Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.45806192A>C | CA380202877 | SLC35C1 | c.352A>C (p.Asn118His) c.391A>C (p.Asn131His) | |
11 | g.45806192A>G | CA380202878 | SLC35C1 | c.352A>G (p.Asn118Asp) c.391A>G (p.Asn131Asp) | gnomAD v4 |
11 | g.45806192A>T | CA380202879 | SLC35C1 | c.352A>T (p.Asn118Tyr) c.391A>T (p.Asn131Tyr) | |
11 | g.45806193A= | CA1968693055 | SLC35C1 | c.353A= (p.Asn118=) c.392A= (p.Asn131=) | |
11 | g.45806193A>C | CA380202880 | SLC35C1 | c.353A>C (p.Asn118Thr) c.392A>C (p.Asn131Thr) | |
11 | g.45806193A>G | CA5958236 | SLC35C1 | c.353A>G (p.Asn118Ser) c.392A>G (p.Asn131Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806193A>T | CA380202881 | SLC35C1 | c.353A>T (p.Asn118Ile) c.392A>T (p.Asn131Ile) | |
11 | g.45806194T>A | CA380202883 | SLC35C1 | c.354T>A (p.Asn118Lys) c.393T>A (p.Asn131Lys) | gnomAD v4 |
11 | g.45806194T>C | CA474036648 | SLC35C1 | c.354T>C (p.Asn118=) c.393T>C (p.Asn131=) | |
11 | g.45806194T>G | CA380202882 | SLC35C1 | c.354T>G (p.Asn118Lys) c.393T>G (p.Asn131Lys) | |
11 | g.45806195A= | CA1968693056 | SLC35C1 | c.355A= (p.Asn119=) c.394A= (p.Asn132=) | |
11 | g.45806195A>C | CA380202884 | SLC35C1 | c.355A>C (p.Asn119His) c.394A>C (p.Asn132His) | dbSNP |
11 | g.45806195A>G | CA380202885 | SLC35C1 | c.355A>G (p.Asn119Asp) c.394A>G (p.Asn132Asp) | |
11 | g.45806195A>T | CA380202886 | SLC35C1 | c.355A>T (p.Asn119Tyr) c.394A>T (p.Asn132Tyr) | gnomAD v4 |
11 | g.45806196A= | CA1968693057 | SLC35C1 | c.356A= (p.Asn119=) c.395A= (p.Asn132=) | |
11 | g.45806196A>C | CA380202887 | SLC35C1 | c.356A>C (p.Asn119Thr) c.395A>C (p.Asn132Thr) | |
11 | g.45806196A>G | CA380202888 | SLC35C1 | c.356A>G (p.Asn119Ser) c.395A>G (p.Asn132Ser) | |
11 | g.45806196A>T | CA380202889 | SLC35C1 | c.356A>T (p.Asn119Ile) c.395A>T (p.Asn132Ile) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45806197C>A | CA380202891 | SLC35C1 | c.357C>A (p.Asn119Lys) c.396C>A (p.Asn132Lys) | |
11 | g.45806197C= | CA1968693058 | SLC35C1 | c.357C= (p.Asn119=) c.396C= (p.Asn132=) | |
11 | g.45806197C>G | CA380202890 | SLC35C1 | c.357C>G (p.Asn119Lys) c.396C>G (p.Asn132Lys) | dbSNP |
11 | g.45806197C>T | CA474036649 | SLC35C1 | c.357C>T (p.Asn119=) c.396C>T (p.Asn132=) | |
11 | g.45806198C>A | CA380202892 | SLC35C1 | c.358C>A (p.Leu120Ile) c.397C>A (p.Leu133Ile) | |
11 | g.45806198C= | CA1968693059 | SLC35C1 | c.358C= (p.Leu120=) c.397C= (p.Leu133=) | |
11 | g.45806198C>G | CA380202893 | SLC35C1 | c.358C>G (p.Leu120Val) c.397C>G (p.Leu133Val) | |
11 | g.45806198C>T | CA380202894 | SLC35C1 | c.358C>T (p.Leu120Phe) c.397C>T (p.Leu133Phe) | dbSNP |
11 | g.45806199T>A | CA380202895 | SLC35C1 | c.359T>A (p.Leu120His) c.398T>A (p.Leu133His) | |
11 | g.45806199T>C | CA380202896 | SLC35C1 | c.359T>C (p.Leu120Pro) c.398T>C (p.Leu133Pro) | |
11 | g.45806199T>G | CA380202897 | SLC35C1 | c.359T>G (p.Leu120Arg) c.398T>G (p.Leu133Arg) | |
11 | g.45806200C>A | CA474036650 | SLC35C1 | c.360C>A (p.Leu120=) c.399C>A (p.Leu133=) | gnomAD v4 |
11 | g.45806200C>G | CA474036652 | SLC35C1 | c.360C>G (p.Leu120=) c.399C>G (p.Leu133=) | |
11 | g.45806200C>T | CA474036651 | SLC35C1 | c.360C>T (p.Leu120=) c.399C>T (p.Leu133=) | |
11 | g.45806201T>A | CA380202898 | SLC35C1 | c.361T>A (p.Cys121Ser) c.400T>A (p.Cys134Ser) | |
11 | g.45806201T>C | CA5958237 | SLC35C1 | c.361T>C (p.Cys121Arg) c.400T>C (p.Cys134Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806201T>G | CA380202899 | SLC35C1 | c.361T>G (p.Cys121Gly) c.400T>G (p.Cys134Gly) | |
11 | g.45806201T= | CA1968693060 | SLC35C1 | c.361T= (p.Cys121=) c.400T= (p.Cys134=) | |
11 | g.45806202G>A | CA380202900 | SLC35C1 | c.362G>A (p.Cys121Tyr) c.401G>A (p.Cys134Tyr) | |
11 | g.45806202G>C | CA380202901 | SLC35C1 | c.362G>C (p.Cys121Ser) c.401G>C (p.Cys134Ser) | gnomAD v4 |
11 | g.45806202G>T | CA380202902 | SLC35C1 | c.362G>T (p.Cys121Phe) c.401G>T (p.Cys134Phe) | gnomAD v4 |
11 | g.45806203C>A | CA380202903 | SLC35C1 | c.363C>A (p.Cys121Ter) c.402C>A (p.Cys134Ter) | |
11 | g.45806203C= | CA1968693061 | SLC35C1 | c.363C= (p.Cys121=) c.402C= (p.Cys134=) | |
11 | g.45806203C>G | CA380202904 | SLC35C1 | c.363C>G (p.Cys121Trp) c.402C>G (p.Cys134Trp) | |
11 | g.45806203C>T | CA221585394 | SLC35C1 | c.363C>T (p.Cys121=) c.402C>T (p.Cys134=) | ClinVar dbSNP |
11 | g.45806204C>A | CA380202907 | SLC35C1 | c.364C>A (p.Leu122Ile) c.403C>A (p.Leu135Ile) | |
11 | g.45806204C>G | CA380202906 | SLC35C1 | c.364C>G (p.Leu122Val) c.403C>G (p.Leu135Val) | |
11 | g.45806204C>T | CA380202905 | SLC35C1 | c.364C>T (p.Leu122Phe) c.403C>T (p.Leu135Phe) | |
11 | g.45806205T>A | CA380202908 | SLC35C1 | c.365T>A (p.Leu122His) c.404T>A (p.Leu135His) | |
11 | g.45806205T>C | CA380202909 | SLC35C1 | c.365T>C (p.Leu122Pro) c.404T>C (p.Leu135Pro) | |
11 | g.45806205T>G | CA380202910 | SLC35C1 | c.365T>G (p.Leu122Arg) c.404T>G (p.Leu135Arg) | |
11 | g.45806206C>A | CA474036653 | SLC35C1 | c.366C>A (p.Leu122=) c.405C>A (p.Leu135=) | |
11 | g.45806206C>G | CA474036654 | SLC35C1 | c.366C>G (p.Leu122=) c.405C>G (p.Leu135=) | |
11 | g.45806206C>T | CA474036655 | SLC35C1 | c.366C>T (p.Leu122=) c.405C>T (p.Leu135=) | gnomAD v4 |
11 | g.45806207A>C | CA380202911 | SLC35C1 | c.367A>C (p.Lys123Gln) c.406A>C (p.Lys136Gln) | |
11 | g.45806207A>G | CA380202912 | SLC35C1 | c.367A>G (p.Lys123Glu) c.406A>G (p.Lys136Glu) | gnomAD v4 |
11 | g.45806207A>T | CA380202913 | SLC35C1 | c.367A>T (p.Lys123Ter) c.406A>T (p.Lys136Ter) | |
11 | g.45806208A= | CA1968693062 | SLC35C1 | c.368A= (p.Lys123=) c.407A= (p.Lys136=) | |
11 | g.45806208A>C | CA380202914 | SLC35C1 | c.368A>C (p.Lys123Thr) c.407A>C (p.Lys136Thr) | |
11 | g.45806208A>G | CA5958238 | SLC35C1 | c.368A>G (p.Lys123Arg) c.407A>G (p.Lys136Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806208A>T | CA380202915 | SLC35C1 | c.368A>T (p.Lys123Met) c.407A>T (p.Lys136Met) | |
11 | g.45806209G>A | CA474036656 | SLC35C1 | c.369G>A (p.Lys123=) c.408G>A (p.Lys136=) | ClinVar dbSNP |
11 | g.45806209G>C | CA380202916 | SLC35C1 | c.369G>C (p.Lys123Asn) c.408G>C (p.Lys136Asn) | |
11 | g.45806209G= | CA1968693063 | SLC35C1 | c.369G= (p.Lys123=) c.408G= (p.Lys136=) | |
11 | g.45806209G>T | CA380202917 | SLC35C1 | c.369G>T (p.Lys123Asn) c.408G>T (p.Lys136Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806211_45806214del | CA2613258209 | SLC35C1 | c.371_374del (p.Tyr124SerfsTer?) c.410_413del (p.Tyr137SerfsTer?) | gnomAD v4 |
11 | g.45806210T>A | CA380202918 | SLC35C1 | c.370T>A (p.Tyr124Asn) c.409T>A (p.Tyr137Asn) | |
11 | g.45806210T>C | CA380202919 | SLC35C1 | c.370T>C (p.Tyr124His) c.409T>C (p.Tyr137His) | |
11 | g.45806210T>G | CA380202920 | SLC35C1 | c.370T>G (p.Tyr124Asp) c.409T>G (p.Tyr137Asp) | |
11 | g.45806211A= | CA1968693064 | SLC35C1 | c.371A= (p.Tyr124=) c.410A= (p.Tyr137=) | |
11 | g.45806211A>C | CA380202921 | SLC35C1 | c.371A>C (p.Tyr124Ser) c.410A>C (p.Tyr137Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806211A>G | CA380202922 | SLC35C1 | c.371A>G (p.Tyr124Cys) c.410A>G (p.Tyr137Cys) | |
11 | g.45806211A>T | CA380202923 | SLC35C1 | c.371A>T (p.Tyr124Phe) c.410A>T (p.Tyr137Phe) | |
11 | g.45806212C>A | CA380202924 | SLC35C1 | c.372C>A (p.Tyr124Ter) c.411C>A (p.Tyr137Ter) | |
11 | g.45806212C= | CA1968693065 | SLC35C1 | c.372C= (p.Tyr124=) c.411C= (p.Tyr137=) | |
11 | g.45806212C>G | CA380202925 | SLC35C1 | c.372C>G (p.Tyr124Ter) c.411C>G (p.Tyr137Ter) | |
11 | g.45806212C>T | CA474036657 | SLC35C1 | c.372C>T (p.Tyr124=) c.411C>T (p.Tyr137=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806213G>A | CA380202926 | SLC35C1 | c.373G>A (p.Val125Ile) c.412G>A (p.Val138Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.45806213G>C | CA380202928 | SLC35C1 | c.373G>C (p.Val125Leu) c.412G>C (p.Val138Leu) | |
11 | g.45806213G= | CA1968693066 | SLC35C1 | c.373G= (p.Val125=) c.412G= (p.Val138=) | |
11 | g.45806213G>T | CA380202927 | SLC35C1 | c.373G>T (p.Val125Phe) c.412G>T (p.Val138Phe) | gnomAD v4 |
11 | g.45806214T>A | CA380202929 | SLC35C1 | c.374T>A (p.Val125Asp) c.413T>A (p.Val138Asp) | |
11 | g.45806214T>C | CA380202931 | SLC35C1 | c.374T>C (p.Val125Ala) c.413T>C (p.Val138Ala) | |
11 | g.45806214T>G | CA380202930 | SLC35C1 | c.374T>G (p.Val125Gly) c.413T>G (p.Val138Gly) | |
11 | g.45806215C>A | CA474036658 | SLC35C1 | c.375C>A (p.Val125=) c.414C>A (p.Val138=) | dbSNP gnomAD v4 |
11 | g.45806215C= | CA1968693067 | SLC35C1 | c.375C= (p.Val125=) c.414C= (p.Val138=) | |
11 | g.45806215C>G | CA474036659 | SLC35C1 | c.375C>G (p.Val125=) c.414C>G (p.Val138=) | dbSNP |
11 | g.45806215C>T | CA474036660 | SLC35C1 | c.375C>T (p.Val125=) c.414C>T (p.Val138=) | dbSNP gnomAD v4 |
11 | g.45806216G>A | CA380202932 | SLC35C1 | c.376G>A (p.Gly126Ser) c.415G>A (p.Gly139Ser) | gnomAD v4 |
11 | g.45806216G>C | CA380202933 | SLC35C1 | c.376G>C (p.Gly126Arg) c.415G>C (p.Gly139Arg) | |
11 | g.45806216G>T | CA380202934 | SLC35C1 | c.376G>T (p.Gly126Cys) c.415G>T (p.Gly139Cys) | gnomAD v4 COSMIC |
11 | g.45806217G>A | CA380202935 | SLC35C1 | c.377G>A (p.Gly126Asp) c.416G>A (p.Gly139Asp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45806217G>C | CA380202936 | SLC35C1 | c.377G>C (p.Gly126Ala) c.416G>C (p.Gly139Ala) | |
11 | g.45806217G= | CA1968693068 | SLC35C1 | c.377G= (p.Gly126=) c.416G= (p.Gly139=) | |
11 | g.45806217G>T | CA380202937 | SLC35C1 | c.377G>T (p.Gly126Val) c.416G>T (p.Gly139Val) | gnomAD v4 |
11 | g.45806218T>A | CA474036661 | SLC35C1 | c.378T>A (p.Gly126=) c.417T>A (p.Gly139=) | |
11 | g.45806218T>C | CA474036662 | SLC35C1 | c.378T>C (p.Gly126=) c.417T>C (p.Gly139=) | |
11 | g.45806218T>G | CA474036663 | SLC35C1 | c.378T>G (p.Gly126=) c.417T>G (p.Gly139=) | |
11 | g.45806219G>A | CA380202940 | SLC35C1 | c.379G>A (p.Val127Met) c.418G>A (p.Val140Met) | |
11 | g.45806219G>C | CA380202939 | SLC35C1 | c.379G>C (p.Val127Leu) c.418G>C (p.Val140Leu) | |
11 | g.45806219G>T | CA380202938 | SLC35C1 | c.379G>T (p.Val127Leu) c.418G>T (p.Val140Leu) | |
11 | g.45806220T>A | CA380202941 | SLC35C1 | c.380T>A (p.Val127Glu) c.419T>A (p.Val140Glu) | |
11 | g.45806220T>C | CA380202942 | SLC35C1 | c.380T>C (p.Val127Ala) c.419T>C (p.Val140Ala) | gnomAD v4 |
11 | g.45806220T>G | CA380202943 | SLC35C1 | c.380T>G (p.Val127Gly) c.419T>G (p.Val140Gly) | |
11 | g.45806221G>A | CA474036664 | SLC35C1 | c.381G>A (p.Val127=) c.420G>A (p.Val140=) | |
11 | g.45806221G>C | CA474036666 | SLC35C1 | c.381G>C (p.Val127=) c.420G>C (p.Val140=) | |
11 | g.45806221G>T | CA474036665 | SLC35C1 | c.381G>T (p.Val127=) c.420G>T (p.Val140=) | gnomAD v4 |
11 | g.45806222del | CA2613258210 | SLC35C1 | c.382del (p.Ala128ProfsTer?) c.421del (p.Ala141ProfsTer?) | gnomAD v4 |
11 | g.45806222G>A | CA380202944 | SLC35C1 | c.382G>A (p.Ala128Thr) c.421G>A (p.Ala141Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806222G>C | CA380202945 | SLC35C1 | c.382G>C (p.Ala128Pro) c.421G>C (p.Ala141Pro) | |
11 | g.45806222G= | CA1968693069 | SLC35C1 | c.382G= (p.Ala128=) c.421G= (p.Ala141=) | |
11 | g.45806222G>T | CA380202946 | SLC35C1 | c.382G>T (p.Ala128Ser) c.421G>T (p.Ala141Ser) | gnomAD v4 |
11 | g.45806223C>A | CA380202947 | SLC35C1 | c.383C>A (p.Ala128Asp) c.422C>A (p.Ala141Asp) | gnomAD v4 |
11 | g.45806223C= | CA1968693070 | SLC35C1 | c.383C= (p.Ala128=) c.422C= (p.Ala141=) | |
11 | g.45806223C>G | CA380202948 | SLC35C1 | c.383C>G (p.Ala128Gly) c.422C>G (p.Ala141Gly) | |
11 | g.45806223C>T | CA5958239 | SLC35C1 | c.383C>T (p.Ala128Val) c.422C>T (p.Ala141Val) | dbSNP ExAC gnomAD v2 |
11 | g.45806224C>A | CA474036668 | SLC35C1 | c.384C>A (p.Ala128=) c.423C>A (p.Ala141=) | |
11 | g.45806224C= | CA1968693071 | SLC35C1 | c.384C= (p.Ala128=) c.423C= (p.Ala141=) | |
11 | g.45806224C>G | CA474036669 | SLC35C1 | c.384C>G (p.Ala128=) c.423C>G (p.Ala141=) | |
11 | g.45806224C>T | CA474036671 | SLC35C1 | c.384C>T (p.Ala128=) c.423C>T (p.Ala141=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806225T>A | CA380202949 | SLC35C1 | c.385T>A (p.Phe129Ile) c.424T>A (p.Phe142Ile) | |
11 | g.45806225T>C | CA380202950 | SLC35C1 | c.385T>C (p.Phe129Leu) c.424T>C (p.Phe142Leu) | |
11 | g.45806225T>G | CA380202951 | SLC35C1 | c.385T>G (p.Phe129Val) c.424T>G (p.Phe142Val) | |
11 | g.45806226T>A | CA380202952 | SLC35C1 | c.386T>A (p.Phe129Tyr) c.425T>A (p.Phe142Tyr) | |
11 | g.45806226T>C | CA380202953 | SLC35C1 | c.386T>C (p.Phe129Ser) c.425T>C (p.Phe142Ser) | |
11 | g.45806226T>G | CA380202954 | SLC35C1 | c.386T>G (p.Phe129Cys) c.425T>G (p.Phe142Cys) | |
11 | g.45806227C>A | CA380202955 | SLC35C1 | c.387C>A (p.Phe129Leu) c.426C>A (p.Phe142Leu) | |
11 | g.45806227C>G | CA380202956 | SLC35C1 | c.387C>G (p.Phe129Leu) c.426C>G (p.Phe142Leu) | |
11 | g.45806227C>T | CA474036673 | SLC35C1 | c.387C>T (p.Phe129=) c.426C>T (p.Phe142=) | |
11 | g.45806228T>A | CA380202957 | SLC35C1 | c.388T>A (p.Tyr130Asn) c.427T>A (p.Tyr143Asn) | |
11 | g.45806228T>C | CA380202958 | SLC35C1 | c.388T>C (p.Tyr130His) c.427T>C (p.Tyr143His) | |
11 | g.45806228T>G | CA380202959 | SLC35C1 | c.388T>G (p.Tyr130Asp) c.427T>G (p.Tyr143Asp) | |
11 | g.45806229A>C | CA380202960 | SLC35C1 | c.389A>C (p.Tyr130Ser) c.428A>C (p.Tyr143Ser) | |
11 | g.45806229A>G | CA380202962 | SLC35C1 | c.389A>G (p.Tyr130Cys) c.428A>G (p.Tyr143Cys) | gnomAD v4 |
11 | g.45806229A>T | CA380202961 | SLC35C1 | c.389A>T (p.Tyr130Phe) c.428A>T (p.Tyr143Phe) | |
11 | g.45806230C>A | CA380202963 | SLC35C1 | c.390C>A (p.Tyr130Ter) c.429C>A (p.Tyr143Ter) | dbSNP gnomAD v4 |
11 | g.45806230C= | CA1968693072 | SLC35C1 | c.390C= (p.Tyr130=) c.429C= (p.Tyr143=) | |
11 | g.45806230C>G | CA380202964 | SLC35C1 | c.390C>G (p.Tyr130Ter) c.429C>G (p.Tyr143Ter) | |
11 | g.45806230C>T | CA474036675 | SLC35C1 | c.390C>T (p.Tyr130=) c.429C>T (p.Tyr143=) | |
11 | g.45806231A>C | CA380202965 | SLC35C1 | c.391A>C (p.Asn131His) c.430A>C (p.Asn144His) | |
11 | g.45806231A>G | CA380202966 | SLC35C1 | c.391A>G (p.Asn131Asp) c.430A>G (p.Asn144Asp) | gnomAD v4 |
11 | g.45806231A>T | CA380202967 | SLC35C1 | c.391A>T (p.Asn131Tyr) c.430A>T (p.Asn144Tyr) | |
11 | g.45806232A= | CA1968693073 | SLC35C1 | c.392A= (p.Asn131=) c.431A= (p.Asn144=) | |
11 | g.45806232A>C | CA380202968 | SLC35C1 | c.392A>C (p.Asn131Thr) c.431A>C (p.Asn144Thr) | |
11 | g.45806232A>G | CA5958240 | SLC35C1 | c.392A>G (p.Asn131Ser) c.431A>G (p.Asn144Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806232A>T | CA380202969 | SLC35C1 | c.392A>T (p.Asn131Ile) c.431A>T (p.Asn144Ile) | |
11 | g.45806233T>A | CA380202970 | SLC35C1 | c.393T>A (p.Asn131Lys) c.432T>A (p.Asn144Lys) | |
11 | g.45806233T>C | CA474036678 | SLC35C1 | c.393T>C (p.Asn131=) c.432T>C (p.Asn144=) | |
11 | g.45806233T>G | CA380202971 | SLC35C1 | c.393T>G (p.Asn131Lys) c.432T>G (p.Asn144Lys) | |
11 | g.45806234G>A | CA5958241 | SLC35C1 | c.394G>A (p.Val132Met) c.433G>A (p.Val145Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806234G>C | CA380202972 | SLC35C1 | c.394G>C (p.Val132Leu) c.433G>C (p.Val145Leu) | |
11 | g.45806234G= | CA1968693074 | SLC35C1 | c.394G= (p.Val132=) c.433G= (p.Val145=) | |
11 | g.45806234G>T | CA380202973 | SLC35C1 | c.394G>T (p.Val132Leu) c.433G>T (p.Val145Leu) | gnomAD v4 COSMIC |
11 | g.45806235T>A | CA380202974 | SLC35C1 | c.395T>A (p.Val132Glu) c.434T>A (p.Val145Glu) | |
11 | g.45806235T>C | CA380202976 | SLC35C1 | c.395T>C (p.Val132Ala) c.434T>C (p.Val145Ala) | gnomAD v4 |
11 | g.45806235T>G | CA380202975 | SLC35C1 | c.395T>G (p.Val132Gly) c.434T>G (p.Val145Gly) | |
11 | g.45806236G>A | CA474036681 | SLC35C1 | c.396G>A (p.Val132=) c.435G>A (p.Val145=) | |
11 | g.45806236G>C | CA474036682 | SLC35C1 | c.396G>C (p.Val132=) c.435G>C (p.Val145=) | |
11 | g.45806236G>T | CA474036683 | SLC35C1 | c.396G>T (p.Val132=) c.435G>T (p.Val145=) | |
11 | g.45806238del | CA2613258211 | SLC35C1 | c.398del (p.Gly133AlafsTer?) c.437del (p.Gly146AlafsTer?) | gnomAD v4 |
11 | g.45806237G>A | CA380202977 | SLC35C1 | c.397G>A (p.Gly133Ser) c.436G>A (p.Gly146Ser) | |
11 | g.45806237G>C | CA380202978 | SLC35C1 | c.397G>C (p.Gly133Arg) c.436G>C (p.Gly146Arg) | |
11 | g.45806237G>T | CA380202979 | SLC35C1 | c.397G>T (p.Gly133Cys) c.436G>T (p.Gly146Cys) | gnomAD v4 |
11 | g.45806238G>A | CA380202980 | SLC35C1 | c.398G>A (p.Gly133Asp) c.437G>A (p.Gly146Asp) | |
11 | g.45806238G>C | CA380202981 | SLC35C1 | c.398G>C (p.Gly133Ala) c.437G>C (p.Gly146Ala) | |
11 | g.45806238G>T | CA380202982 | SLC35C1 | c.398G>T (p.Gly133Val) c.437G>T (p.Gly146Val) | |
11 | g.45806239C>A | CA474036685 | SLC35C1 | c.399C>A (p.Gly133=) c.438C>A (p.Gly146=) | |
11 | g.45806239C= | CA1968693075 | SLC35C1 | c.399C= (p.Gly133=) c.438C= (p.Gly146=) | |
11 | g.45806239C>G | CA474036687 | SLC35C1 | c.399C>G (p.Gly133=) c.438C>G (p.Gly146=) | |
11 | g.45806239C>T | CA474036688 | SLC35C1 | c.399C>T (p.Gly133=) c.438C>T (p.Gly146=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806240C>A | CA380202983 | SLC35C1 | c.400C>A (p.Arg134Ser) c.439C>A (p.Arg147Ser) | |
11 | g.45806240C= | CA1968693076 | SLC35C1 | c.400C= (p.Arg134=) c.439C= (p.Arg147=) | |
11 | g.45806240C>G | CA380202984 | SLC35C1 | c.400C>G (p.Arg134Gly) c.439C>G (p.Arg147Gly) | |
11 | g.45806240C>T | CA253271 | SLC35C1 | c.400C>T (p.Arg134Cys) c.439C>T (p.Arg147Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.45806241G>A | CA10639159 | SLC35C1 | c.401G>A (p.Arg134His) c.440G>A (p.Arg147His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806241G>C | CA380202986 | SLC35C1 | c.401G>C (p.Arg134Pro) c.440G>C (p.Arg147Pro) | |
11 | g.45806241G= | CA1968693077 | SLC35C1 | c.401G= (p.Arg134=) c.440G= (p.Arg147=) | |
11 | g.45806241G>T | CA380202985 | SLC35C1 | c.401G>T (p.Arg134Leu) c.440G>T (p.Arg147Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806242C>A | CA474036690 | SLC35C1 | c.402C>A (p.Arg134=) c.441C>A (p.Arg147=) | |
11 | g.45806242C>G | CA474036691 | SLC35C1 | c.402C>G (p.Arg134=) c.441C>G (p.Arg147=) | |
11 | g.45806242C>T | CA474036692 | SLC35C1 | c.402C>T (p.Arg134=) c.441C>T (p.Arg147=) | |
11 | g.45806247_45806250del | CA2613258212 | SLC35C1 | c.407_410del (p.Leu136ProfsTer?) c.446_449del (p.Leu149ProfsTer?) | gnomAD v4 |
11 | g.45806243T>A | CA380202987 | SLC35C1 | c.403T>A (p.Ser135Thr) c.442T>A (p.Ser148Thr) | |
11 | g.45806243T>C | CA380202989 | SLC35C1 | c.403T>C (p.Ser135Pro) c.442T>C (p.Ser148Pro) | |
11 | g.45806243T>G | CA380202988 | SLC35C1 | c.403T>G (p.Ser135Ala) c.442T>G (p.Ser148Ala) | |
11 | g.45806244C>A | CA380202990 | SLC35C1 | c.404C>A (p.Ser135Ter) c.443C>A (p.Ser148Ter) | |
11 | g.45806244C>G | CA380202991 | SLC35C1 | c.404C>G (p.Ser135Ter) c.443C>G (p.Ser148Ter) | |
11 | g.45806244C>T | CA380202992 | SLC35C1 | c.404C>T (p.Ser135Leu) c.443C>T (p.Ser148Leu) | |
11 | g.45806245A= | CA1968693078 | SLC35C1 | c.405A= (p.Ser135=) c.444A= (p.Ser148=) | |
11 | g.45806245A>C | CA474036696 | SLC35C1 | c.405A>C (p.Ser135=) c.444A>C (p.Ser148=) | |
11 | g.45806245A>G | CA5958242 | SLC35C1 | c.405A>G (p.Ser135=) c.444A>G (p.Ser148=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806245A>T | CA474036697 | SLC35C1 | c.405A>T (p.Ser135=) c.444A>T (p.Ser148=) | |
11 | g.45806246C>A | CA380202993 | SLC35C1 | c.406C>A (p.Leu136Ile) c.445C>A (p.Leu149Ile) | |
11 | g.45806246C>G | CA380202994 | SLC35C1 | c.406C>G (p.Leu136Val) c.445C>G (p.Leu149Val) | |
11 | g.45806246C>T | CA380202995 | SLC35C1 | c.406C>T (p.Leu136Phe) c.445C>T (p.Leu149Phe) | |
11 | g.45806247T>A | CA380202996 | SLC35C1 | c.407T>A (p.Leu136His) c.446T>A (p.Leu149His) | |
11 | g.45806247T>C | CA380202997 | SLC35C1 | c.407T>C (p.Leu136Pro) c.446T>C (p.Leu149Pro) | |
11 | g.45806247T>G | CA380202998 | SLC35C1 | c.407T>G (p.Leu136Arg) c.446T>G (p.Leu149Arg) | |
11 | g.45806248C>A | CA474036698 | SLC35C1 | c.408C>A (p.Leu136=) c.447C>A (p.Leu149=) | |
11 | g.45806248C= | CA1968693079 | SLC35C1 | c.408C= (p.Leu136=) c.447C= (p.Leu149=) | |
11 | g.45806248C>G | CA474036699 | SLC35C1 | c.408C>G (p.Leu136=) c.447C>G (p.Leu149=) | |
11 | g.45806248C>T | CA474036700 | SLC35C1 | c.408C>T (p.Leu136=) c.447C>T (p.Leu149=) | ClinVar dbSNP gnomAD v4 |
11 | g.45806249A>C | CA380202999 | SLC35C1 | c.409A>C (p.Thr137Pro) c.448A>C (p.Thr150Pro) | |
11 | g.45806249A>G | CA380203000 | SLC35C1 | c.409A>G (p.Thr137Ala) c.448A>G (p.Thr150Ala) | |
11 | g.45806249A>T | CA380203001 | SLC35C1 | c.409A>T (p.Thr137Ser) c.448A>T (p.Thr150Ser) | |
11 | g.45806250C>A | CA380203002 | SLC35C1 | c.410C>A (p.Thr137Asn) c.449C>A (p.Thr150Asn) | |
11 | g.45806250C>G | CA380203004 | SLC35C1 | c.410C>G (p.Thr137Ser) c.449C>G (p.Thr150Ser) | |
11 | g.45806250C>T | CA380203003 | SLC35C1 | c.410C>T (p.Thr137Ile) c.449C>T (p.Thr150Ile) | |
11 | g.45806251C>A | CA474036703 | SLC35C1 | c.411C>A (p.Thr137=) c.450C>A (p.Thr150=) | |
11 | g.45806251C= | CA1968693080 | SLC35C1 | c.411C= (p.Thr137=) c.450C= (p.Thr150=) | |
11 | g.45806251C>G | CA474036704 | SLC35C1 | c.411C>G (p.Thr137=) c.450C>G (p.Thr150=) | |
11 | g.45806251C>T | CA5958243 | SLC35C1 | c.411C>T (p.Thr137=) c.450C>T (p.Thr150=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806252A>C | CA380203005 | SLC35C1 | c.412A>C (p.Thr138Pro) c.451A>C (p.Thr151Pro) | |
11 | g.45806252A>G | CA380203006 | SLC35C1 | c.412A>G (p.Thr138Ala) c.451A>G (p.Thr151Ala) | |
11 | g.45806252A>T | CA380203007 | SLC35C1 | c.412A>T (p.Thr138Ser) c.451A>T (p.Thr151Ser) | |
11 | g.45806253C>A | CA380203008 | SLC35C1 | c.413C>A (p.Thr138Asn) c.452C>A (p.Thr151Asn) | |
11 | g.45806253C>G | CA380203009 | SLC35C1 | c.413C>G (p.Thr138Ser) c.452C>G (p.Thr151Ser) | |
11 | g.45806253C>T | CA380203010 | SLC35C1 | c.413C>T (p.Thr138Ile) c.452C>T (p.Thr151Ile) | |
11 | g.45806254C>A | CA474036706 | SLC35C1 | c.414C>A (p.Thr138=) c.453C>A (p.Thr151=) | |
11 | g.45806254C= | CA1968693081 | SLC35C1 | c.414C= (p.Thr138=) c.453C= (p.Thr151=) | |
11 | g.45806254C>G | CA474036707 | SLC35C1 | c.414C>G (p.Thr138=) c.453C>G (p.Thr151=) | gnomAD v4 |
11 | g.45806254C>T | CA474036708 | SLC35C1 | c.414C>T (p.Thr138=) c.453C>T (p.Thr151=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806255G>A | CA5958244 | SLC35C1 | c.415G>A (p.Val139Ile) c.454G>A (p.Val152Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806255G>C | CA380203011 | SLC35C1 | c.415G>C (p.Val139Leu) c.454G>C (p.Val152Leu) | |
11 | g.45806255G= | CA1968693082 | SLC35C1 | c.415G= (p.Val139=) c.454G= (p.Val152=) | |
11 | g.45806255G>T | CA380203012 | SLC35C1 | c.415G>T (p.Val139Phe) c.454G>T (p.Val152Phe) | gnomAD v4 |
11 | g.45806256T>A | CA380203015 | SLC35C1 | c.416T>A (p.Val139Asp) c.455T>A (p.Val152Asp) | |
11 | g.45806256T>C | CA380203014 | SLC35C1 | c.416T>C (p.Val139Ala) c.455T>C (p.Val152Ala) | |
11 | g.45806256T>G | CA380203013 | SLC35C1 | c.416T>G (p.Val139Gly) c.455T>G (p.Val152Gly) | |
11 | g.45806257C>A | CA474036710 | SLC35C1 | c.417C>A (p.Val139=) c.456C>A (p.Val152=) | |
11 | g.45806257C>G | CA474036711 | SLC35C1 | c.417C>G (p.Val139=) c.456C>G (p.Val152=) | |
11 | g.45806257C>T | CA474036712 | SLC35C1 | c.417C>T (p.Val139=) c.456C>T (p.Val152=) | gnomAD v4 |
11 | g.45806258T>A | CA380203016 | SLC35C1 | c.418T>A (p.Phe140Ile) c.457T>A (p.Phe153Ile) | |
11 | g.45806258T>C | CA380203017 | SLC35C1 | c.418T>C (p.Phe140Leu) c.457T>C (p.Phe153Leu) | |
11 | g.45806258T>G | CA380203018 | SLC35C1 | c.418T>G (p.Phe140Val) c.457T>G (p.Phe153Val) | gnomAD v4 |
11 | g.45806259T>A | CA380203019 | SLC35C1 | c.419T>A (p.Phe140Tyr) c.458T>A (p.Phe153Tyr) | |
11 | g.45806259T>C | CA380203020 | SLC35C1 | c.419T>C (p.Phe140Ser) c.458T>C (p.Phe153Ser) | |
11 | g.45806259T>G | CA380203021 | SLC35C1 | c.419T>G (p.Phe140Cys) c.458T>G (p.Phe153Cys) | |
11 | g.45806260C>A | CA380203022 | SLC35C1 | c.420C>A (p.Phe140Leu) c.459C>A (p.Phe153Leu) | |
11 | g.45806260C= | CA1968693083 | SLC35C1 | c.420C= (p.Phe140=) c.459C= (p.Phe153=) | |
11 | g.45806260C>G | CA380203023 | SLC35C1 | c.420C>G (p.Phe140Leu) c.459C>G (p.Phe153Leu) | |
11 | g.45806260C>T | CA474036713 | SLC35C1 | c.420C>T (p.Phe140=) c.459C>T (p.Phe153=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806261A>C | CA380203024 | SLC35C1 | c.421A>C (p.Asn141His) c.460A>C (p.Asn154His) | |
11 | g.45806261A>G | CA380203025 | SLC35C1 | c.421A>G (p.Asn141Asp) c.460A>G (p.Asn154Asp) | |
11 | g.45806261A>T | CA380203026 | SLC35C1 | c.421A>T (p.Asn141Tyr) c.460A>T (p.Asn154Tyr) | |
11 | g.45806262A>C | CA380203027 | SLC35C1 | c.422A>C (p.Asn141Thr) c.461A>C (p.Asn154Thr) | ClinVar |
11 | g.45806262A>G | CA380203028 | SLC35C1 | c.422A>G (p.Asn141Ser) c.461A>G (p.Asn154Ser) | gnomAD v4 |
11 | g.45806262A>T | CA380203029 | SLC35C1 | c.422A>T (p.Asn141Ile) c.461A>T (p.Asn154Ile) | |
11 | g.45806263C>A | CA380203030 | SLC35C1 | c.423C>A (p.Asn141Lys) c.462C>A (p.Asn154Lys) | |
11 | g.45806263C>G | CA380203031 | SLC35C1 | c.423C>G (p.Asn141Lys) c.462C>G (p.Asn154Lys) | |
11 | g.45806263C>T | CA474036721 | SLC35C1 | c.423C>T (p.Asn141=) c.462C>T (p.Asn154=) | gnomAD v4 COSMIC |
11 | g.45806264G>A | CA380203032 | SLC35C1 | c.424G>A (p.Val142Met) c.463G>A (p.Val155Met) | |
11 | g.45806264G>C | CA380203033 | SLC35C1 | c.424G>C (p.Val142Leu) c.463G>C (p.Val155Leu) | |
11 | g.45806264G>T | CA380203034 | SLC35C1 | c.424G>T (p.Val142Leu) c.463G>T (p.Val155Leu) | gnomAD v4 |
11 | g.45806265T>A | CA380203035 | SLC35C1 | c.425T>A (p.Val142Glu) c.464T>A (p.Val155Glu) | |
11 | g.45806265T>C | CA380203036 | SLC35C1 | c.425T>C (p.Val142Ala) c.464T>C (p.Val155Ala) | |
11 | g.45806265T>G | CA380203037 | SLC35C1 | c.425T>G (p.Val142Gly) c.464T>G (p.Val155Gly) | |
11 | g.45806269_45806271dup | CA2580615664 | SLC35C1 | c.429_431dup (p.Leu144_Ser145insLeu) c.468_470dup (p.Leu157_Ser158insLeu) | ClinVar dbSNP |
11 | g.45806266G>A | CA474036726 | SLC35C1 | c.426G>A (p.Val142=) c.465G>A (p.Val155=) | gnomAD v4 |
11 | g.45806266G>C | CA474036728 | SLC35C1 | c.426G>C (p.Val142=) c.465G>C (p.Val155=) | |
11 | g.45806266G>T | CA474036731 | SLC35C1 | c.426G>T (p.Val142=) c.465G>T (p.Val155=) | gnomAD v4 |
11 | g.45806267C>A | CA380203038 | SLC35C1 | c.427C>A (p.Leu143Met) c.466C>A (p.Leu156Met) | |
11 | g.45806267C>G | CA380203039 | SLC35C1 | c.427C>G (p.Leu143Val) c.466C>G (p.Leu156Val) | |
11 | g.45806267C>T | CA474036733 | SLC35C1 | c.427C>T (p.Leu143=) c.466C>T (p.Leu156=) | |
11 | g.45806268T>A | CA380203040 | SLC35C1 | c.428T>A (p.Leu143Gln) c.467T>A (p.Leu156Gln) | |
11 | g.45806268T>C | CA380203041 | SLC35C1 | c.428T>C (p.Leu143Pro) c.467T>C (p.Leu156Pro) | |
11 | g.45806268T>G | CA380203042 | SLC35C1 | c.428T>G (p.Leu143Arg) c.467T>G (p.Leu156Arg) | |
11 | g.45806269G>A | CA474036735 | SLC35C1 | c.429G>A (p.Leu143=) c.468G>A (p.Leu156=) | |
11 | g.45806269G>C | CA474036737 | SLC35C1 | c.429G>C (p.Leu143=) c.468G>C (p.Leu156=) | |
11 | g.45806269G>T | CA474036739 | SLC35C1 | c.429G>T (p.Leu143=) c.468G>T (p.Leu156=) | gnomAD v4 |
11 | g.45806270C>A | CA380203044 | SLC35C1 | c.430C>A (p.Leu144Ile) c.469C>A (p.Leu157Ile) | |
11 | g.45806270C= | CA1968693084 | SLC35C1 | c.430C= (p.Leu144=) c.469C= (p.Leu157=) | |
11 | g.45806270C>G | CA380203043 | SLC35C1 | c.430C>G (p.Leu144Val) c.469C>G (p.Leu157Val) | |
11 | g.45806270C>T | CA5958245 | SLC35C1 | c.430C>T (p.Leu144Phe) c.469C>T (p.Leu157Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806271T>A | CA380203045 | SLC35C1 | c.431T>A (p.Leu144His) c.470T>A (p.Leu157His) | |
11 | g.45806271T>C | CA5958246 | SLC35C1 | c.431T>C (p.Leu144Pro) c.470T>C (p.Leu157Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806271T>G | CA380203046 | SLC35C1 | c.431T>G (p.Leu144Arg) c.470T>G (p.Leu157Arg) | |
11 | g.45806271T= | CA1968693085 | SLC35C1 | c.431T= (p.Leu144=) c.470T= (p.Leu157=) | |
11 | g.45806272C>A | CA474036745 | SLC35C1 | c.432C>A (p.Leu144=) c.471C>A (p.Leu157=) | |
11 | g.45806272C= | CA1968693086 | SLC35C1 | c.432C= (p.Leu144=) c.471C= (p.Leu157=) | |
11 | g.45806272C>G | CA474036746 | SLC35C1 | c.432C>G (p.Leu144=) c.471C>G (p.Leu157=) | gnomAD v4 |
11 | g.45806272C>T | CA474036744 | SLC35C1 | c.432C>T (p.Leu144=) c.471C>T (p.Leu157=) | dbSNP gnomAD v2 |
11 | g.45806274_45806276del | CA645584493 | SLC35C1 | c.434_436del (p.Ser145del) c.473_475del (p.Ser158del) | COSMIC |
11 | g.45806273T>A | CA380203047 | SLC35C1 | c.433T>A (p.Ser145Thr) c.472T>A (p.Ser158Thr) | |
11 | g.45806273T>C | CA380203048 | SLC35C1 | c.433T>C (p.Ser145Pro) c.472T>C (p.Ser158Pro) | |
11 | g.45806273T>G | CA380203049 | SLC35C1 | c.433T>G (p.Ser145Ala) c.472T>G (p.Ser158Ala) | |
11 | g.45806273T= | CA1968693087 | SLC35C1 | c.433T= (p.Ser145=) c.472T= (p.Ser158=) | |
11 | g.45806274C>A | CA380203050 | SLC35C1 | c.434C>A (p.Ser145Tyr) c.473C>A (p.Ser158Tyr) | |
11 | g.45806274C= | CA1968693089 | SLC35C1 | c.434C= (p.Ser145=) c.473C= (p.Ser158=) | |
11 | g.45806274C>G | CA380203051 | SLC35C1 | c.434C>G (p.Ser145Cys) c.473C>G (p.Ser158Cys) | |
11 | g.45806274C>T | CA380203052 | SLC35C1 | c.434C>T (p.Ser145Phe) c.473C>T (p.Ser158Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806275dup | CA1968693088 | SLC35C1 | c.435dup (p.Tyr146LeufsTer?) c.474dup (p.Tyr159LeufsTer?) | dbSNP |
11 | g.45806275C>A | CA474036750 | SLC35C1 | c.435C>A (p.Ser145=) c.474C>A (p.Ser158=) | gnomAD v4 |
11 | g.45806275C>G | CA474036751 | SLC35C1 | c.435C>G (p.Ser145=) c.474C>G (p.Ser158=) | |
11 | g.45806275C>T | CA474036752 | SLC35C1 | c.435C>T (p.Ser145=) c.474C>T (p.Ser158=) | |
11 | g.45806276T>A | CA380203053 | SLC35C1 | c.436T>A (p.Tyr146Asn) c.475T>A (p.Tyr159Asn) | |
11 | g.45806276T>C | CA5958247 | SLC35C1 | c.436T>C (p.Tyr146His) c.475T>C (p.Tyr159His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806276T>G | CA380203054 | SLC35C1 | c.436T>G (p.Tyr146Asp) c.475T>G (p.Tyr159Asp) | |
11 | g.45806276T= | CA1968693090 | SLC35C1 | c.436T= (p.Tyr146=) c.475T= (p.Tyr159=) | |
11 | g.45806276dup | CA2613258213 | SLC35C1 | c.436dup (p.Tyr146LeufsTer?) c.475dup (p.Tyr159LeufsTer?) | gnomAD v4 |
11 | g.45806277A= | CA1968693091 | SLC35C1 | c.437A= (p.Tyr146=) c.476A= (p.Tyr159=) | |
11 | g.45806277A>C | CA380203055 | SLC35C1 | c.437A>C (p.Tyr146Ser) c.476A>C (p.Tyr159Ser) | |
11 | g.45806277A>G | CA5958248 | SLC35C1 | c.437A>G (p.Tyr146Cys) c.476A>G (p.Tyr159Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806277A>T | CA380203056 | SLC35C1 | c.437A>T (p.Tyr146Phe) c.476A>T (p.Tyr159Phe) | |
11 | g.45806278C>A | CA380203058 | SLC35C1 | c.438C>A (p.Tyr146Ter) c.477C>A (p.Tyr159Ter) | |
11 | g.45806278C>G | CA380203057 | SLC35C1 | c.438C>G (p.Tyr146Ter) c.477C>G (p.Tyr159Ter) | |
11 | g.45806278C>T | CA474036757 | SLC35C1 | c.438C>T (p.Tyr146=) c.477C>T (p.Tyr159=) | |
11 | g.45806279C>A | CA380203059 | SLC35C1 | c.439C>A (p.Leu147Met) c.478C>A (p.Leu160Met) | |
11 | g.45806279C= | CA1968693092 | SLC35C1 | c.439C= (p.Leu147=) c.478C= (p.Leu160=) | |
11 | g.45806279C>G | CA380203060 | SLC35C1 | c.439C>G (p.Leu147Val) c.478C>G (p.Leu160Val) | ClinVar dbSNP gnomAD v4 |
11 | g.45806279C>T | CA474036760 | SLC35C1 | c.439C>T (p.Leu147=) c.478C>T (p.Leu160=) | gnomAD v4 |
11 | g.45806284_45806286dup | CA2613258214 | SLC35C1 | c.444_446dup (p.Leu149_Lys150insLeu) c.483_485dup (p.Leu162_Lys163insLeu) | gnomAD v4 |
11 | g.45806280T>A | CA380203061 | SLC35C1 | c.440T>A (p.Leu147Gln) c.479T>A (p.Leu160Gln) | |
11 | g.45806280T>C | CA380203062 | SLC35C1 | c.440T>C (p.Leu147Pro) c.479T>C (p.Leu160Pro) | |
11 | g.45806280T>G | CA380203063 | SLC35C1 | c.440T>G (p.Leu147Arg) c.479T>G (p.Leu160Arg) | |
11 | g.45806281G>A | CA474036764 | SLC35C1 | c.441G>A (p.Leu147=) c.480G>A (p.Leu160=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806281G>C | CA474036765 | SLC35C1 | c.441G>C (p.Leu147=) c.480G>C (p.Leu160=) | dbSNP gnomAD v4 |
11 | g.45806281G= | CA1968693093 | SLC35C1 | c.441G= (p.Leu147=) c.480G= (p.Leu160=) | |
11 | g.45806281G>T | CA474036766 | SLC35C1 | c.441G>T (p.Leu147=) c.480G>T (p.Leu160=) | |
11 | g.45806282C>A | CA380203064 | SLC35C1 | c.442C>A (p.Leu148Met) c.481C>A (p.Leu161Met) | |
11 | g.45806282C>G | CA380203065 | SLC35C1 | c.442C>G (p.Leu148Val) c.481C>G (p.Leu161Val) | |
11 | g.45806282C>T | CA474036767 | SLC35C1 | c.442C>T (p.Leu148=) c.481C>T (p.Leu161=) | gnomAD v4 |
11 | g.45806283T>A | CA380203066 | SLC35C1 | c.443T>A (p.Leu148Gln) c.482T>A (p.Leu161Gln) | |
11 | g.45806283T>C | CA5958249 | SLC35C1 | c.443T>C (p.Leu148Pro) c.482T>C (p.Leu161Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806283T>G | CA5958250 | SLC35C1 | c.443T>G (p.Leu148Arg) c.482T>G (p.Leu161Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806283T= | CA1968693094 | SLC35C1 | c.443T= (p.Leu148=) c.482T= (p.Leu161=) | |
11 | g.45806284G>A | CA474036768 | SLC35C1 | c.444G>A (p.Leu148=) c.483G>A (p.Leu161=) | |
11 | g.45806284G>C | CA5958251 | SLC35C1 | c.444G>C (p.Leu148=) c.483G>C (p.Leu161=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806284G= | CA1968693095 | SLC35C1 | c.444G= (p.Leu148=) c.483G= (p.Leu161=) | |
11 | g.45806284G>T | CA474036770 | SLC35C1 | c.444G>T (p.Leu148=) c.483G>T (p.Leu161=) | gnomAD v4 |
11 | g.45806285C>A | CA380203067 | SLC35C1 | c.445C>A (p.Leu149Ile) c.484C>A (p.Leu162Ile) | |
11 | g.45806285C>G | CA380203068 | SLC35C1 | c.445C>G (p.Leu149Val) c.484C>G (p.Leu162Val) | |
11 | g.45806285C>T | CA380203069 | SLC35C1 | c.445C>T (p.Leu149Phe) c.484C>T (p.Leu162Phe) | gnomAD v4 |
11 | g.45806286T>A | CA380203070 | SLC35C1 | c.446T>A (p.Leu149His) c.485T>A (p.Leu162His) | gnomAD v4 |
11 | g.45806286T>C | CA380203072 | SLC35C1 | c.446T>C (p.Leu149Pro) c.485T>C (p.Leu162Pro) | |
11 | g.45806286T>G | CA380203071 | SLC35C1 | c.446T>G (p.Leu149Arg) c.485T>G (p.Leu162Arg) | |
11 | g.45806287C>A | CA474036779 | SLC35C1 | c.447C>A (p.Leu149=) c.486C>A (p.Leu162=) | |
11 | g.45806287C>G | CA474036780 | SLC35C1 | c.447C>G (p.Leu149=) c.486C>G (p.Leu162=) | |
11 | g.45806287C>T | CA474036778 | SLC35C1 | c.447C>T (p.Leu149=) c.486C>T (p.Leu162=) | |
11 | g.45806288A>C | CA380203073 | SLC35C1 | c.448A>C (p.Lys150Gln) c.487A>C (p.Lys163Gln) | |
11 | g.45806288A>G | CA380203074 | SLC35C1 | c.448A>G (p.Lys150Glu) c.487A>G (p.Lys163Glu) | |
11 | g.45806288A>T | CA380203075 | SLC35C1 | c.448A>T (p.Lys150Ter) c.487A>T (p.Lys163Ter) | |
11 | g.45806289A>C | CA380203076 | SLC35C1 | c.449A>C (p.Lys150Thr) c.488A>C (p.Lys163Thr) | |
11 | g.45806289A>G | CA380203077 | SLC35C1 | c.449A>G (p.Lys150Arg) c.488A>G (p.Lys163Arg) | |
11 | g.45806289A>T | CA380203078 | SLC35C1 | c.449A>T (p.Lys150Met) c.488A>T (p.Lys163Met) | |
11 | g.45806290G>A | CA474036783 | SLC35C1 | c.450G>A (p.Lys150=) c.489G>A (p.Lys163=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806290G>C | CA380203079 | SLC35C1 | c.450G>C (p.Lys150Asn) c.489G>C (p.Lys163Asn) | |
11 | g.45806290G= | CA1968693096 | SLC35C1 | c.450G= (p.Lys150=) c.489G= (p.Lys163=) | |
11 | g.45806290G>T | CA380203080 | SLC35C1 | c.450G>T (p.Lys150Asn) c.489G>T (p.Lys163Asn) | |
11 | g.45806291C>A | CA380203081 | SLC35C1 | c.451C>A (p.Gln151Lys) c.490C>A (p.Gln164Lys) | gnomAD v4 |
11 | g.45806291C>G | CA380203082 | SLC35C1 | c.451C>G (p.Gln151Glu) c.490C>G (p.Gln164Glu) | |
11 | g.45806291C>T | CA380203083 | SLC35C1 | c.451C>T (p.Gln151Ter) c.490C>T (p.Gln164Ter) | |
11 | g.45806292A= | CA1968693097 | SLC35C1 | c.452A= (p.Gln151=) c.491A= (p.Gln164=) | |
11 | g.45806292A>C | CA5958252 | SLC35C1 | c.452A>C (p.Gln151Pro) c.491A>C (p.Gln164Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806292A>G | CA380203084 | SLC35C1 | c.452A>G (p.Gln151Arg) c.491A>G (p.Gln164Arg) | |
11 | g.45806292A>T | CA380203085 | SLC35C1 | c.452A>T (p.Gln151Leu) c.491A>T (p.Gln164Leu) |