Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.45806165G>A | CA380202819 | SLC35C1 | c.325G>A (p.Val109Met) c.364G>A (p.Val122Met) | gnomAD v4 |
11 | g.45806165G>C | CA380202820 | SLC35C1 | c.325G>C (p.Val109Leu) c.364G>C (p.Val122Leu) | |
11 | g.45806165G>T | CA380202821 | SLC35C1 | c.325G>T (p.Val109Leu) c.364G>T (p.Val122Leu) | |
11 | g.45806166T>A | CA221585329 | SLC35C1 | c.326T>A (p.Val109Glu) c.365T>A (p.Val122Glu) | dbSNP |
11 | g.45806166T>C | CA380202822 | SLC35C1 | c.326T>C (p.Val109Ala) c.365T>C (p.Val122Ala) | |
11 | g.45806166T>G | CA380202823 | SLC35C1 | c.326T>G (p.Val109Gly) c.365T>G (p.Val122Gly) | |
11 | g.45806166T= | CA1968693038 | SLC35C1 | c.326T= (p.Val109=) c.365T= (p.Val122=) | |
11 | g.45806166_45806167delinsTG | CA1968693039 | SLC35C1 | c.326_327delinsTG (p.Val109=) c.365_366delinsTG (p.Val122=) | |
11 | g.45806167G>A | CA474036633 | SLC35C1 | c.327G>A (p.Val109=) c.366G>A (p.Val122=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806167G>C | CA474036634 | SLC35C1 | c.327G>C (p.Val109=) c.366G>C (p.Val122=) | |
11 | g.45806167G= | CA1968693040 | SLC35C1 | c.327G= (p.Val109=) c.366G= (p.Val122=) | |
11 | g.45806167G>T | CA221585336 | SLC35C1 | c.327G>T (p.Val109=) c.366G>T (p.Val122=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806168del | CA916080423 | SLC35C1 | c.328del (p.Val110SerfsTer5) c.367del (p.Val123SerfsTer5) | ClinVar dbSNP gnomAD v4 |
11 | g.45806168G>A | CA380202826 | SLC35C1 | c.328G>A (p.Val110Ile) c.367G>A (p.Val123Ile) | dbSNP gnomAD v4 |
11 | g.45806168G>C | CA380202825 | SLC35C1 | c.328G>C (p.Val110Leu) c.367G>C (p.Val123Leu) | |
11 | g.45806168G= | CA1968693041 | SLC35C1 | c.328G= (p.Val110=) c.367G= (p.Val123=) | |
11 | g.45806168G>T | CA380202824 | SLC35C1 | c.328G>T (p.Val110Phe) c.367G>T (p.Val123Phe) | gnomAD v4 |
11 | g.45806169T>A | CA380202827 | SLC35C1 | c.329T>A (p.Val110Asp) c.368T>A (p.Val123Asp) | |
11 | g.45806169T>C | CA380202828 | SLC35C1 | c.329T>C (p.Val110Ala) c.368T>C (p.Val123Ala) | |
11 | g.45806169T>G | CA380202829 | SLC35C1 | c.329T>G (p.Val110Gly) c.368T>G (p.Val123Gly) | gnomAD v4 |
11 | g.45806170C>A | CA474036635 | SLC35C1 | c.330C>A (p.Val110=) c.369C>A (p.Val123=) | |
11 | g.45806170C>G | CA474036637 | SLC35C1 | c.330C>G (p.Val110=) c.369C>G (p.Val123=) | |
11 | g.45806170C>T | CA474036636 | SLC35C1 | c.330C>T (p.Val110=) c.369C>T (p.Val123=) | gnomAD v4 |
11 | g.45806171T>A | CA380202830 | SLC35C1 | c.331T>A (p.Phe111Ile) c.370T>A (p.Phe124Ile) | |
11 | g.45806171T>C | CA380202831 | SLC35C1 | c.331T>C (p.Phe111Leu) c.370T>C (p.Phe124Leu) | COSMIC |
11 | g.45806171T>G | CA380202832 | SLC35C1 | c.331T>G (p.Phe111Val) c.370T>G (p.Phe124Val) | |
11 | g.45806172T>A | CA380202833 | SLC35C1 | c.332T>A (p.Phe111Tyr) c.371T>A (p.Phe124Tyr) | gnomAD v4 |
11 | g.45806172T>C | CA380202834 | SLC35C1 | c.332T>C (p.Phe111Ser) c.371T>C (p.Phe124Ser) | gnomAD v4 |
11 | g.45806172T>G | CA380202835 | SLC35C1 | c.332T>G (p.Phe111Cys) c.371T>G (p.Phe124Cys) | |
11 | g.45806173C>A | CA380202836 | SLC35C1 | c.333C>A (p.Phe111Leu) c.372C>A (p.Phe124Leu) | |
11 | g.45806173C= | CA1968693042 | SLC35C1 | c.333C= (p.Phe111=) c.372C= (p.Phe124=) | |
11 | g.45806173C>G | CA380202837 | SLC35C1 | c.333C>G (p.Phe111Leu) c.372C>G (p.Phe124Leu) | |
11 | g.45806173C>T | CA474036638 | SLC35C1 | c.333C>T (p.Phe111=) c.372C>T (p.Phe124=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806174A= | CA1968693043 | SLC35C1 | c.334A= (p.Ile112=) c.373A= (p.Ile125=) | |
11 | g.45806174A>C | CA380202838 | SLC35C1 | c.334A>C (p.Ile112Leu) c.373A>C (p.Ile125Leu) | |
11 | g.45806174A>G | CA5958232 | SLC35C1 | c.334A>G (p.Ile112Val) c.373A>G (p.Ile125Val) | dbSNP ExAC gnomAD v4 |
11 | g.45806174A>T | CA380202839 | SLC35C1 | c.334A>T (p.Ile112Phe) c.373A>T (p.Ile125Phe) | |
11 | g.45806175T>A | CA380202841 | SLC35C1 | c.335T>A (p.Ile112Asn) c.374T>A (p.Ile125Asn) | |
11 | g.45806175T>C | CA380202842 | SLC35C1 | c.335T>C (p.Ile112Thr) c.374T>C (p.Ile125Thr) | dbSNP gnomAD v4 |
11 | g.45806175T>G | CA380202840 | SLC35C1 | c.335T>G (p.Ile112Ser) c.374T>G (p.Ile125Ser) | |
11 | g.45806175T= | CA1968693044 | SLC35C1 | c.335T= (p.Ile112=) c.374T= (p.Ile125=) | |
11 | g.45806176C>A | CA474036639 | SLC35C1 | c.336C>A (p.Ile112=) c.375C>A (p.Ile125=) | |
11 | g.45806176C= | CA1968693045 | SLC35C1 | c.336C= (p.Ile112=) c.375C= (p.Ile125=) | |
11 | g.45806176C>G | CA380202843 | SLC35C1 | c.336C>G (p.Ile112Met) c.375C>G (p.Ile125Met) | ClinVar dbSNP |
11 | g.45806176C>T | CA5958233 | SLC35C1 | c.336C>T (p.Ile112=) c.375C>T (p.Ile125=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45806177G>A | CA5958234 | SLC35C1 | c.337G>A (p.Gly113Ser) c.376G>A (p.Gly126Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806177G>C | CA380202844 | SLC35C1 | c.337G>C (p.Gly113Arg) c.376G>C (p.Gly126Arg) | |
11 | g.45806177G= | CA1968693046 | SLC35C1 | c.337G= (p.Gly113=) c.376G= (p.Gly126=) | |
11 | g.45806177G>T | CA380202845 | SLC35C1 | c.337G>T (p.Gly113Cys) c.376G>T (p.Gly126Cys) | gnomAD v4 |
11 | g.45806178G>A | CA380202846 | SLC35C1 | c.338G>A (p.Gly113Asp) c.377G>A (p.Gly126Asp) | ClinVar dbSNP |
11 | g.45806178G>C | CA380202847 | SLC35C1 | c.338G>C (p.Gly113Ala) c.377G>C (p.Gly126Ala) | |
11 | g.45806178G= | CA1968693047 | SLC35C1 | c.338G= (p.Gly113=) c.377G= (p.Gly126=) | |
11 | g.45806178G>T | CA380202848 | SLC35C1 | c.338G>T (p.Gly113Val) c.377G>T (p.Gly126Val) | gnomAD v4 |
11 | g.45806179C>A | CA474036641 | SLC35C1 | c.339C>A (p.Gly113=) c.378C>A (p.Gly126=) | |
11 | g.45806179C= | CA1968693048 | SLC35C1 | c.339C= (p.Gly113=) c.378C= (p.Gly126=) | |
11 | g.45806179C>G | CA474036640 | SLC35C1 | c.339C>G (p.Gly113=) c.378C>G (p.Gly126=) | |
11 | g.45806179C>T | CA5958235 | SLC35C1 | c.339C>T (p.Gly113=) c.378C>T (p.Gly126=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45806180A>C | CA380202849 | SLC35C1 | c.340A>C (p.Met114Leu) c.379A>C (p.Met127Leu) | |
11 | g.45806180A>G | CA380202850 | SLC35C1 | c.340A>G (p.Met114Val) c.379A>G (p.Met127Val) | gnomAD v4 |
11 | g.45806180A>T | CA380202851 | SLC35C1 | c.340A>T (p.Met114Leu) c.379A>T (p.Met127Leu) | |
11 | g.45806181T>A | CA380202853 | SLC35C1 | c.341T>A (p.Met114Lys) c.380T>A (p.Met127Lys) | |
11 | g.45806181T>C | CA221585367 | SLC35C1 | c.341T>C (p.Met114Thr) c.380T>C (p.Met127Thr) | dbSNP |
11 | g.45806181T>G | CA380202852 | SLC35C1 | c.341T>G (p.Met114Arg) c.380T>G (p.Met127Arg) | gnomAD v4 |
11 | g.45806181T= | CA1968693049 | SLC35C1 | c.341T= (p.Met114=) c.380T= (p.Met127=) | |
11 | g.45806182G>A | CA380202854 | SLC35C1 | c.342G>A (p.Met114Ile) c.381G>A (p.Met127Ile) | |
11 | g.45806182G>C | CA380202855 | SLC35C1 | c.342G>C (p.Met114Ile) c.381G>C (p.Met127Ile) | |
11 | g.45806182G>T | CA380202856 | SLC35C1 | c.342G>T (p.Met114Ile) c.381G>T (p.Met127Ile) | ClinVar |
11 | g.45806183A= | CA1968693050 | SLC35C1 | c.343A= (p.Ile115=) c.382A= (p.Ile128=) | |
11 | g.45806183A>C | CA380202857 | SLC35C1 | c.343A>C (p.Ile115Leu) c.382A>C (p.Ile128Leu) | |
11 | g.45806183A>G | CA380202858 | SLC35C1 | c.343A>G (p.Ile115Val) c.382A>G (p.Ile128Val) | dbSNP |
11 | g.45806183A>T | CA380202859 | SLC35C1 | c.343A>T (p.Ile115Phe) c.382A>T (p.Ile128Phe) | gnomAD v4 |
11 | g.45806184T>A | CA380202860 | SLC35C1 | c.344T>A (p.Ile115Asn) c.383T>A (p.Ile128Asn) | gnomAD v4 |
11 | g.45806184T>C | CA380202862 | SLC35C1 | c.344T>C (p.Ile115Thr) c.383T>C (p.Ile128Thr) | |
11 | g.45806184T>G | CA380202861 | SLC35C1 | c.344T>G (p.Ile115Ser) c.383T>G (p.Ile128Ser) | |
11 | g.45806185C>A | CA474036642 | SLC35C1 | c.345C>A (p.Ile115=) c.384C>A (p.Ile128=) | |
11 | g.45806185C>G | CA380202863 | SLC35C1 | c.345C>G (p.Ile115Met) c.384C>G (p.Ile128Met) | gnomAD v4 |
11 | g.45806185C>T | CA474036643 | SLC35C1 | c.345C>T (p.Ile115=) c.384C>T (p.Ile128=) | |
11 | g.45806186A= | CA1968693051 | SLC35C1 | c.346A= (p.Thr116=) c.385A= (p.Thr129=) | |
11 | g.45806186A>C | CA380202864 | SLC35C1 | c.346A>C (p.Thr116Pro) c.385A>C (p.Thr129Pro) | dbSNP |
11 | g.45806186A>G | CA221585384 | SLC35C1 | c.346A>G (p.Thr116Ala) c.385A>G (p.Thr129Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45806186A>T | CA380202865 | SLC35C1 | c.346A>T (p.Thr116Ser) c.385A>T (p.Thr129Ser) | |
11 | g.45806187C>A | CA380202868 | SLC35C1 | c.347C>A (p.Thr116Asn) c.386C>A (p.Thr129Asn) | |
11 | g.45806187C= | CA1968693052 | SLC35C1 | c.347C= (p.Thr116=) c.386C= (p.Thr129=) | |
11 | g.45806187C>G | CA380202866 | SLC35C1 | c.347C>G (p.Thr116Ser) c.386C>G (p.Thr129Ser) | |
11 | g.45806187C>T | CA380202867 | SLC35C1 | c.347C>T (p.Thr116Ile) c.386C>T (p.Thr129Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45806188C>A | CA474036644 | SLC35C1 | c.348C>A (p.Thr116=) c.387C>A (p.Thr129=) | |
11 | g.45806188C= | CA1968693053 | SLC35C1 | c.348C= (p.Thr116=) c.387C= (p.Thr129=) | |
11 | g.45806188C>G | CA474036645 | SLC35C1 | c.348C>G (p.Thr116=) c.387C>G (p.Thr129=) | dbSNP |
11 | g.45806188C>T | CA474036646 | SLC35C1 | c.348C>T (p.Thr116=) c.387C>T (p.Thr129=) | dbSNP gnomAD v2 |
11 | g.45806189T>A | CA380202869 | SLC35C1 | c.349T>A (p.Phe117Ile) c.388T>A (p.Phe130Ile) | |
11 | g.45806189T>C | CA380202870 | SLC35C1 | c.349T>C (p.Phe117Leu) c.388T>C (p.Phe130Leu) | |
11 | g.45806189T>G | CA380202871 | SLC35C1 | c.349T>G (p.Phe117Val) c.388T>G (p.Phe130Val) | dbSNP gnomAD v4 |
11 | g.45806189T= | CA1968693054 | SLC35C1 | c.349T= (p.Phe117=) c.388T= (p.Phe130=) | |
11 | g.45806190T>A | CA380202872 | SLC35C1 | c.350T>A (p.Phe117Tyr) c.389T>A (p.Phe130Tyr) | |
11 | g.45806190T>C | CA380202873 | SLC35C1 | c.350T>C (p.Phe117Ser) c.389T>C (p.Phe130Ser) | |
11 | g.45806190T>G | CA380202874 | SLC35C1 | c.350T>G (p.Phe117Cys) c.389T>G (p.Phe130Cys) | |
11 | g.45806191C>A | CA380202875 | SLC35C1 | c.351C>A (p.Phe117Leu) c.390C>A (p.Phe130Leu) | |
11 | g.45806191C>G | CA380202876 | SLC35C1 | c.351C>G (p.Phe117Leu) c.390C>G (p.Phe130Leu) | |
11 | g.45806191C>T | CA474036647 | SLC35C1 | c.351C>T (p.Phe117=) c.390C>T (p.Phe130=) | |
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 |