665043 | SLC35A2 | c.1163+39G>A (n.1163+39G>A) c.540G>A (p.Gly180=) c.*20G>A (n.*20G>A) c.573+39G>A (n.573+39G>A) c.764G>A c.612G>A (p.Gly204=) c.425-1242G>A c.*1096G>A (n.*1096G>A) | gnomAD v4 |
X | g.48904712del | CA10406038 | SLC35A2 | c.1163+39del (n.1163+39del) c.540del (p.Thr181HisfsTer?) c.*20del (n.*20del) c.573+39del (n.573+39del) c.764del c.612del (p.Thr205HisfsTer?) c.425-1242del c.*1096del (n.*1096del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904708C>A | CA412893844 | SLC35A2 | c.1163+38G>T (n.1163+38G>T) c.539G>T (p.Gly180Val) c.*19G>T (n.*19G>T) c.573+38G>T (n.573+38G>T) c.763G>T c.611G>T (p.Gly204Val) c.425-1243G>T c.*1095G>T (n.*1095G>T) | |
X | g.48904708C= | CA2428428751 | SLC35A2 | c.1163+38G= (n.1163+38G=) c.539G= (p.Gly180=) c.*19G= (n.*19G=) c.573+38G= (n.573+38G=) c.763G= c.611G= (p.Gly204=) c.425-1243G= c.*1095G= (n.*1095G=) | |
X | g.48904708C>G | CA412893845 | SLC35A2 | c.1163+38G>C (n.1163+38G>C) c.539G>C (p.Gly180Ala) c.*19G>C (n.*19G>C) c.573+38G>C (n.573+38G>C) c.763G>C c.611G>C (p.Gly204Ala) c.425-1243G>C c.*1095G>C (n.*1095G>C) | |
X | g.48904708C>T | CA412893846 | SLC35A2 | c.1163+38G>A (n.1163+38G>A) c.539G>A (p.Gly180Glu) c.*19G>A (n.*19G>A) c.573+38G>A (n.573+38G>A) c.763G>A c.611G>A (p.Gly204Glu) c.425-1243G>A c.*1095G>A (n.*1095G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48904709C>A | CA412893847 | SLC35A2 | c.1163+37G>T (n.1163+37G>T) c.538G>T (p.Gly180Trp) c.*18G>T (n.*18G>T) c.573+37G>T (n.573+37G>T) c.762G>T c.610G>T (p.Gly204Trp) c.425-1244G>T c.*1094G>T (n.*1094G>T) | |
X | g.48904709C>G | CA412893848 | SLC35A2 | c.1163+37G>C (n.1163+37G>C) c.538G>C (p.Gly180Arg) c.*18G>C (n.*18G>C) c.573+37G>C (n.573+37G>C) c.762G>C c.610G>C (p.Gly204Arg) c.425-1244G>C c.*1094G>C (n.*1094G>C) | |
X | g.48904709C>T | CA412893849 | SLC35A2 | c.1163+37G>A (n.1163+37G>A) c.538G>A (p.Gly180Arg) c.*18G>A (n.*18G>A) c.573+37G>A (n.573+37G>A) c.762G>A c.610G>A (p.Gly204Arg) c.425-1244G>A c.*1094G>A (n.*1094G>A) | |
X | g.48904710C= | CA2428428752 | SLC35A2 | c.1163+36G= (n.1163+36G=) c.537G= (p.Gly179=) c.*17G= (n.*17G=) c.573+36G= (n.573+36G=) c.761G= c.609G= (p.Gly203=) c.425-1245G= c.*1093G= (n.*1093G=) | |
X | g.48904710C>T | CA641902147 | SLC35A2 | c.1163+36G>A (n.1163+36G>A) c.537G>A (p.Gly179=) c.*17G>A (n.*17G>A) c.573+36G>A (n.573+36G>A) c.761G>A c.609G>A (p.Gly203=) c.425-1245G>A c.*1093G>A (n.*1093G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904711C>A | CA10406041 | SLC35A2 | c.1163+35G>T (n.1163+35G>T) c.536G>T (p.Gly179Val) c.*16G>T (n.*16G>T) c.573+35G>T (n.573+35G>T) c.760G>T c.608G>T (p.Gly203Val) c.425-1246G>T c.*1092G>T (n.*1092G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.48904711C= | CA2428428753 | SLC35A2 | c.1163+35G= (n.1163+35G=) c.536G= (p.Gly179=) c.*16G= (n.*16G=) c.573+35G= (n.573+35G=) c.760G= c.608G= (p.Gly203=) c.425-1246G= c.*1092G= (n.*1092G=) | |
X | g.48904711C>G | CA412893850 | SLC35A2 | c.1163+35G>C (n.1163+35G>C) c.536G>C (p.Gly179Ala) c.*16G>C (n.*16G>C) c.573+35G>C (n.573+35G>C) c.760G>C c.608G>C (p.Gly203Ala) c.425-1246G>C c.*1092G>C (n.*1092G>C) | |
X | g.48904711C>T | CA412893851 | SLC35A2 | c.1163+35G>A (n.1163+35G>A) c.536G>A (p.Gly179Glu) c.*16G>A (n.*16G>A) c.573+35G>A (n.573+35G>A) c.760G>A c.608G>A (p.Gly203Glu) c.425-1246G>A c.*1092G>A (n.*1092G>A) | |
X | g.48904712C>A | CA412893852 | SLC35A2 | c.1163+34G>T (n.1163+34G>T) c.535G>T (p.Gly179Trp) c.*15G>T (n.*15G>T) c.573+34G>T (n.573+34G>T) c.759G>T c.607G>T (p.Gly203Trp) c.425-1247G>T c.*1091G>T (n.*1091G>T) | |
X | g.48904712C= | CA2428428754 | SLC35A2 | c.1163+34G= (n.1163+34G=) c.535G= (p.Gly179=) c.*15G= (n.*15G=) c.573+34G= (n.573+34G=) c.759G= c.607G= (p.Gly203=) c.425-1247G= c.*1091G= (n.*1091G=) | |
X | g.48904712C>G | CA412893853 | SLC35A2 | c.1163+34G>C (n.1163+34G>C) c.535G>C (p.Gly179Arg) c.*15G>C (n.*15G>C) c.573+34G>C (n.573+34G>C) c.759G>C c.607G>C (p.Gly203Arg) c.425-1247G>C c.*1091G>C (n.*1091G>C) | |
X | g.48904712C>T | CA10406042 | SLC35A2 | c.1163+34G>A (n.1163+34G>A) c.535G>A (p.Gly179Arg) c.*15G>A (n.*15G>A) c.573+34G>A (n.573+34G>A) c.759G>A c.607G>A (p.Gly203Arg) c.425-1247G>A c.*1091G>A (n.*1091G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904713A>C | CA412893854 | SLC35A2 | c.1163+33T>G (n.1163+33T>G) c.534T>G (p.Asn178Lys) c.*14T>G (n.*14T>G) c.573+33T>G (n.573+33T>G) c.758T>G c.606T>G (p.Asn202Lys) c.425-1248T>G c.*1090T>G (n.*1090T>G) | gnomAD v3 gnomAD v4 |
X | g.48904713A>G | CA913184192 | SLC35A2 | c.1163+33T>C (n.1163+33T>C) c.534T>C (p.Asn178=) c.*14T>C (n.*14T>C) c.573+33T>C (n.573+33T>C) c.758T>C c.606T>C (p.Asn202=) c.425-1248T>C c.*1090T>C (n.*1090T>C) | |
X | g.48904713A>T | CA412893855 | SLC35A2 | c.1163+33T>A (n.1163+33T>A) c.534T>A (p.Asn178Lys) c.*14T>A (n.*14T>A) c.573+33T>A (n.573+33T>A) c.758T>A c.606T>A (p.Asn202Lys) c.425-1248T>A c.*1090T>A (n.*1090T>A) | |
X | g.48904714T>A | CA412893856 | SLC35A2 | c.1163+32A>T (n.1163+32A>T) c.533A>T (p.Asn178Ile) c.*13A>T (n.*13A>T) c.573+32A>T (n.573+32A>T) c.757A>T c.605A>T (p.Asn202Ile) c.425-1249A>T c.*1089A>T (n.*1089A>T) | |
X | g.48904714T>C | CA412893857 | SLC35A2 | c.1163+32A>G (n.1163+32A>G) c.533A>G (p.Asn178Ser) c.*13A>G (n.*13A>G) c.573+32A>G (n.573+32A>G) c.757A>G c.605A>G (p.Asn202Ser) c.425-1249A>G c.*1089A>G (n.*1089A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904714T>G | CA412893858 | SLC35A2 | c.1163+32A>C (n.1163+32A>C) c.533A>C (p.Asn178Thr) c.*13A>C (n.*13A>C) c.573+32A>C (n.573+32A>C) c.757A>C c.605A>C (p.Asn202Thr) c.425-1249A>C c.*1089A>C (n.*1089A>C) | |
X | g.48904714T= | CA2428428755 | SLC35A2 | c.1163+32A= (n.1163+32A=) c.533A= (p.Asn178=) c.*13A= (n.*13A=) c.573+32A= (n.573+32A=) c.757A= c.605A= (p.Asn202=) c.425-1249A= c.*1089A= (n.*1089A=) | |
X | g.48904715T>A | CA412893859 | SLC35A2 | c.1163+31A>T (n.1163+31A>T) c.532A>T (p.Asn178Tyr) c.*12A>T (n.*12A>T) c.573+31A>T (n.573+31A>T) c.756A>T c.604A>T (p.Asn202Tyr) c.425-1250A>T c.*1088A>T (n.*1088A>T) | |
X | g.48904715T>C | CA412893860 | SLC35A2 | c.1163+31A>G (n.1163+31A>G) c.532A>G (p.Asn178Asp) c.*12A>G (n.*12A>G) c.573+31A>G (n.573+31A>G) c.756A>G c.604A>G (p.Asn202Asp) c.425-1250A>G c.*1088A>G (n.*1088A>G) | |
X | g.48904715T>G | CA412893861 | SLC35A2 | c.1163+31A>C (n.1163+31A>C) c.532A>C (p.Asn178His) c.*12A>C (n.*12A>C) c.573+31A>C (n.573+31A>C) c.756A>C c.604A>C (p.Asn202His) c.425-1250A>C c.*1088A>C (n.*1088A>C) | |
X | g.48904716G>A | CA875942177 | SLC35A2 | c.1163+30C>T (n.1163+30C>T) c.531C>T (p.Ser177=) c.*11C>T (n.*11C>T) c.573+30C>T (n.573+30C>T) c.755C>T c.603C>T (p.Ser201=) c.425-1251C>T c.*1087C>T (n.*1087C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48904716G>C | CA10406043 | SLC35A2 | c.1163+30C>G (n.1163+30C>G) c.531C>G (p.Ser177Arg) c.*11C>G (n.*11C>G) c.573+30C>G (n.573+30C>G) c.755C>G c.603C>G (p.Ser201Arg) c.425-1251C>G c.*1087C>G (n.*1087C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904716G= | CA2428428756 | SLC35A2 | c.1163+30C= (n.1163+30C=) c.531C= (p.Ser177=) c.*11C= (n.*11C=) c.573+30C= (n.573+30C=) c.755C= c.603C= (p.Ser201=) c.425-1251C= c.*1087C= (n.*1087C=) | |
X | g.48904716G>T | CA412893862 | SLC35A2 | c.1163+30C>A (n.1163+30C>A) c.531C>A (p.Ser177Arg) c.*11C>A (n.*11C>A) c.573+30C>A (n.573+30C>A) c.755C>A c.603C>A (p.Ser201Arg) c.425-1251C>A c.*1087C>A (n.*1087C>A) | |
X | g.48904717C>A | CA412893863 | SLC35A2 | c.1163+29G>T (n.1163+29G>T) c.530G>T (p.Ser177Ile) c.*10G>T (n.*10G>T) c.573+29G>T (n.573+29G>T) c.754G>T c.602G>T (p.Ser201Ile) c.425-1252G>T c.*1086G>T (n.*1086G>T) | |
X | g.48904717C>G | CA412893864 | SLC35A2 | c.1163+29G>C (n.1163+29G>C) c.530G>C (p.Ser177Thr) c.*10G>C (n.*10G>C) c.573+29G>C (n.573+29G>C) c.754G>C c.602G>C (p.Ser201Thr) c.425-1252G>C c.*1086G>C (n.*1086G>C) | |
X | g.48904717C>T | CA412893865 | SLC35A2 | c.1163+29G>A (n.1163+29G>A) c.530G>A (p.Ser177Asn) c.*10G>A (n.*10G>A) c.573+29G>A (n.573+29G>A) c.754G>A c.602G>A (p.Ser201Asn) c.425-1252G>A c.*1086G>A (n.*1086G>A) | |
X | g.48904718T>A | CA412893867 | SLC35A2 | c.1163+28A>T (n.1163+28A>T) c.529A>T (p.Ser177Cys) c.*9A>T (n.*9A>T) c.573+28A>T (n.573+28A>T) c.753A>T c.601A>T (p.Ser201Cys) c.425-1253A>T c.*1085A>T (n.*1085A>T) | |
X | g.48904718T>C | CA412893868 | SLC35A2 | c.1163+28A>G (n.1163+28A>G) c.529A>G (p.Ser177Gly) c.*9A>G (n.*9A>G) c.573+28A>G (n.573+28A>G) c.753A>G c.601A>G (p.Ser201Gly) c.425-1253A>G c.*1085A>G (n.*1085A>G) | |
X | g.48904718T>G | CA412893866 | SLC35A2 | c.1163+28A>C (n.1163+28A>C) c.529A>C (p.Ser177Arg) c.*9A>C (n.*9A>C) c.573+28A>C (n.573+28A>C) c.753A>C c.601A>C (p.Ser201Arg) c.425-1253A>C c.*1085A>C (n.*1085A>C) | |
X | g.48904720C>A | CA412893869 | SLC35A2 | c.1163+26G>T (n.1163+26G>T) c.527G>T (p.Gly176Val) c.*7G>T (n.*7G>T) c.573+26G>T (n.573+26G>T) c.751G>T c.599G>T (p.Gly200Val) c.425-1255G>T c.*1083G>T (n.*1083G>T) | |
X | g.48904720C>G | CA412893870 | SLC35A2 | c.1163+26G>C (n.1163+26G>C) c.527G>C (p.Gly176Ala) c.*7G>C (n.*7G>C) c.573+26G>C (n.573+26G>C) c.751G>C c.599G>C (p.Gly200Ala) c.425-1255G>C c.*1083G>C (n.*1083G>C) | |
X | g.48904720C>T | CA412893871 | SLC35A2 | c.1163+26G>A (n.1163+26G>A) c.527G>A (p.Gly176Asp) c.*7G>A (n.*7G>A) c.573+26G>A (n.573+26G>A) c.751G>A c.599G>A (p.Gly200Asp) c.425-1255G>A c.*1083G>A (n.*1083G>A) | |
X | g.48904721C>A | CA412893872 | SLC35A2 | c.1163+25G>T (n.1163+25G>T) c.526G>T (p.Gly176Cys) c.*6G>T (n.*6G>T) c.573+25G>T (n.573+25G>T) c.750G>T c.598G>T (p.Gly200Cys) c.425-1256G>T c.*1082G>T (n.*1082G>T) | |
X | g.48904721C>G | CA412893873 | SLC35A2 | c.1163+25G>C (n.1163+25G>C) c.526G>C (p.Gly176Arg) c.*6G>C (n.*6G>C) c.573+25G>C (n.573+25G>C) c.750G>C c.598G>C (p.Gly200Arg) c.425-1256G>C c.*1082G>C (n.*1082G>C) | |
X | g.48904721C>T | CA412893874 | SLC35A2 | c.1163+25G>A (n.1163+25G>A) c.526G>A (p.Gly176Ser) c.*6G>A (n.*6G>A) c.573+25G>A (n.573+25G>A) c.750G>A c.598G>A (p.Gly200Ser) c.425-1256G>A c.*1082G>A (n.*1082G>A) | |
X | g.48904723G>A | CA412893877 | SLC35A2 | c.1163+23C>T (n.1163+23C>T) c.524C>T (p.Ala175Val) c.*4C>T (n.*4C>T) c.573+23C>T (n.573+23C>T) c.748C>T c.596C>T (p.Ala199Val) c.425-1258C>T c.*1080C>T (n.*1080C>T) | |
X | g.48904723G>C | CA412893875 | SLC35A2 | c.1163+23C>G (n.1163+23C>G) c.524C>G (p.Ala175Gly) c.*4C>G (n.*4C>G) c.573+23C>G (n.573+23C>G) c.748C>G c.596C>G (p.Ala199Gly) c.425-1258C>G c.*1080C>G (n.*1080C>G) | |
X | g.48904723G>T | CA412893876 | SLC35A2 | c.1163+23C>A (n.1163+23C>A) c.524C>A (p.Ala175Asp) c.*4C>A (n.*4C>A) c.573+23C>A (n.573+23C>A) c.748C>A c.596C>A (p.Ala199Asp) c.425-1258C>A c.*1080C>A (n.*1080C>A) | |
X | g.48904724C>A | CA412893878 | SLC35A2 | c.1163+22G>T (n.1163+22G>T) c.523G>T (p.Ala175Ser) c.*3G>T (n.*3G>T) c.573+22G>T (n.573+22G>T) c.747G>T c.595G>T (p.Ala199Ser) c.425-1259G>T c.*1079G>T (n.*1079G>T) | |
X | g.48904724C>G | CA412893879 | SLC35A2 | c.1163+22G>C (n.1163+22G>C) c.523G>C (p.Ala175Pro) c.*3G>C (n.*3G>C) c.573+22G>C (n.573+22G>C) c.747G>C c.595G>C (p.Ala199Pro) c.425-1259G>C c.*1079G>C (n.*1079G>C) | |
X | g.48904724C>T | CA412893880 | SLC35A2 | c.1163+22G>A (n.1163+22G>A) c.523G>A (p.Ala175Thr) c.*3G>A (n.*3G>A) c.573+22G>A (n.573+22G>A) c.747G>A c.595G>A (p.Ala199Thr) c.425-1259G>A c.*1079G>A (n.*1079G>A) | |
X | g.48904725C>A | CA412893881 | SLC35A2 | c.1163+21G>T (n.1163+21G>T) c.522G>T (p.Arg174Ser) c.*2G>T (n.*2G>T) c.573+21G>T (n.573+21G>T) c.746G>T c.594G>T (p.Arg198Ser) c.425-1260G>T c.*1078G>T (n.*1078G>T) | |
X | g.48904725C>G | CA412893882 | SLC35A2 | c.1163+21G>C (n.1163+21G>C) c.522G>C (p.Arg174Ser) c.*2G>C (n.*2G>C) c.573+21G>C (n.573+21G>C) c.746G>C c.594G>C (p.Arg198Ser) c.425-1260G>C c.*1078G>C (n.*1078G>C) | |
X | g.48904726C>A | CA412893883 | SLC35A2 | c.1163+20G>T (n.1163+20G>T) c.521G>T (p.Arg174Met) c.*1G>T (n.*1G>T) c.573+20G>T (n.573+20G>T) c.745G>T c.593G>T (p.Arg198Met) c.425-1261G>T c.*1077G>T (n.*1077G>T) | |
X | g.48904726C= | CA2428428757 | SLC35A2 | c.1163+20G= (n.1163+20G=) c.521G= (p.Arg174=) c.*1G= (n.*1G=) c.573+20G= (n.573+20G=) c.745G= c.593G= (p.Arg198=) c.425-1261G= c.*1077G= (n.*1077G=) | |
X | g.48904726C>G | CA412893884 | SLC35A2 | c.1163+20G>C (n.1163+20G>C) c.521G>C (p.Arg174Thr) c.*1G>C (n.*1G>C) c.573+20G>C (n.573+20G>C) c.745G>C c.593G>C (p.Arg198Thr) c.425-1261G>C c.*1077G>C (n.*1077G>C) | |
X | g.48904726C>T | CA10406044 | SLC35A2 | c.1163+20G>A (n.1163+20G>A) c.521G>A (p.Arg174Lys) c.*1G>A (n.*1G>A) c.573+20G>A (n.573+20G>A) c.745G>A c.593G>A (p.Arg198Lys) c.425-1261G>A c.*1077G>A (n.*1077G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48904727T>A | CA412893885 | SLC35A2 | c.1163+19A>T (n.1163+19A>T) c.520A>T (p.Arg174Trp) c.1182A>T (p.Ter394Cys) c.573+19A>T (n.573+19A>T) c.744A>T c.592A>T (p.Arg198Trp) c.1266A>T (p.Ter422Cys) c.1221A>T (p.Ter407Cys) c.425-1262A>T c.999A>T (p.Ter333Cys) c.*1076A>T (n.*1076A>T) | |
X | g.48904727T>C | CA412893886 | SLC35A2 | c.1163+19A>G (n.1163+19A>G) c.520A>G (p.Arg174Gly) c.1182A>G (p.Ter394Trp) c.573+19A>G (n.573+19A>G) c.744A>G c.592A>G (p.Arg198Gly) c.1266A>G (p.Ter422Trp) c.1221A>G (p.Ter407Trp) c.425-1262A>G c.999A>G (p.Ter333Trp) c.*1076A>G (n.*1076A>G) | |
X | g.48904727T>G | CA412893887 | SLC35A2 | c.1163+19A>C (n.1163+19A>C) c.520A>C (p.Arg174=) c.1182A>C (p.Ter394Cys) c.573+19A>C (n.573+19A>C) c.744A>C c.592A>C (p.Arg198=) c.1266A>C (p.Ter422Cys) c.1221A>C (p.Ter407Cys) c.425-1262A>C c.999A>C (p.Ter333Cys) c.*1076A>C (n.*1076A>C) | |
X | g.48904728C>A | CA412893888 | SLC35A2 | c.1163+18G>T (n.1163+18G>T) c.519G>T (p.Val173=) c.1181G>T (p.Ter394Leu) c.573+18G>T (n.573+18G>T) c.743G>T c.591G>T (p.Val197=) c.1265G>T (p.Ter422Leu) c.1220G>T (p.Ter407Leu) c.425-1263G>T c.998G>T (p.Ter333Leu) c.*1075G>T (n.*1075G>T) | |
X | g.48904728C>G | CA412893889 | SLC35A2 | c.1163+18G>C (n.1163+18G>C) c.519G>C (p.Val173=) c.1181G>C (p.Ter394Ser) c.573+18G>C (n.573+18G>C) c.743G>C c.591G>C (p.Val197=) c.1265G>C (p.Ter422Ser) c.1220G>C (p.Ter407Ser) c.425-1263G>C c.998G>C (p.Ter333Ser) c.*1075G>C (n.*1075G>C) | |
X | g.48904729A>C | CA412893890 | SLC35A2 | c.1163+17T>G (n.1163+17T>G) c.518T>G (p.Val173Gly) c.1180T>G (p.Ter394Gly) c.573+17T>G (n.573+17T>G) c.742T>G c.590T>G (p.Val197Gly) c.1264T>G (p.Ter422Gly) c.1219T>G (p.Ter407Gly) c.425-1264T>G c.997T>G (p.Ter333Gly) c.*1074T>G (n.*1074T>G) | |
X | g.48904729A>G | CA412893891 | SLC35A2 | c.1163+17T>C (n.1163+17T>C) c.518T>C (p.Val173Ala) c.1180T>C (p.Ter394Arg) c.573+17T>C (n.573+17T>C) c.742T>C c.590T>C (p.Val197Ala) c.1264T>C (p.Ter422Arg) c.1219T>C (p.Ter407Arg) c.425-1264T>C c.997T>C (p.Ter333Arg) c.*1074T>C (n.*1074T>C) | |
X | g.48904729A>T | CA412893892 | SLC35A2 | c.1163+17T>A (n.1163+17T>A) c.518T>A (p.Val173Glu) c.1180T>A (p.Ter394Arg) c.573+17T>A (n.573+17T>A) c.742T>A c.590T>A (p.Val197Glu) c.1264T>A (p.Ter422Arg) c.1219T>A (p.Ter407Arg) c.425-1264T>A c.997T>A (p.Ter333Arg) c.*1074T>A (n.*1074T>A) | |
X | g.48904730C>A | CA10406045 | SLC35A2 | c.1163+16G>T (n.1163+16G>T) c.517G>T (p.Val173Leu) c.1179G>T (p.Lys393Asn) c.573+16G>T (n.573+16G>T) c.741G>T c.589G>T (p.Val197Leu) c.1263G>T (p.Lys421Asn) c.1218G>T (p.Lys406Asn) c.425-1265G>T c.996G>T (p.Lys332Asn) c.*1073G>T (n.*1073G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904730C= | CA2428428758 | SLC35A2 | c.1163+16G= (n.1163+16G=) c.517G= (p.Val173=) c.1179G= (p.Lys393=) c.573+16G= (n.573+16G=) c.741G= c.589G= (p.Val197=) c.1263G= (p.Lys421=) c.1218G= (p.Lys406=) c.425-1265G= c.996G= (p.Lys332=) c.*1073G= (n.*1073G=) | |
X | g.48904730C>G | CA412893893 | SLC35A2 | c.1163+16G>C (n.1163+16G>C) c.517G>C (p.Val173Leu) c.1179G>C (p.Lys393Asn) c.573+16G>C (n.573+16G>C) c.741G>C c.589G>C (p.Val197Leu) c.1263G>C (p.Lys421Asn) c.1218G>C (p.Lys406Asn) c.425-1265G>C c.996G>C (p.Lys332Asn) c.*1073G>C (n.*1073G>C) | |
X | g.48904730C>T | CA412893894 | SLC35A2 | c.1163+16G>A (n.1163+16G>A) c.517G>A (p.Val173Met) c.1179G>A (p.Lys393=) c.573+16G>A (n.573+16G>A) c.741G>A c.589G>A (p.Val197Met) c.1263G>A (p.Lys421=) c.1218G>A (p.Lys406=) c.425-1265G>A c.996G>A (p.Lys332=) c.*1073G>A (n.*1073G>A) | gnomAD v4 |
X | g.48904731T>A | CA412893897 | SLC35A2 | c.1163+15A>T (n.1163+15A>T) c.516A>T (p.Glu172Asp) c.1178A>T (p.Lys393Met) c.573+15A>T (n.573+15A>T) c.740A>T c.588A>T (p.Glu196Asp) c.1262A>T (p.Lys421Met) c.1217A>T (p.Lys406Met) c.425-1266A>T c.995A>T (p.Lys332Met) c.*1072A>T (n.*1072A>T) | |
X | g.48904731T>C | CA412893896 | SLC35A2 | c.1163+15A>G (n.1163+15A>G) c.516A>G (p.Glu172=) c.1178A>G (p.Lys393Arg) c.573+15A>G (n.573+15A>G) c.740A>G c.588A>G (p.Glu196=) c.1262A>G (p.Lys421Arg) c.1217A>G (p.Lys406Arg) c.425-1266A>G c.995A>G (p.Lys332Arg) c.*1072A>G (n.*1072A>G) | |
X | g.48904731T>G | CA412893895 | SLC35A2 | c.1163+15A>C (n.1163+15A>C) c.516A>C (p.Glu172Asp) c.1178A>C (p.Lys393Thr) c.573+15A>C (n.573+15A>C) c.740A>C c.588A>C (p.Glu196Asp) c.1262A>C (p.Lys421Thr) c.1217A>C (p.Lys406Thr) c.425-1266A>C c.995A>C (p.Lys332Thr) c.*1072A>C (n.*1072A>C) | |
X | g.48904732T>A | CA412893898 | SLC35A2 | c.1163+14A>T (n.1163+14A>T) c.515A>T (p.Glu172Val) c.1177A>T (p.Lys393Ter) c.573+14A>T (n.573+14A>T) c.739A>T c.587A>T (p.Glu196Val) c.1261A>T (p.Lys421Ter) c.1216A>T (p.Lys406Ter) c.425-1267A>T c.994A>T (p.Lys332Ter) c.*1071A>T (n.*1071A>T) | |
X | g.48904732T>C | CA412893900 | SLC35A2 | c.1163+14A>G (n.1163+14A>G) c.515A>G (p.Glu172Gly) c.1177A>G (p.Lys393Glu) c.573+14A>G (n.573+14A>G) c.739A>G c.587A>G (p.Glu196Gly) c.1261A>G (p.Lys421Glu) c.1216A>G (p.Lys406Glu) c.425-1267A>G c.994A>G (p.Lys332Glu) c.*1071A>G (n.*1071A>G) | |
X | g.48904732T>G | CA412893899 | SLC35A2 | c.1163+14A>C (n.1163+14A>C) c.515A>C (p.Glu172Ala) c.1177A>C (p.Lys393Gln) c.573+14A>C (n.573+14A>C) c.739A>C c.587A>C (p.Glu196Ala) c.1261A>C (p.Lys421Gln) c.1216A>C (p.Lys406Gln) c.425-1267A>C c.994A>C (p.Lys332Gln) c.*1071A>C (n.*1071A>C) | |
X | g.48904733C>A | CA412893901 | SLC35A2 | c.1163+13G>T (n.1163+13G>T) c.514G>T (p.Glu172Ter) c.1176G>T (p.Val392=) c.573+13G>T (n.573+13G>T) c.738G>T c.586G>T (p.Glu196Ter) c.1260G>T (p.Val420=) c.1215G>T (p.Val405=) c.425-1268G>T c.993G>T (p.Val331=) c.*1070G>T (n.*1070G>T) | |
X | g.48904733C>G | CA412893903 | SLC35A2 | c.1163+13G>C (n.1163+13G>C) c.514G>C (p.Glu172Gln) c.1176G>C (p.Val392=) c.573+13G>C (n.573+13G>C) c.738G>C c.586G>C (p.Glu196Gln) c.1260G>C (p.Val420=) c.1215G>C (p.Val405=) c.425-1268G>C c.993G>C (p.Val331=) c.*1070G>C (n.*1070G>C) | |
X | g.48904733C>T | CA412893902 | SLC35A2 | c.1163+13G>A (n.1163+13G>A) c.514G>A (p.Glu172Lys) c.1176G>A (p.Val392=) c.573+13G>A (n.573+13G>A) c.738G>A c.586G>A (p.Glu196Lys) c.1260G>A (p.Val420=) c.1215G>A (p.Val405=) c.425-1268G>A c.993G>A (p.Val331=) c.*1070G>A (n.*1070G>A) | |
X | g.48904734A>C | CA412893904 | SLC35A2 | c.1163+12T>G (n.1163+12T>G) c.513T>G (p.Gly171=) c.1175T>G (p.Val392Gly) c.573+12T>G (n.573+12T>G) c.737T>G c.585T>G (p.Gly195=) c.1259T>G (p.Val420Gly) c.1214T>G (p.Val405Gly) c.425-1269T>G c.992T>G (p.Val331Gly) c.*1069T>G (n.*1069T>G) | |
X | g.48904734A>G | CA412893905 | SLC35A2 | c.1163+12T>C (n.1163+12T>C) c.513T>C (p.Gly171=) c.1175T>C (p.Val392Ala) c.573+12T>C (n.573+12T>C) c.737T>C c.585T>C (p.Gly195=) c.1259T>C (p.Val420Ala) c.1214T>C (p.Val405Ala) c.425-1269T>C c.992T>C (p.Val331Ala) c.*1069T>C (n.*1069T>C) | gnomAD v4 |
X | g.48904734A>T | CA412893906 | SLC35A2 | c.1163+12T>A (n.1163+12T>A) c.513T>A (p.Gly171=) c.1175T>A (p.Val392Glu) c.573+12T>A (n.573+12T>A) c.737T>A c.585T>A (p.Gly195=) c.1259T>A (p.Val420Glu) c.1214T>A (p.Val405Glu) c.425-1269T>A c.992T>A (p.Val331Glu) c.*1069T>A (n.*1069T>A) | |
X | g.48904735C>A | CA412893907 | SLC35A2 | c.1163+11G>T (n.1163+11G>T) c.512G>T (p.Gly171Val) c.1174G>T (p.Val392Leu) c.573+11G>T (n.573+11G>T) c.736G>T c.584G>T (p.Gly195Val) c.1258G>T (p.Val420Leu) c.1213G>T (p.Val405Leu) c.425-1270G>T c.991G>T (p.Val331Leu) c.*1068G>T (n.*1068G>T) | |
X | g.48904735C= | CA2428428759 | SLC35A2 | c.1163+11G= (n.1163+11G=) c.512G= (p.Gly171=) c.1174G= (p.Val392=) c.573+11G= (n.573+11G=) c.736G= c.584G= (p.Gly195=) c.1258G= (p.Val420=) c.1213G= (p.Val405=) c.425-1270G= c.991G= (p.Val331=) c.*1068G= (n.*1068G=) | |
X | g.48904735C>G | CA412893908 | SLC35A2 | c.1163+11G>C (n.1163+11G>C) c.512G>C (p.Gly171Ala) c.1174G>C (p.Val392Leu) c.573+11G>C (n.573+11G>C) c.736G>C c.584G>C (p.Gly195Ala) c.1258G>C (p.Val420Leu) c.1213G>C (p.Val405Leu) c.425-1270G>C c.991G>C (p.Val331Leu) c.*1068G>C (n.*1068G>C) | |
X | g.48904735C>T | CA412893909 | SLC35A2 | c.1163+11G>A (n.1163+11G>A) c.512G>A (p.Gly171Asp) c.1174G>A (p.Val392Met) c.573+11G>A (n.573+11G>A) c.736G>A c.584G>A (p.Gly195Asp) c.1258G>A (p.Val420Met) c.1213G>A (p.Val405Met) c.425-1270G>A c.991G>A (p.Val331Met) c.*1068G>A (n.*1068G>A) | dbSNP COSMIC COSMIC COSMIC |
X | g.48904736C>A | CA412893910 | SLC35A2 | c.1163+10G>T (n.1163+10G>T) c.511G>T (p.Gly171Cys) c.1173G>T (p.Leu391=) c.573+10G>T (n.573+10G>T) c.735G>T c.583G>T (p.Gly195Cys) c.1257G>T (p.Leu419=) c.1212G>T (p.Leu404=) c.425-1271G>T c.990G>T (p.Leu330=) c.*1067G>T (n.*1067G>T) | |
X | g.48904736C>G | CA412893911 | SLC35A2 | c.1163+10G>C (n.1163+10G>C) c.511G>C (p.Gly171Arg) c.1173G>C (p.Leu391=) c.573+10G>C (n.573+10G>C) c.735G>C c.583G>C (p.Gly195Arg) c.1257G>C (p.Leu419=) c.1212G>C (p.Leu404=) c.425-1271G>C c.990G>C (p.Leu330=) c.*1067G>C (n.*1067G>C) | gnomAD v4 |
X | g.48904736C>T | CA412893912 | SLC35A2 | c.1163+10G>A (n.1163+10G>A) c.511G>A (p.Gly171Ser) c.1173G>A (p.Leu391=) c.573+10G>A (n.573+10G>A) c.735G>A c.583G>A (p.Gly195Ser) c.1257G>A (p.Leu419=) c.1212G>A (p.Leu404=) c.425-1271G>A c.990G>A (p.Leu330=) c.*1067G>A (n.*1067G>A) | |
X | g.48904737A>C | CA412893913 | SLC35A2 | c.1163+9T>G (n.1163+9T>G) c.510T>G (p.Ala170=) c.1172T>G (p.Leu391Arg) c.573+9T>G (n.573+9T>G) c.734T>G c.582T>G (p.Ala194=) c.1256T>G (p.Leu419Arg) c.1211T>G (p.Leu404Arg) c.425-1272T>G c.989T>G (p.Leu330Arg) c.*1066T>G (n.*1066T>G) | |
X | g.48904737A>G | CA412893914 | SLC35A2 | c.1163+9T>C (n.1163+9T>C) c.510T>C (p.Ala170=) c.1172T>C (p.Leu391Pro) c.573+9T>C (n.573+9T>C) c.734T>C c.582T>C (p.Ala194=) c.1256T>C (p.Leu419Pro) c.1211T>C (p.Leu404Pro) c.425-1272T>C c.989T>C (p.Leu330Pro) c.*1066T>C (n.*1066T>C) | |
X | g.48904737A>T | CA412893915 | SLC35A2 | c.1163+9T>A (n.1163+9T>A) c.510T>A (p.Ala170=) c.1172T>A (p.Leu391Gln) c.573+9T>A (n.573+9T>A) c.734T>A c.582T>A (p.Ala194=) c.1256T>A (p.Leu419Gln) c.1211T>A (p.Leu404Gln) c.425-1272T>A c.989T>A (p.Leu330Gln) c.*1066T>A (n.*1066T>A) | |
X | g.48904738G>A | CA412893916 | SLC35A2 | c.1163+8C>T (n.1163+8C>T) c.509C>T (p.Ala170Val) c.1171C>T (p.Leu391=) c.573+8C>T (n.573+8C>T) c.733C>T c.581C>T (p.Ala194Val) c.1255C>T (p.Leu419=) c.1210C>T (p.Leu404=) c.425-1273C>T c.988C>T (p.Leu330=) c.*1065C>T (n.*1065C>T) | |
X | g.48904738G>C | CA412893918 | SLC35A2 | c.1163+8C>G (n.1163+8C>G) c.509C>G (p.Ala170Gly) c.1171C>G (p.Leu391Val) c.573+8C>G (n.573+8C>G) c.733C>G c.581C>G (p.Ala194Gly) c.1255C>G (p.Leu419Val) c.1210C>G (p.Leu404Val) c.425-1273C>G c.988C>G (p.Leu330Val) c.*1065C>G (n.*1065C>G) | |
X | g.48904738G>T | CA412893917 | SLC35A2 | c.1163+8C>A (n.1163+8C>A) c.509C>A (p.Ala170Asp) c.1171C>A (p.Leu391Met) c.573+8C>A (n.573+8C>A) c.733C>A c.581C>A (p.Ala194Asp) c.1255C>A (p.Leu419Met) c.1210C>A (p.Leu404Met) c.425-1273C>A c.988C>A (p.Leu330Met) c.*1065C>A (n.*1065C>A) | gnomAD v4 |
X | g.48904739C>A | CA412893919 | SLC35A2 | c.1163+7G>T (n.1163+7G>T) c.508G>T (p.Ala170Ser) c.1170G>T (p.Val390=) c.573+7G>T (n.573+7G>T) c.732G>T c.580G>T (p.Ala194Ser) c.1254G>T (p.Val418=) c.1209G>T (p.Val403=) c.425-1274G>T c.987G>T (p.Val329=) c.*1064G>T (n.*1064G>T) | dbSNP |
X | g.48904739C= | CA2428428760 | SLC35A2 | c.1163+7G= (n.1163+7G=) c.508G= (p.Ala170=) c.1170G= (p.Val390=) c.573+7G= (n.573+7G=) c.732G= c.580G= (p.Ala194=) c.1254G= (p.Val418=) c.1209G= (p.Val403=) c.425-1274G= c.987G= (p.Val329=) c.*1064G= (n.*1064G=) | |
X | g.48904739C>G | CA412893920 | SLC35A2 | c.1163+7G>C (n.1163+7G>C) c.508G>C (p.Ala170Pro) c.1170G>C (p.Val390=) c.573+7G>C (n.573+7G>C) c.732G>C c.580G>C (p.Ala194Pro) c.1254G>C (p.Val418=) c.1209G>C (p.Val403=) c.425-1274G>C c.987G>C (p.Val329=) c.*1064G>C (n.*1064G>C) | |
X | g.48904739C>T | CA412893921 | SLC35A2 | c.1163+7G>A (n.1163+7G>A) c.508G>A (p.Ala170Thr) c.1170G>A (p.Val390=) c.573+7G>A (n.573+7G>A) c.732G>A c.580G>A (p.Ala194Thr) c.1254G>A (p.Val418=) c.1209G>A (p.Val403=) c.425-1274G>A c.987G>A (p.Val329=) c.*1064G>A (n.*1064G>A) | |
X | g.48904740A>C | CA412893922 | SLC35A2 | c.1163+6T>G (n.1163+6T>G) c.507T>G (p.Ser169Arg) c.1169T>G (p.Val390Gly) c.573+6T>G (n.573+6T>G) c.731T>G c.579T>G (p.Ser193Arg) c.1253T>G (p.Val418Gly) c.1208T>G (p.Val403Gly) c.425-1275T>G c.986T>G (p.Val329Gly) c.*1063T>G (n.*1063T>G) | |
X | g.48904740A>G | CA412893923 | SLC35A2 | c.1163+6T>C (n.1163+6T>C) c.507T>C (p.Ser169=) c.1169T>C (p.Val390Ala) c.573+6T>C (n.573+6T>C) c.731T>C c.579T>C (p.Ser193=) c.1253T>C (p.Val418Ala) c.1208T>C (p.Val403Ala) c.425-1275T>C c.986T>C (p.Val329Ala) c.*1063T>C (n.*1063T>C) | |
X | g.48904740A>T | CA412893924 | SLC35A2 | c.1163+6T>A (n.1163+6T>A) c.507T>A (p.Ser169Arg) c.1169T>A (p.Val390Glu) c.573+6T>A (n.573+6T>A) c.731T>A c.579T>A (p.Ser193Arg) c.1253T>A (p.Val418Glu) c.1208T>A (p.Val403Glu) c.425-1275T>A c.986T>A (p.Val329Glu) c.*1063T>A (n.*1063T>A) | |
X | g.48904741C>A | CA412893925 | SLC35A2 | c.1163+5G>T (n.1163+5G>T) c.506G>T (p.Ser169Ile) c.1168G>T (p.Val390Leu) c.573+5G>T (n.573+5G>T) c.730G>T c.578G>T (p.Ser193Ile) c.1252G>T (p.Val418Leu) c.1207G>T (p.Val403Leu) c.425-1276G>T c.985G>T (p.Val329Leu) c.*1062G>T (n.*1062G>T) | |
X | g.48904741C>G | CA412893926 | SLC35A2 | c.1163+5G>C (n.1163+5G>C) c.506G>C (p.Ser169Thr) c.1168G>C (p.Val390Leu) c.573+5G>C (n.573+5G>C) c.730G>C c.578G>C (p.Ser193Thr) c.1252G>C (p.Val418Leu) c.1207G>C (p.Val403Leu) c.425-1276G>C c.985G>C (p.Val329Leu) c.*1062G>C (n.*1062G>C) | |
X | g.48904741C>T | CA412893927 | SLC35A2 | c.1163+5G>A (n.1163+5G>A) c.506G>A (p.Ser169Asn) c.1168G>A (p.Val390Met) c.573+5G>A (n.573+5G>A) c.730G>A c.578G>A (p.Ser193Asn) c.1252G>A (p.Val418Met) c.1207G>A (p.Val403Met) c.425-1276G>A c.985G>A (p.Val329Met) c.*1062G>A (n.*1062G>A) | |
X | g.48904742T>A | CA412893930 | SLC35A2 | c.1163+4A>T (n.1163+4A>T) c.505A>T (p.Ser169Cys) c.1167A>T (p.Ser389=) c.573+4A>T (n.573+4A>T) c.729A>T c.577A>T (p.Ser193Cys) c.1251A>T (p.Ser417=) c.1206A>T (p.Ser402=) c.425-1277A>T c.984A>T (p.Ser328=) c.*1061A>T (n.*1061A>T) | |
X | g.48904742T>C | CA412893929 | SLC35A2 | c.1163+4A>G (n.1163+4A>G) c.505A>G (p.Ser169Gly) c.1167A>G (p.Ser389=) c.573+4A>G (n.573+4A>G) c.729A>G c.577A>G (p.Ser193Gly) c.1251A>G (p.Ser417=) c.1206A>G (p.Ser402=) c.425-1277A>G c.984A>G (p.Ser328=) c.*1061A>G (n.*1061A>G) | |
X | g.48904742T>G | CA412893928 | SLC35A2 | c.1163+4A>C (n.1163+4A>C) c.505A>C (p.Ser169Arg) c.1167A>C (p.Ser389=) c.573+4A>C (n.573+4A>C) c.729A>C c.577A>C (p.Ser193Arg) c.1251A>C (p.Ser417=) c.1206A>C (p.Ser402=) c.425-1277A>C c.984A>C (p.Ser328=) c.*1061A>C (n.*1061A>C) | |
X | g.48904743G>A | CA412893931 | SLC35A2 | c.1163+3C>T (n.1163+3C>T) c.504C>T (p.Val168=) c.1166C>T (p.Ser389Leu) c.573+3C>T (n.573+3C>T) c.728C>T c.576C>T (p.Val192=) c.1250C>T (p.Ser417Leu) c.1205C>T (p.Ser402Leu) c.425-1278C>T c.983C>T (p.Ser328Leu) c.*1060C>T (n.*1060C>T) | |
X | g.48904743G>C | CA412893932 | SLC35A2 | c.1163+3C>G (n.1163+3C>G) c.504C>G (p.Val168=) c.1166C>G (p.Ser389Ter) c.573+3C>G (n.573+3C>G) c.728C>G c.576C>G (p.Val192=) c.1250C>G (p.Ser417Ter) c.1205C>G (p.Ser402Ter) c.425-1278C>G c.983C>G (p.Ser328Ter) c.*1060C>G (n.*1060C>G) | |
X | g.48904743G>T | CA412893933 | SLC35A2 | c.1163+3C>A (n.1163+3C>A) c.504C>A (p.Val168=) c.1166C>A (p.Ser389Ter) c.573+3C>A (n.573+3C>A) c.728C>A c.576C>A (p.Val192=) c.1250C>A (p.Ser417Ter) c.1205C>A (p.Ser402Ter) c.425-1278C>A c.983C>A (p.Ser328Ter) c.*1060C>A (n.*1060C>A) | |
X | g.48904744A>C | CA412893934 | SLC35A2 | c.1163+2T>G (n.1163+2T>G) c.503T>G (p.Val168Gly) c.1165T>G (p.Ser389Ala) c.573+2T>G (n.573+2T>G) c.727T>G c.575T>G (p.Val192Gly) c.1249T>G (p.Ser417Ala) c.1204T>G (p.Ser402Ala) c.425-1279T>G c.982T>G (p.Ser328Ala) c.*1059T>G (n.*1059T>G) | |
X | g.48904744A>G | CA412893935 | SLC35A2 | c.1163+2T>C (n.1163+2T>C) c.503T>C (p.Val168Ala) c.1165T>C (p.Ser389Pro) c.573+2T>C (n.573+2T>C) c.727T>C c.575T>C (p.Val192Ala) c.1249T>C (p.Ser417Pro) c.1204T>C (p.Ser402Pro) c.425-1279T>C c.982T>C (p.Ser328Pro) c.*1059T>C (n.*1059T>C) | |
X | g.48904744A>T | CA412893936 | SLC35A2 | c.1163+2T>A (n.1163+2T>A) c.503T>A (p.Val168Asp) c.1165T>A (p.Ser389Thr) c.573+2T>A (n.573+2T>A) c.727T>A c.575T>A (p.Val192Asp) c.1249T>A (p.Ser417Thr) c.1204T>A (p.Ser402Thr) c.425-1279T>A c.982T>A (p.Ser328Thr) c.*1059T>A (n.*1059T>A) | |
X | g.48904745C>A | CA412893937 | SLC35A2 | c.1163+1G>T (n.1163+1G>T) c.502G>T (p.Val168Phe) c.1164G>T (p.Lys388Asn) c.573+1G>T (n.573+1G>T) c.726G>T c.574G>T (p.Val192Phe) c.1248G>T (p.Lys416Asn) c.1203G>T (p.Lys401Asn) c.425-1280G>T c.981G>T (p.Lys327Asn) c.*1058G>T (n.*1058G>T) | |
X | g.48904745C>G | CA412893938 | SLC35A2 | c.1163+1G>C (n.1163+1G>C) c.502G>C (p.Val168Leu) c.1164G>C (p.Lys388Asn) c.573+1G>C (n.573+1G>C) c.726G>C c.574G>C (p.Val192Leu) c.1248G>C (p.Lys416Asn) c.1203G>C (p.Lys401Asn) c.425-1280G>C c.981G>C (p.Lys327Asn) c.*1058G>C (n.*1058G>C) | |
X | g.48904745C>T | CA412893939 | SLC35A2 | c.1163+1G>A (n.1163+1G>A) c.502G>A (p.Val168Ile) c.1164G>A (p.Lys388=) c.573+1G>A (n.573+1G>A) c.726G>A c.574G>A (p.Val192Ile) c.1248G>A (p.Lys416=) c.1203G>A (p.Lys401=) c.425-1280G>A c.981G>A (p.Lys327=) c.*1058G>A (n.*1058G>A) | |
X | g.48904746T>A | CA412893940 | SLC35A2 | c.1163A>T (p.Lys388Met) c.501A>T (p.Lys167Asn) c.573A>T (p.Lys191Asn) c.725A>T c.1247A>T (p.Lys416Met) c.1202A>T (p.Lys401Met) c.425-1281A>T c.980A>T (p.Lys327Met) c.*1057A>T (n.*1057A>T) | |
X | g.48904746T>C | CA412893941 | SLC35A2 | c.1163A>G (p.Lys388Arg) c.501A>G (p.Lys167=) c.573A>G (p.Lys191=) c.725A>G c.1247A>G (p.Lys416Arg) c.1202A>G (p.Lys401Arg) c.425-1281A>G c.980A>G (p.Lys327Arg) c.*1057A>G (n.*1057A>G) | |
X | g.48904746T>G | CA412893942 | SLC35A2 | c.1163A>C (p.Lys388Thr) c.501A>C (p.Lys167Asn) c.573A>C (p.Lys191Asn) c.725A>C c.1247A>C (p.Lys416Thr) c.1202A>C (p.Lys401Thr) c.425-1281A>C c.980A>C (p.Lys327Thr) c.*1057A>C (n.*1057A>C) | |
X | g.48904747T>A | CA412893944 | SLC35A2 | c.1162A>T (p.Lys388Ter) c.500A>T (p.Lys167Ile) c.572A>T (p.Lys191Ile) c.724A>T c.1246A>T (p.Lys416Ter) c.1201A>T (p.Lys401Ter) c.425-1282A>T c.979A>T (p.Lys327Ter) c.*1056A>T (n.*1056A>T) | |
X | g.48904747T>C | CA10406046 | SLC35A2 | c.1162A>G (p.Lys388Glu) c.500A>G (p.Lys167Arg) c.572A>G (p.Lys191Arg) c.724A>G c.1246A>G (p.Lys416Glu) c.1201A>G (p.Lys401Glu) c.425-1282A>G c.979A>G (p.Lys327Glu) c.*1056A>G (n.*1056A>G) | dbSNP ExAC gnomAD v4 |
X | g.48904747T>G | CA412893943 | SLC35A2 | c.1162A>C (p.Lys388Gln) c.500A>C (p.Lys167Thr) c.572A>C (p.Lys191Thr) c.724A>C c.1246A>C (p.Lys416Gln) c.1201A>C (p.Lys401Gln) c.425-1282A>C c.979A>C (p.Lys327Gln) c.*1056A>C (n.*1056A>C) | |
X | g.48904747T= | CA2428428761 | SLC35A2 | c.1162A= (p.Lys388=) c.500A= (p.Lys167=) c.572A= (p.Lys191=) c.724A= c.1246A= (p.Lys416=) c.1201A= (p.Lys401=) c.425-1282A= c.979A= (p.Lys327=) c.*1056A= (n.*1056A=) | |
X | g.48904748T>A | CA412893945 | SLC35A2 | c.1161A>T (p.Pro387=) c.499A>T (p.Lys167Ter) c.571A>T (p.Lys191Ter) c.723A>T c.1245A>T (p.Pro415=) c.1200A>T (p.Pro400=) c.425-1283A>T c.978A>T (p.Pro326=) c.*1055A>T (n.*1055A>T) | |
X | g.48904748T>C | CA412893946 | SLC35A2 | c.1161A>G (p.Pro387=) c.499A>G (p.Lys167Glu) c.571A>G (p.Lys191Glu) c.723A>G c.1245A>G (p.Pro415=) c.1200A>G (p.Pro400=) c.425-1283A>G c.978A>G (p.Pro326=) c.*1055A>G (n.*1055A>G) | |
X | g.48904748T>G | CA412893947 | SLC35A2 | c.1161A>C (p.Pro387=) c.499A>C (p.Lys167Gln) c.571A>C (p.Lys191Gln) c.723A>C c.1245A>C (p.Pro415=) c.1200A>C (p.Pro400=) c.425-1283A>C c.978A>C (p.Pro326=) c.*1055A>C (n.*1055A>C) | |
X | g.48904749G>A | CA412893948 | SLC35A2 | c.1160C>T (p.Pro387Leu) c.498C>T (p.Ala166=) c.570C>T (p.Ala190=) c.722C>T c.1244C>T (p.Pro415Leu) c.1199C>T (p.Pro400Leu) c.425-1284C>T c.977C>T (p.Pro326Leu) c.*1054C>T (n.*1054C>T) | |
X | g.48904749G>C | CA412893949 | SLC35A2 | c.1160C>G (p.Pro387Arg) c.498C>G (p.Ala166=) c.570C>G (p.Ala190=) c.722C>G c.1244C>G (p.Pro415Arg) c.1199C>G (p.Pro400Arg) c.425-1284C>G c.977C>G (p.Pro326Arg) c.*1054C>G (n.*1054C>G) | |
X | g.48904749G>T | CA412893950 | SLC35A2 | c.1160C>A (p.Pro387Gln) c.498C>A (p.Ala166=) c.570C>A (p.Ala190=) c.722C>A c.1244C>A (p.Pro415Gln) c.1199C>A (p.Pro400Gln) c.425-1284C>A c.977C>A (p.Pro326Gln) c.*1054C>A (n.*1054C>A) | |
X | g.48904750G>A | CA412893951 | SLC35A2 | c.1159C>T (p.Pro387Ser) c.497C>T (p.Ala166Val) c.569C>T (p.Ala190Val) c.721C>T c.1243C>T (p.Pro415Ser) c.1198C>T (p.Pro400Ser) c.425-1285C>T c.976C>T (p.Pro326Ser) c.*1053C>T (n.*1053C>T) | |
X | g.48904750G>C | CA412893952 | SLC35A2 | c.1159C>G (p.Pro387Ala) c.497C>G (p.Ala166Gly) c.569C>G (p.Ala190Gly) c.721C>G c.1243C>G (p.Pro415Ala) c.1198C>G (p.Pro400Ala) c.425-1285C>G c.976C>G (p.Pro326Ala) c.*1053C>G (n.*1053C>G) | |
X | g.48904750G>T | CA412893953 | SLC35A2 | c.1159C>A (p.Pro387Thr) c.497C>A (p.Ala166Asp) c.569C>A (p.Ala190Asp) c.721C>A c.1243C>A (p.Pro415Thr) c.1198C>A (p.Pro400Thr) c.425-1285C>A c.976C>A (p.Pro326Thr) c.*1053C>A (n.*1053C>A) | |
X | g.48904751C>A | CA412893954 | SLC35A2 | c.1158G>T (p.Leu386=) c.496G>T (p.Ala166Ser) c.568G>T (p.Ala190Ser) c.720G>T c.1242G>T (p.Leu414=) c.1197G>T (p.Leu399=) c.425-1286G>T c.975G>T (p.Leu325=) c.*1052G>T (n.*1052G>T) | |
X | g.48904751C>G | CA412893955 | SLC35A2 | c.1158G>C (p.Leu386=) c.496G>C (p.Ala166Pro) c.568G>C (p.Ala190Pro) c.720G>C c.1242G>C (p.Leu414=) c.1197G>C (p.Leu399=) c.425-1286G>C c.975G>C (p.Leu325=) c.*1052G>C (n.*1052G>C) | |
X | g.48904751C>T | CA412893956 | SLC35A2 | c.1158G>A (p.Leu386=) c.496G>A (p.Ala166Thr) c.568G>A (p.Ala190Thr) c.720G>A c.1242G>A (p.Leu414=) c.1197G>A (p.Leu399=) c.425-1286G>A c.975G>A (p.Leu325=) c.*1052G>A (n.*1052G>A) | |
X | g.48904752del | CA2820821161 | SLC35A2 | c.1157del (p.Leu386ArgfsTer8) c.495del (p.Ala166ProfsTer8) c.1157del (p.Leu386ArgfsTer7) c.567del (p.Ala190ProfsTer11) c.719del c.567del (p.Ala190ProfsTer8) c.1241del (p.Leu414ArgfsTer7) c.1196del (p.Leu399ArgfsTer7) c.425-1287del c.974del (p.Leu325ArgfsTer7) c.*1051del (n.*1051del) | |
X | g.48904752A>C | CA412893958 | SLC35A2 | c.1157T>G (p.Leu386Arg) c.495T>G (p.Ser165=) c.567T>G (p.Ser189=) c.719T>G c.1241T>G (p.Leu414Arg) c.1196T>G (p.Leu399Arg) c.425-1287T>G c.974T>G (p.Leu325Arg) c.*1051T>G (n.*1051T>G) | |
X | g.48904752A>G | CA412893959 | SLC35A2 | c.1157T>C (p.Leu386Pro) c.495T>C (p.Ser165=) c.567T>C (p.Ser189=) c.719T>C c.1241T>C (p.Leu414Pro) c.1196T>C (p.Leu399Pro) c.425-1287T>C c.974T>C (p.Leu325Pro) c.*1051T>C (n.*1051T>C) | |
X | g.48904752A>T | CA412893957 | SLC35A2 | c.1157T>A (p.Leu386Gln) c.495T>A (p.Ser165=) c.567T>A (p.Ser189=) c.719T>A c.1241T>A (p.Leu414Gln) c.1196T>A (p.Leu399Gln) c.425-1287T>A c.974T>A (p.Leu325Gln) c.*1051T>A (n.*1051T>A) | |
X | g.48904753G>A | CA412893960 | SLC35A2 | c.1156C>T (p.Leu386=) c.494C>T (p.Ser165Phe) c.566C>T (p.Ser189Phe) c.718C>T c.1240C>T (p.Leu414=) c.1195C>T (p.Leu399=) c.425-1288C>T c.973C>T (p.Leu325=) c.*1050C>T (n.*1050C>T) | ClinVar dbSNP gnomAD v4 |
X | g.48904753G>C | CA412893961 | SLC35A2 | c.1156C>G (p.Leu386Val) c.494C>G (p.Ser165Cys) c.566C>G (p.Ser189Cys) c.718C>G c.1240C>G (p.Leu414Val) c.1195C>G (p.Leu399Val) c.425-1288C>G c.973C>G (p.Leu325Val) c.*1050C>G (n.*1050C>G) | |
X | g.48904753G= | CA2428428762 | SLC35A2 | c.1156C= (p.Leu386=) c.494C= (p.Ser165=) c.566C= (p.Ser189=) c.718C= c.1240C= (p.Leu414=) c.1195C= (p.Leu399=) c.425-1288C= c.973C= (p.Leu325=) c.*1050C= (n.*1050C=) | |
X | g.48904753G>T | CA412893962 | SLC35A2 | c.1156C>A (p.Leu386Met) c.494C>A (p.Ser165Tyr) c.566C>A (p.Ser189Tyr) c.718C>A c.1240C>A (p.Leu414Met) c.1195C>A (p.Leu399Met) c.425-1288C>A c.973C>A (p.Leu325Met) c.*1050C>A (n.*1050C>A) | |
X | g.48904754A>C | CA412893963 | SLC35A2 | c.1155T>G (p.Phe385Leu) c.493T>G (p.Ser165Ala) c.565T>G (p.Ser189Ala) c.717T>G c.1239T>G (p.Phe413Leu) c.1194T>G (p.Phe398Leu) c.425-1289T>G c.972T>G (p.Phe324Leu) c.*1049T>G (n.*1049T>G) | |
X | g.48904754A>G | CA412893964 | SLC35A2 | c.1155T>C (p.Phe385=) c.493T>C (p.Ser165Pro) c.565T>C (p.Ser189Pro) c.717T>C c.1239T>C (p.Phe413=) c.1194T>C (p.Phe398=) c.425-1289T>C c.972T>C (p.Phe324=) c.*1049T>C (n.*1049T>C) | |
X | g.48904754A>T | CA412893965 | SLC35A2 | c.1155T>A (p.Phe385Leu) c.493T>A (p.Ser165Thr) c.565T>A (p.Ser189Thr) c.717T>A c.1239T>A (p.Phe413Leu) c.1194T>A (p.Phe398Leu) c.425-1289T>A c.972T>A (p.Phe324Leu) c.*1049T>A (n.*1049T>A) | |
X | g.48904755A>C | CA412893968 | SLC35A2 | c.1154T>G (p.Phe385Cys) c.492T>G (p.Leu164=) c.564T>G (p.Leu188=) c.716T>G c.1238T>G (p.Phe413Cys) c.1193T>G (p.Phe398Cys) c.425-1290T>G c.971T>G (p.Phe324Cys) c.*1048T>G (n.*1048T>G) | |
X | g.48904755A>G | CA412893966 | SLC35A2 | c.1154T>C (p.Phe385Ser) c.492T>C (p.Leu164=) c.564T>C (p.Leu188=) c.716T>C c.1238T>C (p.Phe413Ser) c.1193T>C (p.Phe398Ser) c.425-1290T>C c.971T>C (p.Phe324Ser) c.*1048T>C (n.*1048T>C) | |
X | g.48904755A>T | CA412893967 | SLC35A2 | c.1154T>A (p.Phe385Tyr) c.492T>A (p.Leu164=) c.564T>A (p.Leu188=) c.716T>A c.1238T>A (p.Phe413Tyr) c.1193T>A (p.Phe398Tyr) c.425-1290T>A c.971T>A (p.Phe324Tyr) c.*1048T>A (n.*1048T>A) | |
X | g.48904756A>C | CA412893969 | SLC35A2 | c.1153T>G (p.Phe385Val) c.491T>G (p.Leu164Arg) c.563T>G (p.Leu188Arg) c.715T>G c.1237T>G (p.Phe413Val) c.1192T>G (p.Phe398Val) c.425-1291T>G c.970T>G (p.Phe324Val) c.*1047T>G (n.*1047T>G) | |
X | g.48904756A>G | CA412893970 | SLC35A2 | c.1153T>C (p.Phe385Leu) c.491T>C (p.Leu164Pro) c.563T>C (p.Leu188Pro) c.715T>C c.1237T>C (p.Phe413Leu) c.1192T>C (p.Phe398Leu) c.425-1291T>C c.970T>C (p.Phe324Leu) c.*1047T>C (n.*1047T>C) | |
X | g.48904756A>T | CA412893971 | SLC35A2 | c.1153T>A (p.Phe385Ile) c.491T>A (p.Leu164His) c.563T>A (p.Leu188His) c.715T>A c.1237T>A (p.Phe413Ile) c.1192T>A (p.Phe398Ile) c.425-1291T>A c.970T>A (p.Phe324Ile) c.*1047T>A (n.*1047T>A) | |
X | g.48904757G>A | CA412893972 | SLC35A2 | c.1152C>T (p.Pro384=) c.490C>T (p.Leu164Phe) c.562C>T (p.Leu188Phe) c.714C>T c.1236C>T (p.Pro412=) c.1191C>T (p.Pro397=) c.425-1292C>T c.969C>T (p.Pro323=) c.*1046C>T (n.*1046C>T) | |
X | g.48904757G>C | CA412893973 | SLC35A2 | c.1152C>G (p.Pro384=) c.490C>G (p.Leu164Val) c.562C>G (p.Leu188Val) c.714C>G c.1236C>G (p.Pro412=) c.1191C>G (p.Pro397=) c.425-1292C>G c.969C>G (p.Pro323=) c.*1046C>G (n.*1046C>G) | |
X | g.48904757G>T | CA412893974 | SLC35A2 | c.1152C>A (p.Pro384=) c.490C>A (p.Leu164Ile) c.562C>A (p.Leu188Ile) c.714C>A c.1236C>A (p.Pro412=) c.1191C>A (p.Pro397=) c.425-1292C>A c.969C>A (p.Pro323=) c.*1046C>A (n.*1046C>A) | |
X | g.48904758G>A | CA412893975 | SLC35A2 | c.1151C>T (p.Pro384Leu) c.489C>T (p.Ala163=) c.561C>T (p.Ala187=) c.713C>T c.1235C>T (p.Pro412Leu) c.1190C>T (p.Pro397Leu) c.425-1293C>T c.968C>T (p.Pro323Leu) c.*1045C>T (n.*1045C>T) | gnomAD v4 |
X | g.48904758G>C | CA412893977 | SLC35A2 | c.1151C>G (p.Pro384Arg) c.489C>G (p.Ala163=) c.561C>G (p.Ala187=) c.713C>G c.1235C>G (p.Pro412Arg) c.1190C>G (p.Pro397Arg) c.425-1293C>G c.968C>G (p.Pro323Arg) c.*1045C>G (n.*1045C>G) | |
X | g.48904758G>T | CA412893976 | SLC35A2 | c.1151C>A (p.Pro384His) c.489C>A (p.Ala163=) c.561C>A (p.Ala187=) c.713C>A c.1235C>A (p.Pro412His) c.1190C>A (p.Pro397His) c.425-1293C>A c.968C>A (p.Pro323His) c.*1045C>A (n.*1045C>A) | |
X | g.48904759G>A | CA412893978 | SLC35A2 | c.1150C>T (p.Pro384Ser) c.488C>T (p.Ala163Val) c.560C>T (p.Ala187Val) c.712C>T c.1234C>T (p.Pro412Ser) c.1189C>T (p.Pro397Ser) c.425-1294C>T c.967C>T (p.Pro323Ser) c.*1044C>T (n.*1044C>T) | |
X | g.48904759G>C | CA412893979 | SLC35A2 | c.1150C>G (p.Pro384Ala) c.488C>G (p.Ala163Gly) c.560C>G (p.Ala187Gly) c.712C>G c.1234C>G (p.Pro412Ala) c.1189C>G (p.Pro397Ala) c.425-1294C>G c.967C>G (p.Pro323Ala) c.*1044C>G (n.*1044C>G) | |
X | g.48904759G>T | CA412893980 | SLC35A2 | c.1150C>A (p.Pro384Thr) c.488C>A (p.Ala163Asp) c.560C>A (p.Ala187Asp) c.712C>A c.1234C>A (p.Pro412Thr) c.1189C>A (p.Pro397Thr) c.425-1294C>A c.967C>A (p.Pro323Thr) c.*1044C>A (n.*1044C>A) | gnomAD v4 |