| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.45806211_45806214del | CA2613258209 | SLC35C1 | c.371_374del (p.Tyr124SerfsTer?) c.410_413del (p.Tyr137SerfsTer?) | gnomAD v4 |
| 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) | |
| 11 | g.45806293G>A | CA474036787 | SLC35C1 | c.453G>A (p.Gln151=) c.492G>A (p.Gln164=) | |
| 11 | g.45806293G>C | CA380203086 | SLC35C1 | c.453G>C (p.Gln151His) c.492G>C (p.Gln164His) | |
| 11 | g.45806293G>T | CA380203087 | SLC35C1 | c.453G>T (p.Gln151His) c.492G>T (p.Gln164His) | |
| 11 | g.45806294A>C | CA380203088 | SLC35C1 | c.454A>C (p.Thr152Pro) c.493A>C (p.Thr165Pro) | |
| 11 | g.45806294A>G | CA380203089 | SLC35C1 | c.454A>G (p.Thr152Ala) c.493A>G (p.Thr165Ala) | |
| 11 | g.45806294A>T | CA380203090 | SLC35C1 | c.454A>T (p.Thr152Ser) c.493A>T (p.Thr165Ser) | |
| 11 | g.45806295C>A | CA380203091 | SLC35C1 | c.455C>A (p.Thr152Asn) c.494C>A (p.Thr165Asn) | |
| 11 | g.45806295C= | CA1968693098 | SLC35C1 | c.455C= (p.Thr152=) c.494C= (p.Thr165=) | |
| 11 | g.45806295C>G | CA380203092 | SLC35C1 | c.455C>G (p.Thr152Ser) c.494C>G (p.Thr165Ser) | |
| 11 | g.45806295C>T | CA5958253 | SLC35C1 | c.455C>T (p.Thr152Ile) c.494C>T (p.Thr165Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806296C>A | CA474036790 | SLC35C1 | c.456C>A (p.Thr152=) c.495C>A (p.Thr165=) | |
| 11 | g.45806296C= | CA1968693099 | SLC35C1 | c.456C= (p.Thr152=) c.495C= (p.Thr165=) | |
| 11 | g.45806296C>G | CA474036788 | SLC35C1 | c.456C>G (p.Thr152=) c.495C>G (p.Thr165=) | |
| 11 | g.45806296C>T | CA474036789 | SLC35C1 | c.456C>T (p.Thr152=) c.495C>T (p.Thr165=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806297A= | CA1968693101 | SLC35C1 | c.457A= (p.Thr153=) c.496A= (p.Thr166=) | |
| 11 | g.45806297A>C | CA380203093 | SLC35C1 | c.457A>C (p.Thr153Pro) c.496A>C (p.Thr166Pro) | |
| 11 | g.45806297A>G | CA5958254 | SLC35C1 | c.457A>G (p.Thr153Ala) c.496A>G (p.Thr166Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806297A>T | CA221585527 | SLC35C1 | c.457A>T (p.Thr153Ser) c.496A>T (p.Thr166Ser) | dbSNP gnomAD v4 |
| 11 | g.45806297_45806300delinsACCT | CA1968693100 | SLC35C1 | c.457_460delinsACCT (p.Thr153=) c.496_499delinsACCT (p.Thr166=) | |
| 11 | g.45806298C>A | CA380203094 | SLC35C1 | c.458C>A (p.Thr153Asn) c.497C>A (p.Thr166Asn) | |
| 11 | g.45806298C>G | CA380203095 | SLC35C1 | c.458C>G (p.Thr153Ser) c.497C>G (p.Thr166Ser) | |
| 11 | g.45806298C>T | CA380203096 | SLC35C1 | c.458C>T (p.Thr153Ile) c.497C>T (p.Thr166Ile) | |
| 11 | g.45806301_45806303del | CA599370758 | SLC35C1 | c.461_463del (p.Ser154del) c.500_502del (p.Ser167del) | dbSNP gnomAD v2 |
| 11 | g.45806299C>A | CA474036792 | SLC35C1 | c.459C>A (p.Thr153=) c.498C>A (p.Thr166=) | |
| 11 | g.45806299C= | CA1968693102 | SLC35C1 | c.459C= (p.Thr153=) c.498C= (p.Thr166=) | |
| 11 | g.45806299C>G | CA474036796 | SLC35C1 | c.459C>G (p.Thr153=) c.498C>G (p.Thr166=) | |
| 11 | g.45806299C>T | CA474036793 | SLC35C1 | c.459C>T (p.Thr153=) c.498C>T (p.Thr166=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806300T>A | CA380203099 | SLC35C1 | c.460T>A (p.Ser154Thr) c.499T>A (p.Ser167Thr) | |
| 11 | g.45806300T>C | CA380203097 | SLC35C1 | c.460T>C (p.Ser154Pro) c.499T>C (p.Ser167Pro) | gnomAD v4 |
| 11 | g.45806300T>G | CA380203098 | SLC35C1 | c.460T>G (p.Ser154Ala) c.499T>G (p.Ser167Ala) | |
| 11 | g.45806301C>A | CA380203100 | SLC35C1 | c.461C>A (p.Ser154Tyr) c.500C>A (p.Ser167Tyr) | |
| 11 | g.45806301C>G | CA380203101 | SLC35C1 | c.461C>G (p.Ser154Cys) c.500C>G (p.Ser167Cys) | |
| 11 | g.45806301C>T | CA380203102 | SLC35C1 | c.461C>T (p.Ser154Phe) c.500C>T (p.Ser167Phe) | |
| 11 | g.45806301_45806304delinsCCTT | CA1968693103 | SLC35C1 | c.461_464delinsCCTT (p.Ser154=) c.500_503delinsCCTT (p.Ser167=) | |
| 11 | g.45806302C>A | CA474036800 | SLC35C1 | c.462C>A (p.Ser154=) c.501C>A (p.Ser167=) | gnomAD v4 |
| 11 | g.45806302C= | CA1968693104 | SLC35C1 | c.462C= (p.Ser154=) c.501C= (p.Ser167=) | |
| 11 | g.45806302C>G | CA474036801 | SLC35C1 | c.462C>G (p.Ser154=) c.501C>G (p.Ser167=) | |
| 11 | g.45806302C>T | CA221585540 | SLC35C1 | c.462C>T (p.Ser154=) c.501C>T (p.Ser167=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.45806304_45806306del | CA270628 | SLC35C1 | c.464_466del (p.Phe155del) c.503_505del (p.Phe168del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806303T>A | CA380203105 | SLC35C1 | c.463T>A (p.Phe155Ile) c.502T>A (p.Phe168Ile) | |
| 11 | g.45806303T>C | CA380203103 | SLC35C1 | c.463T>C (p.Phe155Leu) c.502T>C (p.Phe168Leu) | |
| 11 | g.45806303T>G | CA380203104 | SLC35C1 | c.463T>G (p.Phe155Val) c.502T>G (p.Phe168Val) | |
| 11 | g.45806304T>A | CA380203106 | SLC35C1 | c.464T>A (p.Phe155Tyr) c.503T>A (p.Phe168Tyr) | |
| 11 | g.45806304T>C | CA380203107 | SLC35C1 | c.464T>C (p.Phe155Ser) c.503T>C (p.Phe168Ser) | dbSNP |
| 11 | g.45806304T>G | CA380203108 | SLC35C1 | c.464T>G (p.Phe155Cys) c.503T>G (p.Phe168Cys) | gnomAD v4 |
| 11 | g.45806304T= | CA1968693105 | SLC35C1 | c.464T= (p.Phe155=) c.503T= (p.Phe168=) | |
| 11 | g.45806305C>A | CA380203109 | SLC35C1 | c.465C>A (p.Phe155Leu) c.504C>A (p.Phe168Leu) | |
| 11 | g.45806305C= | CA1968693106 | SLC35C1 | c.465C= (p.Phe155=) c.504C= (p.Phe168=) | |
| 11 | g.45806305C>G | CA380203110 | SLC35C1 | c.465C>G (p.Phe155Leu) c.504C>G (p.Phe168Leu) | |
| 11 | g.45806305C>T | CA221585560 | SLC35C1 | c.465C>T (p.Phe155=) c.504C>T (p.Phe168=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806306T>A | CA380203113 | SLC35C1 | c.466T>A (p.Tyr156Asn) c.505T>A (p.Tyr169Asn) | |
| 11 | g.45806306T>C | CA380203111 | SLC35C1 | c.466T>C (p.Tyr156His) c.505T>C (p.Tyr169His) | |
| 11 | g.45806306T>G | CA380203112 | SLC35C1 | c.466T>G (p.Tyr156Asp) c.505T>G (p.Tyr169Asp) | |
| 11 | g.45806307A= | CA1968693107 | SLC35C1 | c.467A= (p.Tyr156=) c.506A= (p.Tyr169=) | |
| 11 | g.45806307A>C | CA380203114 | SLC35C1 | c.467A>C (p.Tyr156Ser) c.506A>C (p.Tyr169Ser) | |
| 11 | g.45806307A>G | CA5958255 | SLC35C1 | c.467A>G (p.Tyr156Cys) c.506A>G (p.Tyr169Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806307A>T | CA380203115 | SLC35C1 | c.467A>T (p.Tyr156Phe) c.506A>T (p.Tyr169Phe) | |
| 11 | g.45806308T>A | CA380203116 | SLC35C1 | c.468T>A (p.Tyr156Ter) c.507T>A (p.Tyr169Ter) | |
| 11 | g.45806308T>C | CA474036813 | SLC35C1 | c.468T>C (p.Tyr156=) c.507T>C (p.Tyr169=) | |
| 11 | g.45806308T>G | CA380203117 | SLC35C1 | c.468T>G (p.Tyr156Ter) c.507T>G (p.Tyr169Ter) | |
| 11 | g.45806309G>A | CA380203118 | SLC35C1 | c.469G>A (p.Ala157Thr) c.508G>A (p.Ala170Thr) | |
| 11 | g.45806309G>C | CA380203119 | SLC35C1 | c.469G>C (p.Ala157Pro) c.508G>C (p.Ala170Pro) | |
| 11 | g.45806309G>T | CA380203120 | SLC35C1 | c.469G>T (p.Ala157Ser) c.508G>T (p.Ala170Ser) | gnomAD v4 |
| 11 | g.45806310C>A | CA380203121 | SLC35C1 | c.470C>A (p.Ala157Asp) c.509C>A (p.Ala170Asp) | gnomAD v4 COSMIC |
| 11 | g.45806310C>G | CA380203122 | SLC35C1 | c.470C>G (p.Ala157Gly) c.509C>G (p.Ala170Gly) | |
| 11 | g.45806310C>T | CA380203123 | SLC35C1 | c.470C>T (p.Ala157Val) c.509C>T (p.Ala170Val) | |
| 11 | g.45806311C>A | CA474036816 | SLC35C1 | c.471C>A (p.Ala157=) c.510C>A (p.Ala170=) | |
| 11 | g.45806311C= | CA1968693108 | SLC35C1 | c.471C= (p.Ala157=) c.510C= (p.Ala170=) | |
| 11 | g.45806311C>G | CA474036818 | SLC35C1 | c.471C>G (p.Ala157=) c.510C>G (p.Ala170=) | |
| 11 | g.45806311C>T | CA474036820 | SLC35C1 | c.471C>T (p.Ala157=) c.510C>T (p.Ala170=) | dbSNP gnomAD v4 |
| 11 | g.45806312C>A | CA380203124 | SLC35C1 | c.472C>A (p.Leu158Met) c.511C>A (p.Leu171Met) | |
| 11 | g.45806312C= | CA1968693109 | SLC35C1 | c.472C= (p.Leu158=) c.511C= (p.Leu171=) | |
| 11 | g.45806312C>G | CA380203125 | SLC35C1 | c.472C>G (p.Leu158Val) c.511C>G (p.Leu171Val) | |
| 11 | g.45806312C>T | CA474036825 | SLC35C1 | c.472C>T (p.Leu158=) c.511C>T (p.Leu171=) | dbSNP gnomAD v3 gnomAD v4 |