Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.45805870_45805876delinsTGCAGAGCA1968692473SLC35C1c.30_36delinsTGCAGAG (p.Ser10=)
c.69_75delinsTGCAGAG (p.Ser23=)
11g.45805879_45805884dupCA2613258198SLC35C1c.39_44dup (p.Ala15_Asn16insGluAla)
c.78_83dup (p.Ala28_Asn29insGluAla)
gnomAD v4
11g.45805879_45805884delCA221584958SLC35C1c.39_44del (p.Glu14_Ala15del)
c.78_83del (p.Glu27_Ala28del)
dbSNP
11g.45805873A>CCA474036373SLC35C1c.33A>C (p.Ala11=)
c.72A>C (p.Ala24=)
11g.45805873A>GCA474036374SLC35C1c.33A>G (p.Ala11=)
c.72A>G (p.Ala24=)
11g.45805873A>TCA474036375SLC35C1c.33A>T (p.Ala11=)
c.72A>T (p.Ala24=)
11g.45805874G>ACA380202127SLC35C1c.34G>A (p.Glu12Lys)
c.73G>A (p.Glu25Lys)
ClinVar gnomAD v4
11g.45805874G>CCA380202129SLC35C1c.34G>C (p.Glu12Gln)
c.73G>C (p.Glu25Gln)
11g.45805874G>TCA380202131SLC35C1c.34G>T (p.Glu12Ter)
c.73G>T (p.Glu25Ter)
11g.45805875A>CCA380202133SLC35C1c.35A>C (p.Glu12Ala)
c.74A>C (p.Glu25Ala)
11g.45805875A>GCA380202134SLC35C1c.35A>G (p.Glu12Gly)
c.74A>G (p.Glu25Gly)
11g.45805875A>TCA380202135SLC35C1c.35A>T (p.Glu12Val)
c.74A>T (p.Glu25Val)
11g.45805876G>ACA5958178SLC35C1c.36G>A (p.Glu12=)
c.75G>A (p.Glu25=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.45805876G>CCA380202138SLC35C1c.36G>C (p.Glu12Asp)
c.75G>C (p.Glu25Asp)
11g.45805876G=CA1968692484SLC35C1c.36G= (p.Glu12=)
c.75G= (p.Glu25=)
11g.45805876G>TCA380202140SLC35C1c.36G>T (p.Glu12Asp)
c.75G>T (p.Glu25Asp)
11g.45805877G>ACA5958179SLC35C1c.37G>A (p.Ala13Thr)
c.76G>A (p.Ala26Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45805877G>CCA380202141SLC35C1c.37G>C (p.Ala13Pro)
c.76G>C (p.Ala26Pro)
11g.45805877G=CA1968692487SLC35C1c.37G= (p.Ala13=)
c.76G= (p.Ala26=)
11g.45805877G>TCA380202143SLC35C1c.37G>T (p.Ala13Ser)
c.76G>T (p.Ala26Ser)
11g.45805878C>ACA380202146SLC35C1c.38C>A (p.Ala13Glu)
c.77C>A (p.Ala26Glu)
11g.45805878C>GCA380202148SLC35C1c.38C>G (p.Ala13Gly)
c.77C>G (p.Ala26Gly)
11g.45805878C>TCA380202145SLC35C1c.38C>T (p.Ala13Val)
c.77C>T (p.Ala26Val)
11g.45805879A=CA1968692493SLC35C1c.39A= (p.Ala13=)
c.78A= (p.Ala26=)
11g.45805879A>CCA474036381SLC35C1c.39A>C (p.Ala13=)
c.78A>C (p.Ala26=)
11g.45805879A>GCA5958180SLC35C1c.39A>G (p.Ala13=)
c.78A>G (p.Ala26=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.45805879A>TCA474036380SLC35C1c.39A>T (p.Ala13=)
c.78A>T (p.Ala26=)
11g.45805880G>ACA380202150SLC35C1c.40G>A (p.Glu14Lys)
c.79G>A (p.Glu27Lys)
11g.45805880G>CCA380202152SLC35C1c.40G>C (p.Glu14Gln)
c.79G>C (p.Glu27Gln)
11g.45805880G>TCA380202153SLC35C1c.40G>T (p.Glu14Ter)
c.79G>T (p.Glu27Ter)
11g.45805881A>CCA380202154SLC35C1c.41A>C (p.Glu14Ala)
c.80A>C (p.Glu27Ala)
11g.45805881A>GCA380202156SLC35C1c.41A>G (p.Glu14Gly)
c.80A>G (p.Glu27Gly)
11g.45805881A>TCA380202158SLC35C1c.41A>T (p.Glu14Val)
c.80A>T (p.Glu27Val)
11g.45805882G>ACA5958181SLC35C1c.42G>A (p.Glu14=)
c.81G>A (p.Glu27=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45805882G>CCA380202160SLC35C1c.42G>C (p.Glu14Asp)
c.81G>C (p.Glu27Asp)
11g.45805882G=CA1968692498SLC35C1c.42G= (p.Glu14=)
c.81G= (p.Glu27=)
11g.45805882G>TCA380202161SLC35C1c.42G>T (p.Glu14Asp)
c.81G>T (p.Glu27Asp)
11g.45805883G>ACA380202163SLC35C1c.43G>A (p.Ala15Thr)
c.82G>A (p.Ala28Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45805883G>CCA380202164SLC35C1c.43G>C (p.Ala15Pro)
c.82G>C (p.Ala28Pro)
11g.45805883G=CA1968692504SLC35C1c.43G= (p.Ala15=)
c.82G= (p.Ala28=)
11g.45805883G>TCA380202166SLC35C1c.43G>T (p.Ala15Ser)
c.82G>T (p.Ala28Ser)
11g.45805884C>ACA380202170SLC35C1c.44C>A (p.Ala15Asp)
c.83C>A (p.Ala28Asp)
11g.45805884C>GCA380202169SLC35C1c.44C>G (p.Ala15Gly)
c.83C>G (p.Ala28Gly)
11g.45805884C>TCA380202167SLC35C1c.44C>T (p.Ala15Val)
c.83C>T (p.Ala28Val)
11g.45805885C>ACA474036386SLC35C1c.45C>A (p.Ala15=)
c.84C>A (p.Ala28=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.45805885C=CA1968692509SLC35C1c.45C= (p.Ala15=)
c.84C= (p.Ala28=)
11g.45805885C>GCA474036387SLC35C1c.45C>G (p.Ala15=)
c.84C>G (p.Ala28=)
11g.45805885C>TCA474036388SLC35C1c.45C>T (p.Ala15=)
c.84C>T (p.Ala28=)
gnomAD v4
11g.45805886A=CA1968692514SLC35C1c.46A= (p.Asn16=)
c.85A= (p.Asn29=)
11g.45805886A>CCA380202172SLC35C1c.46A>C (p.Asn16His)
c.85A>C (p.Asn29His)
ClinVar dbSNP gnomAD v4
11g.45805886A>GCA380202173SLC35C1c.46A>G (p.Asn16Asp)
c.85A>G (p.Asn29Asp)
dbSNP gnomAD v2 gnomAD v4
11g.45805886A>TCA380202175SLC35C1c.46A>T (p.Asn16Tyr)
c.85A>T (p.Asn29Tyr)
11g.45805887A>CCA380202176SLC35C1c.47A>C (p.Asn16Thr)
c.86A>C (p.Asn29Thr)
11g.45805887A>GCA380202178SLC35C1c.47A>G (p.Asn16Ser)
c.86A>G (p.Asn29Ser)
gnomAD v4
11g.45805887A>TCA380202180SLC35C1c.47A>T (p.Asn16Ile)
c.86A>T (p.Asn29Ile)
11g.45805888C>ACA380202182SLC35C1c.48C>A (p.Asn16Lys)
c.87C>A (p.Asn29Lys)
11g.45805888C=CA1968692523SLC35C1c.48C= (p.Asn16=)
c.87C= (p.Asn29=)
11g.45805888C>GCA380202183SLC35C1c.48C>G (p.Asn16Lys)
c.87C>G (p.Asn29Lys)
11g.45805888C>TCA474036392SLC35C1c.48C>T (p.Asn16=)
c.87C>T (p.Asn29=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.45805889G>ACA5958182SLC35C1c.49G>A (p.Gly17Arg)
c.88G>A (p.Gly30Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45805889G>CCA5958183SLC35C1c.49G>C (p.Gly17Arg)
c.88G>C (p.Gly30Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45805889G=CA1968692532SLC35C1c.49G= (p.Gly17=)
c.88G= (p.Gly30=)
11g.45805889G>TCA380202186SLC35C1c.49G>T (p.Gly17Trp)
c.88G>T (p.Gly30Trp)
11g.45805890G>ACA380202188SLC35C1c.50G>A (p.Gly17Glu)
c.89G>A (p.Gly30Glu)
11g.45805890G>CCA380202189SLC35C1c.50G>C (p.Gly17Ala)
c.89G>C (p.Gly30Ala)
gnomAD v4
11g.45805890G>TCA380202190SLC35C1c.50G>T (p.Gly17Val)
c.89G>T (p.Gly30Val)
11g.45805891G>ACA5958184SLC35C1c.51G>A (p.Gly17=)
c.90G>A (p.Gly30=)
dbSNP ExAC
11g.45805891G>CCA474036398SLC35C1c.51G>C (p.Gly17=)
c.90G>C (p.Gly30=)
dbSNP gnomAD v4
11g.45805891G=CA1968692541SLC35C1c.51G= (p.Gly17=)
c.90G= (p.Gly30=)
11g.45805891G>TCA474036399SLC35C1c.51G>T (p.Gly17=)
c.90G>T (p.Gly30=)
11g.45805892G>ACA380202193SLC35C1c.52G>A (p.Glu18Lys)
c.91G>A (p.Glu31Lys)
dbSNP gnomAD v3 gnomAD v4
11g.45805892G>CCA380202194SLC35C1c.52G>C (p.Glu18Gln)
c.91G>C (p.Glu31Gln)
11g.45805892G=CA1968692551SLC35C1c.52G= (p.Glu18=)
c.91G= (p.Glu31=)
11g.45805892G>TCA223533SLC35C1c.52G>T (p.Glu18Ter)
c.91G>T (p.Glu31Ter)
ClinVar dbSNP gnomAD v4
11g.45805893A>CCA380202196SLC35C1c.53A>C (p.Glu18Ala)
c.92A>C (p.Glu31Ala)
11g.45805893A>GCA380202197SLC35C1c.53A>G (p.Glu18Gly)
c.92A>G (p.Glu31Gly)
11g.45805893A>TCA380202199SLC35C1c.53A>T (p.Glu18Val)
c.92A>T (p.Glu31Val)
11g.45805894G>ACA474036401SLC35C1c.54G>A (p.Glu18=)
c.93G>A (p.Glu31=)
gnomAD v4
11g.45805894G>CCA380202201SLC35C1c.54G>C (p.Glu18Asp)
c.93G>C (p.Glu31Asp)
11g.45805894G>TCA380202202SLC35C1c.54G>T (p.Glu18Asp)
c.93G>T (p.Glu31Asp)
11g.45805895A>CCA380202204SLC35C1c.55A>C (p.Lys19Gln)
c.94A>C (p.Lys32Gln)
11g.45805895A>GCA380202206SLC35C1c.55A>G (p.Lys19Glu)
c.94A>G (p.Lys32Glu)
11g.45805895A>TCA380202208SLC35C1c.55A>T (p.Lys19Ter)
c.94A>T (p.Lys32Ter)
11g.45805896A>CCA380202209SLC35C1c.56A>C (p.Lys19Thr)
c.95A>C (p.Lys32Thr)
11g.45805896A>GCA380202210SLC35C1c.56A>G (p.Lys19Arg)
c.95A>G (p.Lys32Arg)
11g.45805896A>TCA380202212SLC35C1c.56A>T (p.Lys19Met)
c.95A>T (p.Lys32Met)
11g.45805897G>ACA474036404SLC35C1c.57G>A (p.Lys19=)
c.96G>A (p.Lys32=)
11g.45805897G>CCA380202214SLC35C1c.57G>C (p.Lys19Asn)
c.96G>C (p.Lys32Asn)
11g.45805897G>TCA380202215SLC35C1c.57G>T (p.Lys19Asn)
c.96G>T (p.Lys32Asn)
11g.45805898C>ACA380202220SLC35C1c.58C>A (p.Pro20Thr)
c.97C>A (p.Pro33Thr)
11g.45805898C=CA1968692558SLC35C1c.58C= (p.Pro20=)
c.97C= (p.Pro33=)
11g.45805898C>GCA380202217SLC35C1c.58C>G (p.Pro20Ala)
c.97C>G (p.Pro33Ala)
11g.45805898C>TCA380202218SLC35C1c.58C>T (p.Pro20Ser)
c.97C>T (p.Pro33Ser)
dbSNP gnomAD v2 gnomAD v4
11g.45805900delCA2574805525SLC35C1c.60del (p.Leu22CysfsTer?)
c.99del (p.Leu35CysfsTer?)
11g.45805899C>ACA380202222SLC35C1c.59C>A (p.Pro20His)
c.98C>A (p.Pro33His)
11g.45805899C=CA1968692564SLC35C1c.59C= (p.Pro20=)
c.98C= (p.Pro33=)
11g.45805899C>GCA380202224SLC35C1c.59C>G (p.Pro20Arg)
c.98C>G (p.Pro33Arg)
dbSNP gnomAD v2 gnomAD v4
11g.45805899C>TCA380202225SLC35C1c.59C>T (p.Pro20Leu)
c.98C>T (p.Pro33Leu)
11g.45805900C>ACA474036407SLC35C1c.60C>A (p.Pro20=)
c.99C>A (p.Pro33=)
11g.45805900C>GCA474036408SLC35C1c.60C>G (p.Pro20=)
c.99C>G (p.Pro33=)
11g.45805900C>TCA474036410SLC35C1c.60C>T (p.Pro20=)
c.99C>T (p.Pro33=)
gnomAD v4
11g.45805901T>ACA380202227SLC35C1c.61T>A (p.Phe21Ile)
c.100T>A (p.Phe34Ile)
11g.45805901T>CCA380202228SLC35C1c.61T>C (p.Phe21Leu)
c.100T>C (p.Phe34Leu)
11g.45805901T>GCA380202229SLC35C1c.61T>G (p.Phe21Val)
c.100T>G (p.Phe34Val)
11g.45805902T>ACA380202231SLC35C1c.62T>A (p.Phe21Tyr)
c.101T>A (p.Phe34Tyr)
11g.45805902T>CCA380202232SLC35C1c.62T>C (p.Phe21Ser)
c.101T>C (p.Phe34Ser)
gnomAD v4
11g.45805902T>GCA380202234SLC35C1c.62T>G (p.Phe21Cys)
c.101T>G (p.Phe34Cys)
11g.45805903T>ACA380202235SLC35C1c.63T>A (p.Phe21Leu)
c.102T>A (p.Phe34Leu)
11g.45805903T>CCA221584982SLC35C1c.63T>C (p.Phe21=)
c.102T>C (p.Phe34=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45805903T>GCA380202237SLC35C1c.63T>G (p.Phe21Leu)
c.102T>G (p.Phe34Leu)
11g.45805903T=CA1968692573SLC35C1c.63T= (p.Phe21=)
c.102T= (p.Phe34=)
11g.45805904C>ACA380202239SLC35C1c.64C>A (p.Leu22Met)
c.103C>A (p.Leu35Met)
11g.45805904C=CA1968692586SLC35C1c.64C= (p.Leu22=)
c.103C= (p.Leu35=)
11g.45805904C>GCA380202240SLC35C1c.64C>G (p.Leu22Val)
c.103C>G (p.Leu35Val)
11g.45805904C>TCA221584991SLC35C1c.64C>T (p.Leu22=)
c.103C>T (p.Leu35=)
dbSNP gnomAD v4
11g.45805905T>ACA380202242SLC35C1c.65T>A (p.Leu22Gln)
c.104T>A (p.Leu35Gln)
11g.45805905T>CCA380202243SLC35C1c.65T>C (p.Leu22Pro)
c.104T>C (p.Leu35Pro)
dbSNP gnomAD v2 gnomAD v4
11g.45805905T>GCA380202244SLC35C1c.65T>G (p.Leu22Arg)
c.104T>G (p.Leu35Arg)
11g.45805905T=CA1968692591SLC35C1c.65T= (p.Leu22=)
c.104T= (p.Leu35=)
11g.45805906G>ACA474036413SLC35C1c.66G>A (p.Leu22=)
c.105G>A (p.Leu35=)
11g.45805906G>CCA474036414SLC35C1c.66G>C (p.Leu22=)
c.105G>C (p.Leu35=)
11g.45805906G>TCA474036416SLC35C1c.66G>T (p.Leu22=)
c.105G>T (p.Leu35=)
11g.45805907C>ACA380202246SLC35C1c.67C>A (p.Leu23Met)
c.106C>A (p.Leu36Met)
11g.45805907C=CA1968692596SLC35C1c.67C= (p.Leu23=)
c.106C= (p.Leu36=)
11g.45805907C>GCA380202247SLC35C1c.67C>G (p.Leu23Val)
c.106C>G (p.Leu36Val)
11g.45805907C>TCA474036417SLC35C1c.67C>T (p.Leu23=)
c.106C>T (p.Leu36=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.45805908T>ACA380202251SLC35C1c.68T>A (p.Leu23Gln)
c.107T>A (p.Leu36Gln)
11g.45805908T>CCA380202249SLC35C1c.68T>C (p.Leu23Pro)
c.107T>C (p.Leu36Pro)
gnomAD v4
11g.45805908T>GCA380202248SLC35C1c.68T>G (p.Leu23Arg)
c.107T>G (p.Leu36Arg)
gnomAD v4
11g.45805909G>ACA5958185SLC35C1c.69G>A (p.Leu23=)
c.108G>A (p.Leu36=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.45805909G>CCA474036420SLC35C1c.69G>C (p.Leu23=)
c.108G>C (p.Leu36=)
11g.45805909G=CA1968692604SLC35C1c.69G= (p.Leu23=)
c.108G= (p.Leu36=)
11g.45805909G>TCA474036421SLC35C1c.69G>T (p.Leu23=)
c.108G>T (p.Leu36=)
dbSNP gnomAD v3 gnomAD v4
11g.45805910C>ACA474036423SLC35C1c.70C>A (p.Arg24=)
c.109C>A (p.Arg37=)
gnomAD v4
11g.45805910C=CA1968692609SLC35C1c.70C= (p.Arg24=)
c.109C= (p.Arg37=)
11g.45805910C>GCA380202253SLC35C1c.70C>G (p.Arg24Gly)
c.109C>G (p.Arg37Gly)
dbSNP gnomAD v4
11g.45805910C>TCA380202255SLC35C1c.70C>T (p.Arg24Trp)
c.109C>T (p.Arg37Trp)
dbSNP gnomAD v2
11g.45805911G>ACA5958186SLC35C1c.71G>A (p.Arg24Gln)
c.110G>A (p.Arg37Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45805911G>CCA380202258SLC35C1c.71G>C (p.Arg24Pro)
c.110G>C (p.Arg37Pro)
11g.45805911G=CA1968692614SLC35C1c.71G= (p.Arg24=)
c.110G= (p.Arg37=)
11g.45805911G>TCA380202260SLC35C1c.71G>T (p.Arg24Leu)
c.110G>T (p.Arg37Leu)
11g.45805912G>ACA474036424SLC35C1c.72G>A (p.Arg24=)
c.111G>A (p.Arg37=)
11g.45805912G>CCA474036426SLC35C1c.72G>C (p.Arg24=)
c.111G>C (p.Arg37=)
11g.45805912G>TCA474036425SLC35C1c.72G>T (p.Arg24=)
c.111G>T (p.Arg37=)
11g.45805913G>ACA380202267SLC35C1c.73G>A (p.Ala25Thr)
c.112G>A (p.Ala38Thr)
11g.45805913G>CCA380202263SLC35C1c.73G>C (p.Ala25Pro)
c.112G>C (p.Ala38Pro)
11g.45805913G=CA1968692620SLC35C1c.73G= (p.Ala25=)
c.112G= (p.Ala38=)
11g.45805913G>TCA380202265SLC35C1c.73G>T (p.Ala25Ser)
c.112G>T (p.Ala38Ser)
dbSNP
11g.45805914C>ACA380202270SLC35C1c.74C>A (p.Ala25Glu)
c.113C>A (p.Ala38Glu)
gnomAD v4
11g.45805914C>GCA380202272SLC35C1c.74C>G (p.Ala25Gly)
c.113C>G (p.Ala38Gly)
11g.45805914C>TCA380202274SLC35C1c.74C>T (p.Ala25Val)
c.113C>T (p.Ala38Val)
11g.45805915A>CCA474036430SLC35C1c.75A>C (p.Ala25=)
c.114A>C (p.Ala38=)
11g.45805915A>GCA474036431SLC35C1c.75A>G (p.Ala25=)
c.114A>G (p.Ala38=)
11g.45805915A>TCA474036432SLC35C1c.75A>T (p.Ala25=)
c.114A>T (p.Ala38=)
11g.45805916T>ACA380202275SLC35C1c.76T>A (p.Leu26Met)
c.115T>A (p.Leu39Met)
11g.45805916T>CCA474036433SLC35C1c.76T>C (p.Leu26=)
c.115T>C (p.Leu39=)
gnomAD v4
11g.45805916T>GCA380202276SLC35C1c.76T>G (p.Leu26Val)
c.115T>G (p.Leu39Val)
11g.45805917T>ACA380202278SLC35C1c.77T>A (p.Leu26Ter)
c.116T>A (p.Leu39Ter)
11g.45805917T>CCA5958187SLC35C1c.77T>C (p.Leu26Ser)
c.116T>C (p.Leu39Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45805917T>GCA380202280SLC35C1c.77T>G (p.Leu26Trp)
c.116T>G (p.Leu39Trp)
11g.45805917T=CA1968692627SLC35C1c.77T= (p.Leu26=)
c.116T= (p.Leu39=)
11g.45805918G>ACA474036434SLC35C1c.78G>A (p.Leu26=)
c.117G>A (p.Leu39=)
gnomAD v4
11g.45805918G>CCA380202282SLC35C1c.78G>C (p.Leu26Phe)
c.117G>C (p.Leu39Phe)
11g.45805918G>TCA380202283SLC35C1c.78G>T (p.Leu26Phe)
c.117G>T (p.Leu39Phe)
COSMIC
11g.45805919C>ACA380202285SLC35C1c.79C>A (p.Gln27Lys)
c.118C>A (p.Gln40Lys)
11g.45805919C>GCA380202293SLC35C1c.79C>G (p.Gln27Glu)
c.118C>G (p.Gln40Glu)
11g.45805919C>TCA380202294SLC35C1c.79C>T (p.Gln27Ter)
c.118C>T (p.Gln40Ter)
11g.45805920A>CCA380202295SLC35C1c.80A>C (p.Gln27Pro)
c.119A>C (p.Gln40Pro)
11g.45805920A>GCA380202298SLC35C1c.80A>G (p.Gln27Arg)
c.119A>G (p.Gln40Arg)
dbSNP
11g.45805920A>TCA380202297SLC35C1c.80A>T (p.Gln27Leu)
c.119A>T (p.Gln40Leu)
11g.45805921G>ACA474036436SLC35C1c.81G>A (p.Gln27=)
c.120G>A (p.Gln40=)
11g.45805921G>CCA380202300SLC35C1c.81G>C (p.Gln27His)
c.120G>C (p.Gln40His)
ClinVar dbSNP gnomAD v4
11g.45805921G=CA1968692640SLC35C1c.81G= (p.Gln27=)
c.120G= (p.Gln40=)
11g.45805921G>TCA380202302SLC35C1c.81G>T (p.Gln27His)
c.120G>T (p.Gln40His)
ClinVar dbSNP gnomAD v4
11g.45805922A=CA1968692649SLC35C1c.82A= (p.Ile28=)
c.121A= (p.Ile41=)
11g.45805922A>CCA380202303SLC35C1c.82A>C (p.Ile28Leu)
c.121A>C (p.Ile41Leu)
11g.45805922A>GCA380202304SLC35C1c.82A>G (p.Ile28Val)
c.121A>G (p.Ile41Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45805922A>TCA380202306SLC35C1c.82A>T (p.Ile28Phe)
c.121A>T (p.Ile41Phe)
11g.45805923T>ACA380202308SLC35C1c.83T>A (p.Ile28Asn)
c.122T>A (p.Ile41Asn)
11g.45805923T>CCA380202309SLC35C1c.83T>C (p.Ile28Thr)
c.122T>C (p.Ile41Thr)
11g.45805923T>GCA380202311SLC35C1c.83T>G (p.Ile28Ser)
c.122T>G (p.Ile41Ser)
11g.45805924C>ACA474036438SLC35C1c.84C>A (p.Ile28=)
c.123C>A (p.Ile41=)
gnomAD v4
11g.45805924C=CA1968692654SLC35C1c.84C= (p.Ile28=)
c.123C= (p.Ile41=)
11g.45805924C>GCA380202312SLC35C1c.84C>G (p.Ile28Met)
c.123C>G (p.Ile41Met)
11g.45805924C>TCA474036439SLC35C1c.84C>T (p.Ile28=)
c.123C>T (p.Ile41=)
ClinVar dbSNP gnomAD v4
11g.45805925G>ACA380202314SLC35C1c.85G>A (p.Ala29Thr)
c.124G>A (p.Ala42Thr)
dbSNP gnomAD v4
11g.45805925G>CCA380202316SLC35C1c.85G>C (p.Ala29Pro)
c.124G>C (p.Ala42Pro)
11g.45805925G=CA1968692658SLC35C1c.85G= (p.Ala29=)
c.124G= (p.Ala42=)
11g.45805925G>TCA380202318SLC35C1c.85G>T (p.Ala29Ser)
c.124G>T (p.Ala42Ser)
dbSNP
11g.45805926C>ACA221585007SLC35C1c.86C>A (p.Ala29Glu)
c.125C>A (p.Ala42Glu)
dbSNP gnomAD v3 gnomAD v4
11g.45805926C=CA1968692662SLC35C1c.86C= (p.Ala29=)
c.125C= (p.Ala42=)
11g.45805926C>GCA380202320SLC35C1c.86C>G (p.Ala29Gly)
c.125C>G (p.Ala42Gly)
11g.45805926C>TCA5958188SLC35C1c.86C>T (p.Ala29Val)
c.125C>T (p.Ala42Val)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45805927G>ACA474036441SLC35C1c.87G>A (p.Ala29=)
c.126G>A (p.Ala42=)
COSMIC
11g.45805927G>CCA5958189SLC35C1c.87G>C (p.Ala29=)
c.126G>C (p.Ala42=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45805927G=CA1968692667SLC35C1c.87G= (p.Ala29=)
c.126G= (p.Ala42=)
11g.45805927G>TCA474036442SLC35C1c.87G>T (p.Ala29=)
c.126G>T (p.Ala42=)
gnomAD v4
11g.45805928C>ACA380202323SLC35C1c.88C>A (p.Leu30Met)
c.127C>A (p.Leu43Met)
11g.45805928C>GCA380202325SLC35C1c.88C>G (p.Leu30Val)
c.127C>G (p.Leu43Val)
11g.45805928C>TCA474036444SLC35C1c.88C>T (p.Leu30=)
c.127C>T (p.Leu43=)
gnomAD v4
11g.45805929T>ACA380202326SLC35C1c.89T>A (p.Leu30Gln)
c.128T>A (p.Leu43Gln)
dbSNP
11g.45805929T>CCA380202328SLC35C1c.89T>C (p.Leu30Pro)
c.128T>C (p.Leu43Pro)
11g.45805929T>GCA380202329SLC35C1c.89T>G (p.Leu30Arg)
c.128T>G (p.Leu43Arg)
gnomAD v4
11g.45805929T=CA1968692671SLC35C1c.89T= (p.Leu30=)
c.128T= (p.Leu43=)
11g.45805930G>ACA474036447SLC35C1c.90G>A (p.Leu30=)
c.129G>A (p.Leu43=)
11g.45805930G>CCA474036448SLC35C1c.90G>C (p.Leu30=)
c.129G>C (p.Leu43=)
11g.45805930G>TCA474036449SLC35C1c.90G>T (p.Leu30=)
c.129G>T (p.Leu43=)
11g.45805931G>ACA5958190SLC35C1c.91G>A (p.Val31Met)
c.130G>A (p.Val44Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45805931G>CCA380202331SLC35C1c.91G>C (p.Val31Leu)
c.130G>C (p.Val44Leu)
11g.45805931G=CA1968692677SLC35C1c.91G= (p.Val31=)
c.130G= (p.Val44=)
11g.45805931G>TCA380202333SLC35C1c.91G>T (p.Val31Leu)
c.130G>T (p.Val44Leu)
11g.45805932T>ACA380202335SLC35C1c.92T>A (p.Val31Glu)
c.131T>A (p.Val44Glu)
11g.45805932T>CCA380202336SLC35C1c.92T>C (p.Val31Ala)
c.131T>C (p.Val44Ala)
11g.45805932T>GCA380202337SLC35C1c.92T>G (p.Val31Gly)
c.131T>G (p.Val44Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45805932T=CA1968692687SLC35C1c.92T= (p.Val31=)
c.131T= (p.Val44=)
11g.45805933G>ACA474036453SLC35C1c.93G>A (p.Val31=)
c.132G>A (p.Val44=)
11g.45805933G>CCA474036454SLC35C1c.93G>C (p.Val31=)
c.132G>C (p.Val44=)
dbSNP
11g.45805933G=CA1968692693SLC35C1c.93G= (p.Val31=)
c.132G= (p.Val44=)
11g.45805933G>TCA474036455SLC35C1c.93G>T (p.Val31=)
c.132G>T (p.Val44=)
11g.45805934delCA2613258199SLC35C1c.94del (p.Val32SerfsTer?)
c.133del (p.Val45SerfsTer?)
gnomAD v4
11g.45805934G>ACA380202339SLC35C1c.94G>A (p.Val32Ile)
c.133G>A (p.Val45Ile)
dbSNP gnomAD v2 gnomAD v4
11g.45805934G>CCA380202341SLC35C1c.94G>C (p.Val32Leu)
c.133G>C (p.Val45Leu)
11g.45805934G=CA1968692697SLC35C1c.94G= (p.Val32=)
c.133G= (p.Val45=)
11g.45805934G>TCA380202340SLC35C1c.94G>T (p.Val32Phe)
c.133G>T (p.Val45Phe)
11g.45805935T>ACA380202342SLC35C1c.95T>A (p.Val32Asp)
c.134T>A (p.Val45Asp)
11g.45805935T>CCA380202345SLC35C1c.95T>C (p.Val32Ala)
c.134T>C (p.Val45Ala)
11g.45805935T>GCA380202343SLC35C1c.95T>G (p.Val32Gly)
c.134T>G (p.Val45Gly)
11g.45805936C>ACA474036458SLC35C1c.96C>A (p.Val32=)
c.135C>A (p.Val45=)
11g.45805936C=CA1968692699SLC35C1c.96C= (p.Val32=)
c.135C= (p.Val45=)
11g.45805936C>GCA474036457SLC35C1c.96C>G (p.Val32=)
c.135C>G (p.Val45=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45805936C>TCA474036456SLC35C1c.96C>T (p.Val32=)
c.135C>T (p.Val45=)
11g.45805937T>ACA380202346SLC35C1c.97T>A (p.Ser33Thr)
c.136T>A (p.Ser46Thr)
11g.45805937T>CCA380202349SLC35C1c.97T>C (p.Ser33Pro)
c.136T>C (p.Ser46Pro)
11g.45805937T>GCA380202348SLC35C1c.97T>G (p.Ser33Ala)
c.136T>G (p.Ser46Ala)
11g.45805938C>ACA380202351SLC35C1c.98C>A (p.Ser33Tyr)
c.137C>A (p.Ser46Tyr)
11g.45805938C>GCA380202354SLC35C1c.98C>G (p.Ser33Cys)
c.137C>G (p.Ser46Cys)
11g.45805938C>TCA380202353SLC35C1c.98C>T (p.Ser33Phe)
c.137C>T (p.Ser46Phe)
11g.45805939C>ACA474036459SLC35C1c.99C>A (p.Ser33=)
c.138C>A (p.Ser46=)
11g.45805939C>GCA474036460SLC35C1c.99C>G (p.Ser33=)
c.138C>G (p.Ser46=)
11g.45805939C>TCA474036461SLC35C1c.99C>T (p.Ser33=)
c.138C>T (p.Ser46=)
gnomAD v4
11g.45805940C>ACA380202356SLC35C1c.100C>A (p.Leu34Ile)
c.139C>A (p.Leu47Ile)
11g.45805940C=CA1968692700SLC35C1c.100C= (p.Leu34=)
c.139C= (p.Leu47=)
11g.45805940C>GCA380202358SLC35C1c.100C>G (p.Leu34Val)
c.139C>G (p.Leu47Val)
11g.45805940C>TCA5958191SLC35C1c.100C>T (p.Leu34Phe)
c.139C>T (p.Leu47Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45805941T>ACA380202360SLC35C1c.101T>A (p.Leu34His)
c.140T>A (p.Leu47His)
11g.45805941T>CCA380202362SLC35C1c.101T>C (p.Leu34Pro)
c.140T>C (p.Leu47Pro)
11g.45805941T>GCA380202361SLC35C1c.101T>G (p.Leu34Arg)
c.140T>G (p.Leu47Arg)
11g.45805942C>ACA474036463SLC35C1c.102C>A (p.Leu34=)
c.141C>A (p.Leu47=)
11g.45805942C>GCA474036464SLC35C1c.102C>G (p.Leu34=)
c.141C>G (p.Leu47=)
11g.45805942C>TCA474036465SLC35C1c.102C>T (p.Leu34=)
c.141C>T (p.Leu47=)
gnomAD v4
11g.45805943T>ACA380202363SLC35C1c.103T>A (p.Tyr35Asn)
c.142T>A (p.Tyr48Asn)
11g.45805943T>CCA380202364SLC35C1c.103T>C (p.Tyr35His)
c.142T>C (p.Tyr48His)
11g.45805943T>GCA380202365SLC35C1c.103T>G (p.Tyr35Asp)
c.142T>G (p.Tyr48Asp)
11g.45805944A=CA1968692704SLC35C1c.104A= (p.Tyr35=)
c.143A= (p.Tyr48=)
11g.45805944A>CCA380202366SLC35C1c.104A>C (p.Tyr35Ser)
c.143A>C (p.Tyr48Ser)
11g.45805944A>GCA380202367SLC35C1c.104A>G (p.Tyr35Cys)
c.143A>G (p.Tyr48Cys)
dbSNP
11g.45805944A>TCA380202368SLC35C1c.104A>T (p.Tyr35Phe)
c.143A>T (p.Tyr48Phe)
11g.45805945C>ACA380202369SLC35C1c.105C>A (p.Tyr35Ter)
c.144C>A (p.Tyr48Ter)
11g.45805945C>GCA380202370SLC35C1c.105C>G (p.Tyr35Ter)
c.144C>G (p.Tyr48Ter)
11g.45805945C>TCA474036467SLC35C1c.105C>T (p.Tyr35=)
c.144C>T (p.Tyr48=)
11g.45805946T>ACA5958192SLC35C1c.106T>A (p.Trp36Arg)
c.145T>A (p.Trp49Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45805946T>CCA380202371SLC35C1c.106T>C (p.Trp36Arg)
c.145T>C (p.Trp49Arg)
11g.45805946T>GCA380202372SLC35C1c.106T>G (p.Trp36Gly)
c.145T>G (p.Trp49Gly)
11g.45805946T=CA1968692708SLC35C1c.106T= (p.Trp36=)
c.145T= (p.Trp49=)
11g.45805947G>ACA380202373SLC35C1c.107G>A (p.Trp36Ter)
c.146G>A (p.Trp49Ter)
11g.45805947G>CCA221585035SLC35C1c.107G>C (p.Trp36Ser)
c.146G>C (p.Trp49Ser)
dbSNP
11g.45805947G=CA1968692713SLC35C1c.107G= (p.Trp36=)
c.146G= (p.Trp49=)
11g.45805947G>TCA380202374SLC35C1c.107G>T (p.Trp36Leu)
c.146G>T (p.Trp49Leu)
11g.45805948G>ACA380202375SLC35C1c.108G>A (p.Trp36Ter)
c.147G>A (p.Trp49Ter)
11g.45805948G>CCA380202376SLC35C1c.108G>C (p.Trp36Cys)
c.147G>C (p.Trp49Cys)
gnomAD v4
11g.45805948G>TCA380202377SLC35C1c.108G>T (p.Trp36Cys)
c.147G>T (p.Trp49Cys)
11g.45805949G>ACA380202378SLC35C1c.109G>A (p.Val37Ile)
c.148G>A (p.Val50Ile)
11g.45805949G>CCA380202379SLC35C1c.109G>C (p.Val37Leu)
c.148G>C (p.Val50Leu)
dbSNP gnomAD v3 gnomAD v4
11g.45805949G=CA1968692714SLC35C1c.109G= (p.Val37=)
c.148G= (p.Val50=)
11g.45805949G>TCA380202380SLC35C1c.109G>T (p.Val37Phe)
c.148G>T (p.Val50Phe)
11g.45805949_45805950insAGGACA2613258200SLC35C1c.109_110insAGGA (p.Val37GlufsTer11)
c.148_149insAGGA (p.Val50GlufsTer11)
gnomAD v4
11g.45805949_45805950insAGGATCA676889125SLC35C1c.109_110insAGGAT (p.Val37GlufsTer?)
c.148_149insAGGAT (p.Val50GlufsTer?)
dbSNP
11g.45805950T>ACA380202381SLC35C1c.110T>A (p.Val37Asp)
c.149T>A (p.Val50Asp)
11g.45805950T>CCA380202382SLC35C1c.110T>C (p.Val37Ala)
c.149T>C (p.Val50Ala)
11g.45805950T>GCA380202383SLC35C1c.110T>G (p.Val37Gly)
c.149T>G (p.Val50Gly)
11g.45805951C>ACA474036481SLC35C1c.111C>A (p.Val37=)
c.150C>A (p.Val50=)
dbSNP
11g.45805951C=CA1968692716SLC35C1c.111C= (p.Val37=)
c.150C= (p.Val50=)
11g.45805951C>GCA474036482SLC35C1c.111C>G (p.Val37=)
c.150C>G (p.Val50=)
11g.45805951C>TCA474036486SLC35C1c.111C>T (p.Val37=)
c.150C>T (p.Val50=)
ClinVar dbSNP gnomAD v4
11g.45805951_45805954delCA2613258201SLC35C1c.111_114del (p.Thr38ProfsTer?)
c.150_153del (p.Thr51ProfsTer?)
gnomAD v4
11g.45805952A=CA1968692720SLC35C1c.112A= (p.Thr38=)
c.151A= (p.Thr51=)
11g.45805952A>CCA380202385SLC35C1c.112A>C (p.Thr38Pro)
c.151A>C (p.Thr51Pro)
dbSNP
11g.45805952A>GCA5958193SLC35C1c.112A>G (p.Thr38Ala)
c.151A>G (p.Thr51Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45805952A>TCA380202384SLC35C1c.112A>T (p.Thr38Ser)
c.151A>T (p.Thr51Ser)
11g.45805953C>ACA380202386SLC35C1c.113C>A (p.Thr38Asn)
c.152C>A (p.Thr51Asn)
11g.45805953C=CA1968692726SLC35C1c.113C= (p.Thr38=)
c.152C= (p.Thr51=)
11g.45805953C>GCA380202387SLC35C1c.113C>G (p.Thr38Ser)
c.152C>G (p.Thr51Ser)
dbSNP gnomAD v4
11g.45805953C>TCA221585044SLC35C1c.113C>T (p.Thr38Ile)
c.152C>T (p.Thr51Ile)
dbSNP
11g.45805954C>ACA474036487SLC35C1c.114C>A (p.Thr38=)
c.153C>A (p.Thr51=)
11g.45805954C=CA1968692729SLC35C1c.114C= (p.Thr38=)
c.153C= (p.Thr51=)
11g.45805954C>GCA5958194SLC35C1c.114C>G (p.Thr38=)
c.153C>G (p.Thr51=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45805954C>TCA474036489SLC35C1c.114C>T (p.Thr38=)
c.153C>T (p.Thr51=)
gnomAD v4
11g.45805955T>ACA380202390SLC35C1c.115T>A (p.Ser39Thr)
c.154T>A (p.Ser52Thr)
dbSNP
11g.45805955T>CCA380202389SLC35C1c.115T>C (p.Ser39Pro)
c.154T>C (p.Ser52Pro)
gnomAD v4
11g.45805955T>GCA380202388SLC35C1c.115T>G (p.Ser39Ala)
c.154T>G (p.Ser52Ala)
11g.45805955T=CA1968692731SLC35C1c.115T= (p.Ser39=)
c.154T= (p.Ser52=)
11g.45805955_45805956insAAGGACA2613258202SLC35C1c.115_116insAAGGA (p.Ser39Ter)
c.154_155insAAGGA (p.Ser52Ter)
gnomAD v4
11g.45805956C>ACA380202391SLC35C1c.116C>A (p.Ser39Tyr)
c.155C>A (p.Ser52Tyr)
dbSNP gnomAD v4
11g.45805956C=CA1968692735SLC35C1c.116C= (p.Ser39=)
c.155C= (p.Ser52=)
11g.45805956C>GCA380202392SLC35C1c.116C>G (p.Ser39Cys)
c.155C>G (p.Ser52Cys)
11g.45805956C>TCA380202393SLC35C1c.116C>T (p.Ser39Phe)
c.155C>T (p.Ser52Phe)
11g.45805957C>ACA474036490SLC35C1c.117C>A (p.Ser39=)
c.156C>A (p.Ser52=)
11g.45805957C>GCA474036491SLC35C1c.117C>G (p.Ser39=)
c.156C>G (p.Ser52=)
11g.45805957C>TCA474036492SLC35C1c.117C>T (p.Ser39=)
c.156C>T (p.Ser52=)
11g.45805958A>CCA380202394SLC35C1c.118A>C (p.Ile40Leu)
c.157A>C (p.Ile53Leu)
11g.45805958A>GCA380202395SLC35C1c.118A>G (p.Ile40Val)
c.157A>G (p.Ile53Val)
gnomAD v4
11g.45805958A>TCA380202396SLC35C1c.118A>T (p.Ile40Phe)
c.157A>T (p.Ile53Phe)
11g.45805959T>ACA380202397SLC35C1c.119T>A (p.Ile40Asn)
c.158T>A (p.Ile53Asn)
11g.45805959T>CCA380202399SLC35C1c.119T>C (p.Ile40Thr)
c.158T>C (p.Ile53Thr)
gnomAD v4 COSMIC
11g.45805959T>GCA380202398SLC35C1c.119T>G (p.Ile40Ser)
c.158T>G (p.Ile53Ser)
11g.45805960C>ACA474036494SLC35C1c.120C>A (p.Ile40=)
c.159C>A (p.Ile53=)
11g.45805960C>GCA380202400SLC35C1c.120C>G (p.Ile40Met)
c.159C>G (p.Ile53Met)
11g.45805960C>TCA474036495SLC35C1c.120C>T (p.Ile40=)
c.159C>T (p.Ile53=)
11g.45805961T>ACA380202401SLC35C1c.121T>A (p.Ser41Thr)
c.160T>A (p.Ser54Thr)
11g.45805961T>CCA380202402SLC35C1c.121T>C (p.Ser41Pro)
c.160T>C (p.Ser54Pro)
11g.45805961T>GCA380202403SLC35C1c.121T>G (p.Ser41Ala)
c.160T>G (p.Ser54Ala)
11g.45805962C>ACA380202404SLC35C1c.122C>A (p.Ser41Tyr)
c.161C>A (p.Ser54Tyr)
11g.45805962C>GCA380202405SLC35C1c.122C>G (p.Ser41Cys)
c.161C>G (p.Ser54Cys)
gnomAD v4
11g.45805962C>TCA380202406SLC35C1c.122C>T (p.Ser41Phe)
c.161C>T (p.Ser54Phe)
gnomAD v4
11g.45805963C>ACA474036496SLC35C1c.123C>A (p.Ser41=)
c.162C>A (p.Ser54=)
11g.45805963C=CA1968692737SLC35C1c.123C= (p.Ser41=)
c.162C= (p.Ser54=)
11g.45805963C>GCA474036499SLC35C1c.123C>G (p.Ser41=)
c.162C>G (p.Ser54=)
11g.45805963C>TCA5958195SLC35C1c.123C>T (p.Ser41=)
c.162C>T (p.Ser54=)
dbSNP ExAC gnomAD v3 gnomAD v4
11g.45805964A=CA1968692744SLC35C1c.124A= (p.Met42=)
c.163A= (p.Met55=)
11g.45805964A>CCA380202407SLC35C1c.124A>C (p.Met42Leu)
c.163A>C (p.Met55Leu)
11g.45805964A>GCA5958196SLC35C1c.124A>G (p.Met42Val)
c.163A>G (p.Met55Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45805964A>TCA380202408SLC35C1c.124A>T (p.Met42Leu)
c.163A>T (p.Met55Leu)
11g.45805965T>ACA380202411SLC35C1c.125T>A (p.Met42Lys)
c.164T>A (p.Met55Lys)
11g.45805965T>CCA380202410SLC35C1c.125T>C (p.Met42Thr)
c.164T>C (p.Met55Thr)
dbSNP gnomAD v2 gnomAD v4
11g.45805965T>GCA380202409SLC35C1c.125T>G (p.Met42Arg)
c.164T>G (p.Met55Arg)
11g.45805965T=CA1968692750SLC35C1c.125T= (p.Met42=)
c.164T= (p.Met55=)
11g.45805966G>ACA221585056SLC35C1c.126G>A (p.Met42Ile)
c.165G>A (p.Met55Ile)
dbSNP gnomAD v3 gnomAD v4
11g.45805966G>CCA380202413SLC35C1c.126G>C (p.Met42Ile)
c.165G>C (p.Met55Ile)
11g.45805966G=CA1968692755SLC35C1c.126G= (p.Met42=)
c.165G= (p.Met55=)
11g.45805966G>TCA380202412SLC35C1c.126G>T (p.Met42Ile)
c.165G>T (p.Met55Ile)
11g.45805967G>ACA380202414SLC35C1c.127G>A (p.Val43Met)
c.166G>A (p.Val56Met)
11g.45805967G>CCA380202415SLC35C1c.127G>C (p.Val43Leu)
c.166G>C (p.Val56Leu)
11g.45805967G=CA1968692762SLC35C1c.127G= (p.Val43=)
c.166G= (p.Val56=)
11g.45805967G>TCA221585058SLC35C1c.127G>T (p.Val43Leu)
c.166G>T (p.Val56Leu)
dbSNP gnomAD v3 gnomAD v4
11g.45805968T>ACA380202416SLC35C1c.128T>A (p.Val43Glu)
c.167T>A (p.Val56Glu)
11g.45805968T>CCA380202417SLC35C1c.128T>C (p.Val43Ala)
c.167T>C (p.Val56Ala)
11g.45805968T>GCA380202418SLC35C1c.128T>G (p.Val43Gly)
c.167T>G (p.Val56Gly)
11g.45805969G>ACA474036503SLC35C1c.129G>A (p.Val43=)
c.168G>A (p.Val56=)
dbSNP
11g.45805969G>CCA474036504SLC35C1c.129G>C (p.Val43=)
c.168G>C (p.Val56=)
11g.45805969G=CA1968692766SLC35C1c.129G= (p.Val43=)
c.168G= (p.Val56=)
11g.45805969G>TCA474036505SLC35C1c.129G>T (p.Val43=)
c.168G>T (p.Val56=)
11g.45805970T>ACA380202419SLC35C1c.130T>A (p.Phe44Ile)
c.169T>A (p.Phe57Ile)
11g.45805970T>CCA380202420SLC35C1c.130T>C (p.Phe44Leu)
c.169T>C (p.Phe57Leu)
11g.45805970T>GCA380202421SLC35C1c.130T>G (p.Phe44Val)
c.169T>G (p.Phe57Val)
11g.45805971T>ACA380202422SLC35C1c.131T>A (p.Phe44Tyr)
c.170T>A (p.Phe57Tyr)
11g.45805971T>CCA380202423SLC35C1c.131T>C (p.Phe44Ser)
c.170T>C (p.Phe57Ser)
11g.45805971T>GCA380202424SLC35C1c.131T>G (p.Phe44Cys)
c.170T>G (p.Phe57Cys)
11g.45805972C>ACA380202426SLC35C1c.132C>A (p.Phe44Leu)
c.171C>A (p.Phe57Leu)
11g.45805972C=CA1968692769SLC35C1c.132C= (p.Phe44=)
c.171C= (p.Phe57=)
11g.45805972C>GCA380202425SLC35C1c.132C>G (p.Phe44Leu)
c.171C>G (p.Phe57Leu)
11g.45805972C>TCA221585059SLC35C1c.132C>T (p.Phe44=)
c.171C>T (p.Phe57=)
dbSNP gnomAD v3 gnomAD v4
11g.45805973C>ACA380202427SLC35C1c.133C>A (p.Leu45Ile)
c.172C>A (p.Leu58Ile)
11g.45805973C>GCA380202428SLC35C1c.133C>G (p.Leu45Val)
c.172C>G (p.Leu58Val)
11g.45805973C>TCA380202429SLC35C1c.133C>T (p.Leu45Phe)
c.172C>T (p.Leu58Phe)

Number of alleles fetched