Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |