Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.48904529_48904813delinsCCTCCCGCA2573055342SLC35A2c.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
Xg.48904659G>ACA10406032SLC35A2c.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
Xg.48904659G>CCA412893740SLC35A2c.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)
Xg.48904659G=CA2428428719SLC35A2c.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=)
Xg.48904659G>TCA412893741SLC35A2c.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)
Xg.48904660T>ACA412893742SLC35A2c.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)
Xg.48904660T>CCA412893743SLC35A2c.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)
Xg.48904660T>GCA412893744SLC35A2c.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)
Xg.48904661C>ACA412893745SLC35A2c.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)
Xg.48904661C>GCA412893746SLC35A2c.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)
Xg.48904661C>TCA412893747SLC35A2c.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)
Xg.48904662C>ACA412893749SLC35A2c.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)
Xg.48904662C=CA2428428720SLC35A2c.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=)
Xg.48904662C>GCA412893748SLC35A2c.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)
Xg.48904662C>TCA641902143SLC35A2c.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
Xg.48904663T>ACA412893750SLC35A2c.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)
Xg.48904663T>CCA412893751SLC35A2c.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)
Xg.48904663T>GCA412893752SLC35A2c.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)
Xg.48904664G>ACA412893753SLC35A2c.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
Xg.48904664G>CCA412893754SLC35A2c.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)
Xg.48904664G>TCA412893755SLC35A2c.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)
Xg.48904665C>ACA2738571207SLC35A2c.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
Xg.48904665C=CA2428428721SLC35A2c.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=)
Xg.48904665C>TCA2428428722SLC35A2c.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
Xg.48904666A>CCA412893756SLC35A2c.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)
Xg.48904666A>GCA412893757SLC35A2c.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
Xg.48904666A>TCA412893758SLC35A2c.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)
Xg.48904667G>ACA2428428724SLC35A2c.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
Xg.48904667G>CCA412893759SLC35A2c.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)
Xg.48904667G=CA2428428723SLC35A2c.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=)
Xg.48904667G>TCA412893760SLC35A2c.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)
Xg.48904668A=CA2428428725SLC35A2c.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=)
Xg.48904668A>CCA412893761SLC35A2c.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)
Xg.48904668A>GCA641902144SLC35A2c.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
Xg.48904668A>TCA412893762SLC35A2c.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)
Xg.48904669T>ACA412893765SLC35A2c.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)
Xg.48904669T>CCA412893763SLC35A2c.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)
Xg.48904669T>GCA412893764SLC35A2c.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)
Xg.48904670G>ACA412893766SLC35A2c.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
Xg.48904670G>CCA412893767SLC35A2c.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)
Xg.48904670G=CA2428428726SLC35A2c.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=)
Xg.48904670G>TCA412893768SLC35A2c.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)
Xg.48904672C>ACA412893769SLC35A2c.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)
Xg.48904672C>GCA412893770SLC35A2c.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)
Xg.48904672C>TCA412893771SLC35A2c.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
Xg.48904673C>ACA412893772SLC35A2c.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)
Xg.48904673C>GCA412893773SLC35A2c.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)
Xg.48904673C>TCA412893774SLC35A2c.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)
Xg.48904674A=CA2428428727SLC35A2c.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=)
Xg.48904674A>CCA329098396SLC35A2c.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
Xg.48904675A>CCA412893775SLC35A2c.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)
Xg.48904675A>GCA412893776SLC35A2c.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)
Xg.48904675A>TCA412893777SLC35A2c.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)
Xg.48904676C>ACA412893779SLC35A2c.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)
Xg.48904676C>GCA412893780SLC35A2c.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)
Xg.48904676C>TCA412893778SLC35A2c.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
Xg.48904677A=CA2428428728SLC35A2c.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=)
Xg.48904677A>GCA875942169SLC35A2c.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
Xg.48904678C>ACA412893782SLC35A2c.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
Xg.48904678C>GCA412893781SLC35A2c.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)
Xg.48904678C>TCA412893783SLC35A2c.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)
Xg.48904680dupCA1139769959SLC35A2c.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)
Xg.48904679_48904680dupCA2579984153SLC35A2c.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)
Xg.48904679C>ACA412893784SLC35A2c.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)
Xg.48904679C>GCA412893786SLC35A2c.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)
Xg.48904679C>TCA412893785SLC35A2c.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)
Xg.48904680C>ACA412893787SLC35A2c.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
Xg.48904680C=CA2428428729SLC35A2c.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=)
Xg.48904680C>GCA412893788SLC35A2c.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)
Xg.48904680C>TCA641902145SLC35A2c.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
Xg.48904681T>ACA412893789SLC35A2c.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)
Xg.48904681T>CCA412893790SLC35A2c.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
Xg.48904681T>GCA412893791SLC35A2c.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)
Xg.48904682C>ACA412893792SLC35A2c.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)
Xg.48904682C>GCA412893793SLC35A2c.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)
Xg.48904682C>TCA412893794SLC35A2c.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)
Xg.48904682_48904683delCA2579602943SLC35A2c.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)
Xg.48904683C=CA2428428730SLC35A2c.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=)
Xg.48904683C>TCA10406033SLC35A2c.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
Xg.48904684A>CCA412893795SLC35A2c.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)
Xg.48904684A>GCA412893796SLC35A2c.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)
Xg.48904684A>TCA412893797SLC35A2c.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)
Xg.48904684_48904685insGAATACTATATGCAATTATAAAAAGCAACAAAGAAGGGGCCAGATGTGGTGGCTCACGCCTGTAATCCCAGCCCTTGGGGAGGCAGGGGCAGGTGGATGACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGCGGCTGAGGCAGGAGACTTGCTTGAACCCAGGAGGCGGAGGATGCAGTGAGCCCA645604018SLC35A2c.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
Xg.48904685C>ACA412893798SLC35A2c.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
Xg.48904685C=CA2428428731SLC35A2c.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=)
Xg.48904685C>GCA412893799SLC35A2c.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)
Xg.48904685C>TCA412893800SLC35A2c.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
Xg.48904686C=CA2428428732SLC35A2c.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=)
Xg.48904686C>GCA641902146SLC35A2c.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
Xg.48904686C>TCA913184191SLC35A2c.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
Xg.48904687C>ACA412893801SLC35A2c.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)
Xg.48904687C>GCA412893803SLC35A2c.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)
Xg.48904687C>TCA412893802SLC35A2c.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)
Xg.48904687_48904689delinsCCACA2428428733SLC35A2c.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)
Xg.48904688C>ACA412893804SLC35A2c.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)
Xg.48904688C=CA2428428735SLC35A2c.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=)
Xg.48904688C>GCA412893805SLC35A2c.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
Xg.48904688C>TCA412893806SLC35A2c.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)
Xg.48904688_48904689delCA2428428734SLC35A2c.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
Xg.48904689A>CCA2579602945SLC35A2c.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)
Xg.48904689_48904691delCA1139769809SLC35A2c.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)
Xg.48904690G>ACA412893807SLC35A2c.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
Xg.48904690G>CCA412893808SLC35A2c.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)
Xg.48904690G=CA2428428736SLC35A2c.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=)
Xg.48904690G>TCA412893809SLC35A2c.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)
Xg.48904691delCA2693665040SLC35A2c.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
Xg.48904691T>ACA412893810SLC35A2c.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)
Xg.48904691T>CCA412893811SLC35A2c.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)
Xg.48904691T>GCA412893812SLC35A2c.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
Xg.48904691T=CA2428428738SLC35A2c.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=)
Xg.48904691_48904692delinsTCCA2428428737SLC35A2c.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)
Xg.48904692C>ACA2564509826SLC35A2c.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
Xg.48904692C=CA2428428739SLC35A2c.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=)
Xg.48904692C>GCA2693665042SLC35A2c.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
Xg.48904692C>TCA2428428740SLC35A2c.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
Xg.48904696dupCA2693665041SLC35A2c.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
Xg.48904696delCA10406034SLC35A2c.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
Xg.48904693C>ACA412893814SLC35A2c.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)
Xg.48904693C=CA2428428741SLC35A2c.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=)
Xg.48904693C>GCA412893813SLC35A2c.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
Xg.48904693C>TCA10406035SLC35A2c.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
Xg.48904694C>ACA412893815SLC35A2c.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
Xg.48904694C=CA2428428742SLC35A2c.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=)
Xg.48904694C>GCA412893816SLC35A2c.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)
Xg.48904694C>TCA412893817SLC35A2c.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)
Xg.48904695C>ACA412893818SLC35A2c.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)
Xg.48904695C>GCA412893819SLC35A2c.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)
Xg.48904696C>ACA412893820SLC35A2c.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)
Xg.48904696C>GCA412893821SLC35A2c.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)
Xg.48904696C>TCA412893822SLC35A2c.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
Xg.48904697T>ACA412893823SLC35A2c.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)
Xg.48904697T>CCA412893824SLC35A2c.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
Xg.48904697T=CA2428428743SLC35A2c.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=)
Xg.48904698C=CA2428428745SLC35A2c.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=)
Xg.48904698_48904702delinsCCCTTCA2428428744SLC35A2c.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)
Xg.48904698_48904712dupCA2820821156SLC35A2c.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)
Xg.48904699C>ACA412893825SLC35A2c.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
Xg.48904699C=CA2428428747SLC35A2c.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=)
Xg.48904699C>GCA412893826SLC35A2c.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)
Xg.48904699C>TCA412893827SLC35A2c.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
Xg.48904699_48904702delCA10406036SLC35A2c.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
Xg.48904699_48904702dupCA2428428746SLC35A2c.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
Xg.48904700C>ACA412893829SLC35A2c.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)
Xg.48904700C=CA2428428748SLC35A2c.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=)
Xg.48904700C>GCA412893828SLC35A2c.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)
Xg.48904700C>TCA10406037SLC35A2c.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
Xg.48904701T>ACA412893830SLC35A2c.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)
Xg.48904701T>CCA2565736431SLC35A2c.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
Xg.48904701T>GCA412893831SLC35A2c.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)
Xg.48904702T>ACA412893832SLC35A2c.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)
Xg.48904702T>CCA412893833SLC35A2c.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
Xg.48904702T>GCA412893834SLC35A2c.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)
Xg.48904703G>ACA412893835SLC35A2c.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)
Xg.48904703G>CCA412893836SLC35A2c.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)
Xg.48904703G>TCA412893837SLC35A2c.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)
Xg.48904704T>GCA2820821157SLC35A2c.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)
Xg.48904705G>ACA412893838SLC35A2c.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)
Xg.48904705G>CCA412893839SLC35A2c.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)
Xg.48904705G>TCA412893840SLC35A2c.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)
Xg.48904706T>ACA412893843SLC35A2c.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)
Xg.48904706T>CCA412893842SLC35A2c.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)
Xg.48904706T>GCA412893841SLC35A2c.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)
Xg.48904706_48904707delinsTCCA2428428749SLC35A2c.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)
Xg.48904707C>ACA10406040SLC35A2c.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
Xg.48904707C=CA2428428750SLC35A2c.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=)
Xg.48904707C>GCA10406039SLC35A2c.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
Xg.48904707C>TCA2693665043SLC35A2c.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
Xg.48904712delCA10406038SLC35A2c.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
Xg.48904708C>ACA412893844SLC35A2c.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)
Xg.48904708C=CA2428428751SLC35A2c.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=)
Xg.48904708C>GCA412893845SLC35A2c.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)
Xg.48904708C>TCA412893846SLC35A2c.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
Xg.48904709C>ACA412893847SLC35A2c.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)
Xg.48904709C>GCA412893848SLC35A2c.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)
Xg.48904709C>TCA412893849SLC35A2c.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)
Xg.48904710C=CA2428428752SLC35A2c.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=)
Xg.48904710C>TCA641902147SLC35A2c.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
Xg.48904711C>ACA10406041SLC35A2c.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
Xg.48904711C=CA2428428753SLC35A2c.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=)
Xg.48904711C>GCA412893850SLC35A2c.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)
Xg.48904711C>TCA412893851SLC35A2c.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)
Xg.48904712C>ACA412893852SLC35A2c.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)
Xg.48904712C=CA2428428754SLC35A2c.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=)
Xg.48904712C>GCA412893853SLC35A2c.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)
Xg.48904712C>TCA10406042SLC35A2c.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
Xg.48904713A>CCA412893854SLC35A2c.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
Xg.48904713A>GCA913184192SLC35A2c.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)
Xg.48904713A>TCA412893855SLC35A2c.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)
Xg.48904714T>ACA412893856SLC35A2c.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)
Xg.48904714T>CCA412893857SLC35A2c.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
Xg.48904714T>GCA412893858SLC35A2c.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)
Xg.48904714T=CA2428428755SLC35A2c.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=)
Xg.48904715T>ACA412893859SLC35A2c.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)
Xg.48904715T>CCA412893860SLC35A2c.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)
Xg.48904715T>GCA412893861SLC35A2c.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)
Xg.48904716G>ACA875942177SLC35A2c.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
Xg.48904716G>CCA10406043SLC35A2c.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
Xg.48904716G=CA2428428756SLC35A2c.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=)
Xg.48904716G>TCA412893862SLC35A2c.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)
Xg.48904717C>ACA412893863SLC35A2c.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)
Xg.48904717C>GCA412893864SLC35A2c.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)
Xg.48904717C>TCA412893865SLC35A2c.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)
Xg.48904718T>ACA412893867SLC35A2c.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)
Xg.48904718T>CCA412893868SLC35A2c.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)
Xg.48904718T>GCA412893866SLC35A2c.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)
Xg.48904720C>ACA412893869SLC35A2c.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)
Xg.48904720C>GCA412893870SLC35A2c.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)
Xg.48904720C>TCA412893871SLC35A2c.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)
Xg.48904721C>ACA412893872SLC35A2c.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)
Xg.48904721C>GCA412893873SLC35A2c.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)
Xg.48904721C>TCA412893874SLC35A2c.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)
Xg.48904723G>ACA412893877SLC35A2c.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)
Xg.48904723G>CCA412893875SLC35A2c.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)
Xg.48904723G>TCA412893876SLC35A2c.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)
Xg.48904724C>ACA412893878SLC35A2c.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)
Xg.48904724C>GCA412893879SLC35A2c.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)
Xg.48904724C>TCA412893880SLC35A2c.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)
Xg.48904725C>ACA412893881SLC35A2c.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)
Xg.48904725C>GCA412893882SLC35A2c.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)
Xg.48904726C>ACA412893883SLC35A2c.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)
Xg.48904726C=CA2428428757SLC35A2c.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=)
Xg.48904726C>GCA412893884SLC35A2c.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)
Xg.48904726C>TCA10406044SLC35A2c.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
Xg.48904727T>ACA412893885SLC35A2c.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)
Xg.48904727T>CCA412893886SLC35A2c.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)
Xg.48904727T>GCA412893887SLC35A2c.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)
Xg.48904728C>ACA412893888SLC35A2c.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)
Xg.48904728C>GCA412893889SLC35A2c.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)
Xg.48904729A>CCA412893890SLC35A2c.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)
Xg.48904729A>GCA412893891SLC35A2c.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)
Xg.48904729A>TCA412893892SLC35A2c.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)
Xg.48904730C>ACA10406045SLC35A2c.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
Xg.48904730C=CA2428428758SLC35A2c.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=)
Xg.48904730C>GCA412893893SLC35A2c.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)
Xg.48904730C>TCA412893894SLC35A2c.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
Xg.48904731T>ACA412893897SLC35A2c.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)
Xg.48904731T>CCA412893896SLC35A2c.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)
Xg.48904731T>GCA412893895SLC35A2c.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)
Xg.48904732T>ACA412893898SLC35A2c.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)
Xg.48904732T>CCA412893900SLC35A2c.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)
Xg.48904732T>GCA412893899SLC35A2c.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)
Xg.48904733C>ACA412893901SLC35A2c.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)
Xg.48904733C>GCA412893903SLC35A2c.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)
Xg.48904733C>TCA412893902SLC35A2c.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)
Xg.48904734A>CCA412893904SLC35A2c.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)
Xg.48904734A>GCA412893905SLC35A2c.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
Xg.48904734A>TCA412893906SLC35A2c.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)
Xg.48904735C>ACA412893907SLC35A2c.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)
Xg.48904735C=CA2428428759SLC35A2c.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=)
Xg.48904735C>GCA412893908SLC35A2c.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)
Xg.48904735C>TCA412893909SLC35A2c.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
Xg.48904736C>ACA412893910SLC35A2c.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)
Xg.48904736C>GCA412893911SLC35A2c.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
Xg.48904736C>TCA412893912SLC35A2c.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)
Xg.48904737A>CCA412893913SLC35A2c.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)
Xg.48904737A>GCA412893914SLC35A2c.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)
Xg.48904737A>TCA412893915SLC35A2c.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)
Xg.48904738G>ACA412893916SLC35A2c.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)
Xg.48904738G>CCA412893918SLC35A2c.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)
Xg.48904738G>TCA412893917SLC35A2c.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
Xg.48904739C>ACA412893919SLC35A2c.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
Xg.48904739C=CA2428428760SLC35A2c.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=)
Xg.48904739C>GCA412893920SLC35A2c.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)
Xg.48904739C>TCA412893921SLC35A2c.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)
Xg.48904740A>CCA412893922SLC35A2c.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)
Xg.48904740A>GCA412893923SLC35A2c.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)
Xg.48904740A>TCA412893924SLC35A2c.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)
Xg.48904741C>ACA412893925SLC35A2c.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)
Xg.48904741C>GCA412893926SLC35A2c.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)
Xg.48904741C>TCA412893927SLC35A2c.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)
Xg.48904742T>ACA412893930SLC35A2c.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)
Xg.48904742T>CCA412893929SLC35A2c.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)
Xg.48904742T>GCA412893928SLC35A2c.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)
Xg.48904743G>ACA412893931SLC35A2c.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)
Xg.48904743G>CCA412893932SLC35A2c.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)
Xg.48904743G>TCA412893933SLC35A2c.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)
Xg.48904744A>CCA412893934SLC35A2c.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)
Xg.48904744A>GCA412893935SLC35A2c.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)
Xg.48904744A>TCA412893936SLC35A2c.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)
Xg.48904745C>ACA412893937SLC35A2c.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)
Xg.48904745C>GCA412893938SLC35A2c.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)
Xg.48904745C>TCA412893939SLC35A2c.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)
Xg.48904746T>ACA412893940SLC35A2c.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)
Xg.48904746T>CCA412893941SLC35A2c.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)
Xg.48904746T>GCA412893942SLC35A2c.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)
Xg.48904747T>ACA412893944SLC35A2c.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)
Xg.48904747T>CCA10406046SLC35A2c.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
Xg.48904747T>GCA412893943SLC35A2c.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)
Xg.48904747T=CA2428428761SLC35A2c.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=)
Xg.48904748T>ACA412893945SLC35A2c.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)
Xg.48904748T>CCA412893946SLC35A2c.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)
Xg.48904748T>GCA412893947SLC35A2c.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)
Xg.48904749G>ACA412893948SLC35A2c.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)
Xg.48904749G>CCA412893949SLC35A2c.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)
Xg.48904749G>TCA412893950SLC35A2c.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)
Xg.48904750G>ACA412893951SLC35A2c.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)
Xg.48904750G>CCA412893952SLC35A2c.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)
Xg.48904750G>TCA412893953SLC35A2c.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)
Xg.48904751C>ACA412893954SLC35A2c.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)
Xg.48904751C>GCA412893955SLC35A2c.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)
Xg.48904751C>TCA412893956SLC35A2c.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)
Xg.48904752delCA2820821161SLC35A2c.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)
Xg.48904752A>CCA412893958SLC35A2c.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)
Xg.48904752A>GCA412893959SLC35A2c.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)
Xg.48904752A>TCA412893957SLC35A2c.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)
Xg.48904753G>ACA412893960SLC35A2c.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
Xg.48904753G>CCA412893961SLC35A2c.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)
Xg.48904753G=CA2428428762SLC35A2c.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=)
Xg.48904753G>TCA412893962SLC35A2c.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)
Xg.48904754A>CCA412893963SLC35A2c.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)
Xg.48904754A>GCA412893964SLC35A2c.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)
Xg.48904754A>TCA412893965SLC35A2c.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)
Xg.48904755A>CCA412893968SLC35A2c.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)
Xg.48904755A>GCA412893966SLC35A2c.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)
Xg.48904755A>TCA412893967SLC35A2c.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)
Xg.48904756A>CCA412893969SLC35A2c.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)
Xg.48904756A>GCA412893970SLC35A2c.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)
Xg.48904756A>TCA412893971SLC35A2c.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)
Xg.48904757G>ACA412893972SLC35A2c.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)
Xg.48904757G>CCA412893973SLC35A2c.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)
Xg.48904757G>TCA412893974SLC35A2c.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)
Xg.48904758G>ACA412893975SLC35A2c.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
Xg.48904758G>CCA412893977SLC35A2c.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)
Xg.48904758G>TCA412893976SLC35A2c.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)
Xg.48904759G>ACA412893978SLC35A2c.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)
Xg.48904759G>CCA412893979SLC35A2c.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)
Xg.48904759G>TCA412893980SLC35A2c.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

Number of alleles fetched