Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.45806165G>ACA380202819SLC35C1c.325G>A (p.Val109Met)
c.364G>A (p.Val122Met)
gnomAD v4
11g.45806165G>CCA380202820SLC35C1c.325G>C (p.Val109Leu)
c.364G>C (p.Val122Leu)
11g.45806165G>TCA380202821SLC35C1c.325G>T (p.Val109Leu)
c.364G>T (p.Val122Leu)
11g.45806166T>ACA221585329SLC35C1c.326T>A (p.Val109Glu)
c.365T>A (p.Val122Glu)
dbSNP
11g.45806166T>CCA380202822SLC35C1c.326T>C (p.Val109Ala)
c.365T>C (p.Val122Ala)
11g.45806166T>GCA380202823SLC35C1c.326T>G (p.Val109Gly)
c.365T>G (p.Val122Gly)
11g.45806166T=CA1968693038SLC35C1c.326T= (p.Val109=)
c.365T= (p.Val122=)
11g.45806166_45806167delinsTGCA1968693039SLC35C1c.326_327delinsTG (p.Val109=)
c.365_366delinsTG (p.Val122=)
11g.45806167G>ACA474036633SLC35C1c.327G>A (p.Val109=)
c.366G>A (p.Val122=)
dbSNP gnomAD v2 gnomAD v4
11g.45806167G>CCA474036634SLC35C1c.327G>C (p.Val109=)
c.366G>C (p.Val122=)
11g.45806167G=CA1968693040SLC35C1c.327G= (p.Val109=)
c.366G= (p.Val122=)
11g.45806167G>TCA221585336SLC35C1c.327G>T (p.Val109=)
c.366G>T (p.Val122=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45806168delCA916080423SLC35C1c.328del (p.Val110SerfsTer5)
c.367del (p.Val123SerfsTer5)
ClinVar dbSNP gnomAD v4
11g.45806168G>ACA380202826SLC35C1c.328G>A (p.Val110Ile)
c.367G>A (p.Val123Ile)
dbSNP gnomAD v4
11g.45806168G>CCA380202825SLC35C1c.328G>C (p.Val110Leu)
c.367G>C (p.Val123Leu)
11g.45806168G=CA1968693041SLC35C1c.328G= (p.Val110=)
c.367G= (p.Val123=)
11g.45806168G>TCA380202824SLC35C1c.328G>T (p.Val110Phe)
c.367G>T (p.Val123Phe)
gnomAD v4
11g.45806169T>ACA380202827SLC35C1c.329T>A (p.Val110Asp)
c.368T>A (p.Val123Asp)
11g.45806169T>CCA380202828SLC35C1c.329T>C (p.Val110Ala)
c.368T>C (p.Val123Ala)
11g.45806169T>GCA380202829SLC35C1c.329T>G (p.Val110Gly)
c.368T>G (p.Val123Gly)
gnomAD v4
11g.45806170C>ACA474036635SLC35C1c.330C>A (p.Val110=)
c.369C>A (p.Val123=)
11g.45806170C>GCA474036637SLC35C1c.330C>G (p.Val110=)
c.369C>G (p.Val123=)
11g.45806170C>TCA474036636SLC35C1c.330C>T (p.Val110=)
c.369C>T (p.Val123=)
gnomAD v4
11g.45806171T>ACA380202830SLC35C1c.331T>A (p.Phe111Ile)
c.370T>A (p.Phe124Ile)
11g.45806171T>CCA380202831SLC35C1c.331T>C (p.Phe111Leu)
c.370T>C (p.Phe124Leu)
COSMIC
11g.45806171T>GCA380202832SLC35C1c.331T>G (p.Phe111Val)
c.370T>G (p.Phe124Val)
11g.45806172T>ACA380202833SLC35C1c.332T>A (p.Phe111Tyr)
c.371T>A (p.Phe124Tyr)
gnomAD v4
11g.45806172T>CCA380202834SLC35C1c.332T>C (p.Phe111Ser)
c.371T>C (p.Phe124Ser)
gnomAD v4
11g.45806172T>GCA380202835SLC35C1c.332T>G (p.Phe111Cys)
c.371T>G (p.Phe124Cys)
11g.45806173C>ACA380202836SLC35C1c.333C>A (p.Phe111Leu)
c.372C>A (p.Phe124Leu)
11g.45806173C=CA1968693042SLC35C1c.333C= (p.Phe111=)
c.372C= (p.Phe124=)
11g.45806173C>GCA380202837SLC35C1c.333C>G (p.Phe111Leu)
c.372C>G (p.Phe124Leu)
11g.45806173C>TCA474036638SLC35C1c.333C>T (p.Phe111=)
c.372C>T (p.Phe124=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.45806174A=CA1968693043SLC35C1c.334A= (p.Ile112=)
c.373A= (p.Ile125=)
11g.45806174A>CCA380202838SLC35C1c.334A>C (p.Ile112Leu)
c.373A>C (p.Ile125Leu)
11g.45806174A>GCA5958232SLC35C1c.334A>G (p.Ile112Val)
c.373A>G (p.Ile125Val)
dbSNP ExAC gnomAD v4
11g.45806174A>TCA380202839SLC35C1c.334A>T (p.Ile112Phe)
c.373A>T (p.Ile125Phe)
11g.45806175T>ACA380202841SLC35C1c.335T>A (p.Ile112Asn)
c.374T>A (p.Ile125Asn)
11g.45806175T>CCA380202842SLC35C1c.335T>C (p.Ile112Thr)
c.374T>C (p.Ile125Thr)
dbSNP gnomAD v4
11g.45806175T>GCA380202840SLC35C1c.335T>G (p.Ile112Ser)
c.374T>G (p.Ile125Ser)
11g.45806175T=CA1968693044SLC35C1c.335T= (p.Ile112=)
c.374T= (p.Ile125=)
11g.45806176C>ACA474036639SLC35C1c.336C>A (p.Ile112=)
c.375C>A (p.Ile125=)
11g.45806176C=CA1968693045SLC35C1c.336C= (p.Ile112=)
c.375C= (p.Ile125=)
11g.45806176C>GCA380202843SLC35C1c.336C>G (p.Ile112Met)
c.375C>G (p.Ile125Met)
ClinVar dbSNP
11g.45806176C>TCA5958233SLC35C1c.336C>T (p.Ile112=)
c.375C>T (p.Ile125=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806177G>ACA5958234SLC35C1c.337G>A (p.Gly113Ser)
c.376G>A (p.Gly126Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45806177G>CCA380202844SLC35C1c.337G>C (p.Gly113Arg)
c.376G>C (p.Gly126Arg)
11g.45806177G=CA1968693046SLC35C1c.337G= (p.Gly113=)
c.376G= (p.Gly126=)
11g.45806177G>TCA380202845SLC35C1c.337G>T (p.Gly113Cys)
c.376G>T (p.Gly126Cys)
gnomAD v4
11g.45806178G>ACA380202846SLC35C1c.338G>A (p.Gly113Asp)
c.377G>A (p.Gly126Asp)
ClinVar dbSNP
11g.45806178G>CCA380202847SLC35C1c.338G>C (p.Gly113Ala)
c.377G>C (p.Gly126Ala)
11g.45806178G=CA1968693047SLC35C1c.338G= (p.Gly113=)
c.377G= (p.Gly126=)
11g.45806178G>TCA380202848SLC35C1c.338G>T (p.Gly113Val)
c.377G>T (p.Gly126Val)
gnomAD v4
11g.45806179C>ACA474036641SLC35C1c.339C>A (p.Gly113=)
c.378C>A (p.Gly126=)
11g.45806179C=CA1968693048SLC35C1c.339C= (p.Gly113=)
c.378C= (p.Gly126=)
11g.45806179C>GCA474036640SLC35C1c.339C>G (p.Gly113=)
c.378C>G (p.Gly126=)
11g.45806179C>TCA5958235SLC35C1c.339C>T (p.Gly113=)
c.378C>T (p.Gly126=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45806180A>CCA380202849SLC35C1c.340A>C (p.Met114Leu)
c.379A>C (p.Met127Leu)
11g.45806180A>GCA380202850SLC35C1c.340A>G (p.Met114Val)
c.379A>G (p.Met127Val)
gnomAD v4
11g.45806180A>TCA380202851SLC35C1c.340A>T (p.Met114Leu)
c.379A>T (p.Met127Leu)
11g.45806181T>ACA380202853SLC35C1c.341T>A (p.Met114Lys)
c.380T>A (p.Met127Lys)
11g.45806181T>CCA221585367SLC35C1c.341T>C (p.Met114Thr)
c.380T>C (p.Met127Thr)
dbSNP
11g.45806181T>GCA380202852SLC35C1c.341T>G (p.Met114Arg)
c.380T>G (p.Met127Arg)
gnomAD v4
11g.45806181T=CA1968693049SLC35C1c.341T= (p.Met114=)
c.380T= (p.Met127=)
11g.45806182G>ACA380202854SLC35C1c.342G>A (p.Met114Ile)
c.381G>A (p.Met127Ile)
11g.45806182G>CCA380202855SLC35C1c.342G>C (p.Met114Ile)
c.381G>C (p.Met127Ile)
11g.45806182G>TCA380202856SLC35C1c.342G>T (p.Met114Ile)
c.381G>T (p.Met127Ile)
ClinVar
11g.45806183A=CA1968693050SLC35C1c.343A= (p.Ile115=)
c.382A= (p.Ile128=)
11g.45806183A>CCA380202857SLC35C1c.343A>C (p.Ile115Leu)
c.382A>C (p.Ile128Leu)
11g.45806183A>GCA380202858SLC35C1c.343A>G (p.Ile115Val)
c.382A>G (p.Ile128Val)
dbSNP
11g.45806183A>TCA380202859SLC35C1c.343A>T (p.Ile115Phe)
c.382A>T (p.Ile128Phe)
gnomAD v4
11g.45806184T>ACA380202860SLC35C1c.344T>A (p.Ile115Asn)
c.383T>A (p.Ile128Asn)
gnomAD v4
11g.45806184T>CCA380202862SLC35C1c.344T>C (p.Ile115Thr)
c.383T>C (p.Ile128Thr)
11g.45806184T>GCA380202861SLC35C1c.344T>G (p.Ile115Ser)
c.383T>G (p.Ile128Ser)
11g.45806185C>ACA474036642SLC35C1c.345C>A (p.Ile115=)
c.384C>A (p.Ile128=)
11g.45806185C>GCA380202863SLC35C1c.345C>G (p.Ile115Met)
c.384C>G (p.Ile128Met)
gnomAD v4
11g.45806185C>TCA474036643SLC35C1c.345C>T (p.Ile115=)
c.384C>T (p.Ile128=)
11g.45806186A=CA1968693051SLC35C1c.346A= (p.Thr116=)
c.385A= (p.Thr129=)
11g.45806186A>CCA380202864SLC35C1c.346A>C (p.Thr116Pro)
c.385A>C (p.Thr129Pro)
dbSNP
11g.45806186A>GCA221585384SLC35C1c.346A>G (p.Thr116Ala)
c.385A>G (p.Thr129Ala)
dbSNP gnomAD v3 gnomAD v4
11g.45806186A>TCA380202865SLC35C1c.346A>T (p.Thr116Ser)
c.385A>T (p.Thr129Ser)
11g.45806187C>ACA380202868SLC35C1c.347C>A (p.Thr116Asn)
c.386C>A (p.Thr129Asn)
11g.45806187C=CA1968693052SLC35C1c.347C= (p.Thr116=)
c.386C= (p.Thr129=)
11g.45806187C>GCA380202866SLC35C1c.347C>G (p.Thr116Ser)
c.386C>G (p.Thr129Ser)
11g.45806187C>TCA380202867SLC35C1c.347C>T (p.Thr116Ile)
c.386C>T (p.Thr129Ile)
dbSNP gnomAD v2 gnomAD v4
11g.45806188C>ACA474036644SLC35C1c.348C>A (p.Thr116=)
c.387C>A (p.Thr129=)
11g.45806188C=CA1968693053SLC35C1c.348C= (p.Thr116=)
c.387C= (p.Thr129=)
11g.45806188C>GCA474036645SLC35C1c.348C>G (p.Thr116=)
c.387C>G (p.Thr129=)
dbSNP
11g.45806188C>TCA474036646SLC35C1c.348C>T (p.Thr116=)
c.387C>T (p.Thr129=)
dbSNP gnomAD v2
11g.45806189T>ACA380202869SLC35C1c.349T>A (p.Phe117Ile)
c.388T>A (p.Phe130Ile)
11g.45806189T>CCA380202870SLC35C1c.349T>C (p.Phe117Leu)
c.388T>C (p.Phe130Leu)
11g.45806189T>GCA380202871SLC35C1c.349T>G (p.Phe117Val)
c.388T>G (p.Phe130Val)
dbSNP gnomAD v4
11g.45806189T=CA1968693054SLC35C1c.349T= (p.Phe117=)
c.388T= (p.Phe130=)
11g.45806190T>ACA380202872SLC35C1c.350T>A (p.Phe117Tyr)
c.389T>A (p.Phe130Tyr)
11g.45806190T>CCA380202873SLC35C1c.350T>C (p.Phe117Ser)
c.389T>C (p.Phe130Ser)
11g.45806190T>GCA380202874SLC35C1c.350T>G (p.Phe117Cys)
c.389T>G (p.Phe130Cys)
11g.45806191C>ACA380202875SLC35C1c.351C>A (p.Phe117Leu)
c.390C>A (p.Phe130Leu)
11g.45806191C>GCA380202876SLC35C1c.351C>G (p.Phe117Leu)
c.390C>G (p.Phe130Leu)
11g.45806191C>TCA474036647SLC35C1c.351C>T (p.Phe117=)
c.390C>T (p.Phe130=)
11g.45806192A>CCA380202877SLC35C1c.352A>C (p.Asn118His)
c.391A>C (p.Asn131His)
11g.45806192A>GCA380202878SLC35C1c.352A>G (p.Asn118Asp)
c.391A>G (p.Asn131Asp)
gnomAD v4
11g.45806192A>TCA380202879SLC35C1c.352A>T (p.Asn118Tyr)
c.391A>T (p.Asn131Tyr)
11g.45806193A=CA1968693055SLC35C1c.353A= (p.Asn118=)
c.392A= (p.Asn131=)
11g.45806193A>CCA380202880SLC35C1c.353A>C (p.Asn118Thr)
c.392A>C (p.Asn131Thr)
11g.45806193A>GCA5958236SLC35C1c.353A>G (p.Asn118Ser)
c.392A>G (p.Asn131Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806193A>TCA380202881SLC35C1c.353A>T (p.Asn118Ile)
c.392A>T (p.Asn131Ile)
11g.45806194T>ACA380202883SLC35C1c.354T>A (p.Asn118Lys)
c.393T>A (p.Asn131Lys)
gnomAD v4
11g.45806194T>CCA474036648SLC35C1c.354T>C (p.Asn118=)
c.393T>C (p.Asn131=)
11g.45806194T>GCA380202882SLC35C1c.354T>G (p.Asn118Lys)
c.393T>G (p.Asn131Lys)
11g.45806195A=CA1968693056SLC35C1c.355A= (p.Asn119=)
c.394A= (p.Asn132=)
11g.45806195A>CCA380202884SLC35C1c.355A>C (p.Asn119His)
c.394A>C (p.Asn132His)
dbSNP
11g.45806195A>GCA380202885SLC35C1c.355A>G (p.Asn119Asp)
c.394A>G (p.Asn132Asp)
11g.45806195A>TCA380202886SLC35C1c.355A>T (p.Asn119Tyr)
c.394A>T (p.Asn132Tyr)
gnomAD v4
11g.45806196A=CA1968693057SLC35C1c.356A= (p.Asn119=)
c.395A= (p.Asn132=)
11g.45806196A>CCA380202887SLC35C1c.356A>C (p.Asn119Thr)
c.395A>C (p.Asn132Thr)
11g.45806196A>GCA380202888SLC35C1c.356A>G (p.Asn119Ser)
c.395A>G (p.Asn132Ser)
11g.45806196A>TCA380202889SLC35C1c.356A>T (p.Asn119Ile)
c.395A>T (p.Asn132Ile)
dbSNP gnomAD v3 gnomAD v4
11g.45806197C>ACA380202891SLC35C1c.357C>A (p.Asn119Lys)
c.396C>A (p.Asn132Lys)
11g.45806197C=CA1968693058SLC35C1c.357C= (p.Asn119=)
c.396C= (p.Asn132=)
11g.45806197C>GCA380202890SLC35C1c.357C>G (p.Asn119Lys)
c.396C>G (p.Asn132Lys)
dbSNP
11g.45806197C>TCA474036649SLC35C1c.357C>T (p.Asn119=)
c.396C>T (p.Asn132=)
11g.45806198C>ACA380202892SLC35C1c.358C>A (p.Leu120Ile)
c.397C>A (p.Leu133Ile)
11g.45806198C=CA1968693059SLC35C1c.358C= (p.Leu120=)
c.397C= (p.Leu133=)
11g.45806198C>GCA380202893SLC35C1c.358C>G (p.Leu120Val)
c.397C>G (p.Leu133Val)
11g.45806198C>TCA380202894SLC35C1c.358C>T (p.Leu120Phe)
c.397C>T (p.Leu133Phe)
dbSNP
11g.45806199T>ACA380202895SLC35C1c.359T>A (p.Leu120His)
c.398T>A (p.Leu133His)
11g.45806199T>CCA380202896SLC35C1c.359T>C (p.Leu120Pro)
c.398T>C (p.Leu133Pro)
11g.45806199T>GCA380202897SLC35C1c.359T>G (p.Leu120Arg)
c.398T>G (p.Leu133Arg)
11g.45806200C>ACA474036650SLC35C1c.360C>A (p.Leu120=)
c.399C>A (p.Leu133=)
gnomAD v4
11g.45806200C>GCA474036652SLC35C1c.360C>G (p.Leu120=)
c.399C>G (p.Leu133=)
11g.45806200C>TCA474036651SLC35C1c.360C>T (p.Leu120=)
c.399C>T (p.Leu133=)
11g.45806201T>ACA380202898SLC35C1c.361T>A (p.Cys121Ser)
c.400T>A (p.Cys134Ser)
11g.45806201T>CCA5958237SLC35C1c.361T>C (p.Cys121Arg)
c.400T>C (p.Cys134Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806201T>GCA380202899SLC35C1c.361T>G (p.Cys121Gly)
c.400T>G (p.Cys134Gly)
11g.45806201T=CA1968693060SLC35C1c.361T= (p.Cys121=)
c.400T= (p.Cys134=)
11g.45806202G>ACA380202900SLC35C1c.362G>A (p.Cys121Tyr)
c.401G>A (p.Cys134Tyr)
11g.45806202G>CCA380202901SLC35C1c.362G>C (p.Cys121Ser)
c.401G>C (p.Cys134Ser)
gnomAD v4
11g.45806202G>TCA380202902SLC35C1c.362G>T (p.Cys121Phe)
c.401G>T (p.Cys134Phe)
gnomAD v4
11g.45806203C>ACA380202903SLC35C1c.363C>A (p.Cys121Ter)
c.402C>A (p.Cys134Ter)
11g.45806203C=CA1968693061SLC35C1c.363C= (p.Cys121=)
c.402C= (p.Cys134=)
11g.45806203C>GCA380202904SLC35C1c.363C>G (p.Cys121Trp)
c.402C>G (p.Cys134Trp)
11g.45806203C>TCA221585394SLC35C1c.363C>T (p.Cys121=)
c.402C>T (p.Cys134=)
ClinVar dbSNP
11g.45806204C>ACA380202907SLC35C1c.364C>A (p.Leu122Ile)
c.403C>A (p.Leu135Ile)
11g.45806204C>GCA380202906SLC35C1c.364C>G (p.Leu122Val)
c.403C>G (p.Leu135Val)
11g.45806204C>TCA380202905SLC35C1c.364C>T (p.Leu122Phe)
c.403C>T (p.Leu135Phe)
11g.45806205T>ACA380202908SLC35C1c.365T>A (p.Leu122His)
c.404T>A (p.Leu135His)
11g.45806205T>CCA380202909SLC35C1c.365T>C (p.Leu122Pro)
c.404T>C (p.Leu135Pro)
11g.45806205T>GCA380202910SLC35C1c.365T>G (p.Leu122Arg)
c.404T>G (p.Leu135Arg)
11g.45806206C>ACA474036653SLC35C1c.366C>A (p.Leu122=)
c.405C>A (p.Leu135=)
11g.45806206C>GCA474036654SLC35C1c.366C>G (p.Leu122=)
c.405C>G (p.Leu135=)
11g.45806206C>TCA474036655SLC35C1c.366C>T (p.Leu122=)
c.405C>T (p.Leu135=)
gnomAD v4
11g.45806207A>CCA380202911SLC35C1c.367A>C (p.Lys123Gln)
c.406A>C (p.Lys136Gln)
11g.45806207A>GCA380202912SLC35C1c.367A>G (p.Lys123Glu)
c.406A>G (p.Lys136Glu)
gnomAD v4
11g.45806207A>TCA380202913SLC35C1c.367A>T (p.Lys123Ter)
c.406A>T (p.Lys136Ter)
11g.45806208A=CA1968693062SLC35C1c.368A= (p.Lys123=)
c.407A= (p.Lys136=)
11g.45806208A>CCA380202914SLC35C1c.368A>C (p.Lys123Thr)
c.407A>C (p.Lys136Thr)
11g.45806208A>GCA5958238SLC35C1c.368A>G (p.Lys123Arg)
c.407A>G (p.Lys136Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45806208A>TCA380202915SLC35C1c.368A>T (p.Lys123Met)
c.407A>T (p.Lys136Met)
11g.45806209G>ACA474036656SLC35C1c.369G>A (p.Lys123=)
c.408G>A (p.Lys136=)
ClinVar dbSNP
11g.45806209G>CCA380202916SLC35C1c.369G>C (p.Lys123Asn)
c.408G>C (p.Lys136Asn)
11g.45806209G=CA1968693063SLC35C1c.369G= (p.Lys123=)
c.408G= (p.Lys136=)
11g.45806209G>TCA380202917SLC35C1c.369G>T (p.Lys123Asn)
c.408G>T (p.Lys136Asn)
dbSNP gnomAD v2 gnomAD v4
11g.45806211_45806214delCA2613258209SLC35C1c.371_374del (p.Tyr124SerfsTer?)
c.410_413del (p.Tyr137SerfsTer?)
gnomAD v4
11g.45806210T>ACA380202918SLC35C1c.370T>A (p.Tyr124Asn)
c.409T>A (p.Tyr137Asn)
11g.45806210T>CCA380202919SLC35C1c.370T>C (p.Tyr124His)
c.409T>C (p.Tyr137His)
11g.45806210T>GCA380202920SLC35C1c.370T>G (p.Tyr124Asp)
c.409T>G (p.Tyr137Asp)
11g.45806211A=CA1968693064SLC35C1c.371A= (p.Tyr124=)
c.410A= (p.Tyr137=)
11g.45806211A>CCA380202921SLC35C1c.371A>C (p.Tyr124Ser)
c.410A>C (p.Tyr137Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45806211A>GCA380202922SLC35C1c.371A>G (p.Tyr124Cys)
c.410A>G (p.Tyr137Cys)
11g.45806211A>TCA380202923SLC35C1c.371A>T (p.Tyr124Phe)
c.410A>T (p.Tyr137Phe)
11g.45806212C>ACA380202924SLC35C1c.372C>A (p.Tyr124Ter)
c.411C>A (p.Tyr137Ter)
11g.45806212C=CA1968693065SLC35C1c.372C= (p.Tyr124=)
c.411C= (p.Tyr137=)
11g.45806212C>GCA380202925SLC35C1c.372C>G (p.Tyr124Ter)
c.411C>G (p.Tyr137Ter)
11g.45806212C>TCA474036657SLC35C1c.372C>T (p.Tyr124=)
c.411C>T (p.Tyr137=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.45806213G>ACA380202926SLC35C1c.373G>A (p.Val125Ile)
c.412G>A (p.Val138Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.45806213G>CCA380202928SLC35C1c.373G>C (p.Val125Leu)
c.412G>C (p.Val138Leu)
11g.45806213G=CA1968693066SLC35C1c.373G= (p.Val125=)
c.412G= (p.Val138=)
11g.45806213G>TCA380202927SLC35C1c.373G>T (p.Val125Phe)
c.412G>T (p.Val138Phe)
gnomAD v4
11g.45806214T>ACA380202929SLC35C1c.374T>A (p.Val125Asp)
c.413T>A (p.Val138Asp)
11g.45806214T>CCA380202931SLC35C1c.374T>C (p.Val125Ala)
c.413T>C (p.Val138Ala)
11g.45806214T>GCA380202930SLC35C1c.374T>G (p.Val125Gly)
c.413T>G (p.Val138Gly)
11g.45806215C>ACA474036658SLC35C1c.375C>A (p.Val125=)
c.414C>A (p.Val138=)
dbSNP gnomAD v4
11g.45806215C=CA1968693067SLC35C1c.375C= (p.Val125=)
c.414C= (p.Val138=)
11g.45806215C>GCA474036659SLC35C1c.375C>G (p.Val125=)
c.414C>G (p.Val138=)
dbSNP
11g.45806215C>TCA474036660SLC35C1c.375C>T (p.Val125=)
c.414C>T (p.Val138=)
dbSNP gnomAD v4
11g.45806216G>ACA380202932SLC35C1c.376G>A (p.Gly126Ser)
c.415G>A (p.Gly139Ser)
gnomAD v4
11g.45806216G>CCA380202933SLC35C1c.376G>C (p.Gly126Arg)
c.415G>C (p.Gly139Arg)
11g.45806216G>TCA380202934SLC35C1c.376G>T (p.Gly126Cys)
c.415G>T (p.Gly139Cys)
gnomAD v4 COSMIC
11g.45806217G>ACA380202935SLC35C1c.377G>A (p.Gly126Asp)
c.416G>A (p.Gly139Asp)
dbSNP gnomAD v3 gnomAD v4
11g.45806217G>CCA380202936SLC35C1c.377G>C (p.Gly126Ala)
c.416G>C (p.Gly139Ala)
11g.45806217G=CA1968693068SLC35C1c.377G= (p.Gly126=)
c.416G= (p.Gly139=)
11g.45806217G>TCA380202937SLC35C1c.377G>T (p.Gly126Val)
c.416G>T (p.Gly139Val)
gnomAD v4
11g.45806218T>ACA474036661SLC35C1c.378T>A (p.Gly126=)
c.417T>A (p.Gly139=)
11g.45806218T>CCA474036662SLC35C1c.378T>C (p.Gly126=)
c.417T>C (p.Gly139=)
11g.45806218T>GCA474036663SLC35C1c.378T>G (p.Gly126=)
c.417T>G (p.Gly139=)
11g.45806219G>ACA380202940SLC35C1c.379G>A (p.Val127Met)
c.418G>A (p.Val140Met)
11g.45806219G>CCA380202939SLC35C1c.379G>C (p.Val127Leu)
c.418G>C (p.Val140Leu)
11g.45806219G>TCA380202938SLC35C1c.379G>T (p.Val127Leu)
c.418G>T (p.Val140Leu)
11g.45806220T>ACA380202941SLC35C1c.380T>A (p.Val127Glu)
c.419T>A (p.Val140Glu)
11g.45806220T>CCA380202942SLC35C1c.380T>C (p.Val127Ala)
c.419T>C (p.Val140Ala)
gnomAD v4
11g.45806220T>GCA380202943SLC35C1c.380T>G (p.Val127Gly)
c.419T>G (p.Val140Gly)
11g.45806221G>ACA474036664SLC35C1c.381G>A (p.Val127=)
c.420G>A (p.Val140=)
11g.45806221G>CCA474036666SLC35C1c.381G>C (p.Val127=)
c.420G>C (p.Val140=)
11g.45806221G>TCA474036665SLC35C1c.381G>T (p.Val127=)
c.420G>T (p.Val140=)
gnomAD v4
11g.45806222delCA2613258210SLC35C1c.382del (p.Ala128ProfsTer?)
c.421del (p.Ala141ProfsTer?)
gnomAD v4
11g.45806222G>ACA380202944SLC35C1c.382G>A (p.Ala128Thr)
c.421G>A (p.Ala141Thr)
dbSNP gnomAD v2 gnomAD v4
11g.45806222G>CCA380202945SLC35C1c.382G>C (p.Ala128Pro)
c.421G>C (p.Ala141Pro)
11g.45806222G=CA1968693069SLC35C1c.382G= (p.Ala128=)
c.421G= (p.Ala141=)
11g.45806222G>TCA380202946SLC35C1c.382G>T (p.Ala128Ser)
c.421G>T (p.Ala141Ser)
gnomAD v4
11g.45806223C>ACA380202947SLC35C1c.383C>A (p.Ala128Asp)
c.422C>A (p.Ala141Asp)
gnomAD v4
11g.45806223C=CA1968693070SLC35C1c.383C= (p.Ala128=)
c.422C= (p.Ala141=)
11g.45806223C>GCA380202948SLC35C1c.383C>G (p.Ala128Gly)
c.422C>G (p.Ala141Gly)
11g.45806223C>TCA5958239SLC35C1c.383C>T (p.Ala128Val)
c.422C>T (p.Ala141Val)
dbSNP ExAC gnomAD v2
11g.45806224C>ACA474036668SLC35C1c.384C>A (p.Ala128=)
c.423C>A (p.Ala141=)
11g.45806224C=CA1968693071SLC35C1c.384C= (p.Ala128=)
c.423C= (p.Ala141=)
11g.45806224C>GCA474036669SLC35C1c.384C>G (p.Ala128=)
c.423C>G (p.Ala141=)
11g.45806224C>TCA474036671SLC35C1c.384C>T (p.Ala128=)
c.423C>T (p.Ala141=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45806225T>ACA380202949SLC35C1c.385T>A (p.Phe129Ile)
c.424T>A (p.Phe142Ile)
11g.45806225T>CCA380202950SLC35C1c.385T>C (p.Phe129Leu)
c.424T>C (p.Phe142Leu)
11g.45806225T>GCA380202951SLC35C1c.385T>G (p.Phe129Val)
c.424T>G (p.Phe142Val)
11g.45806226T>ACA380202952SLC35C1c.386T>A (p.Phe129Tyr)
c.425T>A (p.Phe142Tyr)
11g.45806226T>CCA380202953SLC35C1c.386T>C (p.Phe129Ser)
c.425T>C (p.Phe142Ser)
11g.45806226T>GCA380202954SLC35C1c.386T>G (p.Phe129Cys)
c.425T>G (p.Phe142Cys)
11g.45806227C>ACA380202955SLC35C1c.387C>A (p.Phe129Leu)
c.426C>A (p.Phe142Leu)
11g.45806227C>GCA380202956SLC35C1c.387C>G (p.Phe129Leu)
c.426C>G (p.Phe142Leu)
11g.45806227C>TCA474036673SLC35C1c.387C>T (p.Phe129=)
c.426C>T (p.Phe142=)
11g.45806228T>ACA380202957SLC35C1c.388T>A (p.Tyr130Asn)
c.427T>A (p.Tyr143Asn)
11g.45806228T>CCA380202958SLC35C1c.388T>C (p.Tyr130His)
c.427T>C (p.Tyr143His)
11g.45806228T>GCA380202959SLC35C1c.388T>G (p.Tyr130Asp)
c.427T>G (p.Tyr143Asp)
11g.45806229A>CCA380202960SLC35C1c.389A>C (p.Tyr130Ser)
c.428A>C (p.Tyr143Ser)
11g.45806229A>GCA380202962SLC35C1c.389A>G (p.Tyr130Cys)
c.428A>G (p.Tyr143Cys)
gnomAD v4
11g.45806229A>TCA380202961SLC35C1c.389A>T (p.Tyr130Phe)
c.428A>T (p.Tyr143Phe)
11g.45806230C>ACA380202963SLC35C1c.390C>A (p.Tyr130Ter)
c.429C>A (p.Tyr143Ter)
dbSNP gnomAD v4
11g.45806230C=CA1968693072SLC35C1c.390C= (p.Tyr130=)
c.429C= (p.Tyr143=)
11g.45806230C>GCA380202964SLC35C1c.390C>G (p.Tyr130Ter)
c.429C>G (p.Tyr143Ter)
11g.45806230C>TCA474036675SLC35C1c.390C>T (p.Tyr130=)
c.429C>T (p.Tyr143=)
11g.45806231A>CCA380202965SLC35C1c.391A>C (p.Asn131His)
c.430A>C (p.Asn144His)
11g.45806231A>GCA380202966SLC35C1c.391A>G (p.Asn131Asp)
c.430A>G (p.Asn144Asp)
gnomAD v4
11g.45806231A>TCA380202967SLC35C1c.391A>T (p.Asn131Tyr)
c.430A>T (p.Asn144Tyr)
11g.45806232A=CA1968693073SLC35C1c.392A= (p.Asn131=)
c.431A= (p.Asn144=)
11g.45806232A>CCA380202968SLC35C1c.392A>C (p.Asn131Thr)
c.431A>C (p.Asn144Thr)
11g.45806232A>GCA5958240SLC35C1c.392A>G (p.Asn131Ser)
c.431A>G (p.Asn144Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806232A>TCA380202969SLC35C1c.392A>T (p.Asn131Ile)
c.431A>T (p.Asn144Ile)
11g.45806233T>ACA380202970SLC35C1c.393T>A (p.Asn131Lys)
c.432T>A (p.Asn144Lys)
11g.45806233T>CCA474036678SLC35C1c.393T>C (p.Asn131=)
c.432T>C (p.Asn144=)
11g.45806233T>GCA380202971SLC35C1c.393T>G (p.Asn131Lys)
c.432T>G (p.Asn144Lys)
11g.45806234G>ACA5958241SLC35C1c.394G>A (p.Val132Met)
c.433G>A (p.Val145Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45806234G>CCA380202972SLC35C1c.394G>C (p.Val132Leu)
c.433G>C (p.Val145Leu)
11g.45806234G=CA1968693074SLC35C1c.394G= (p.Val132=)
c.433G= (p.Val145=)
11g.45806234G>TCA380202973SLC35C1c.394G>T (p.Val132Leu)
c.433G>T (p.Val145Leu)
gnomAD v4 COSMIC
11g.45806235T>ACA380202974SLC35C1c.395T>A (p.Val132Glu)
c.434T>A (p.Val145Glu)
11g.45806235T>CCA380202976SLC35C1c.395T>C (p.Val132Ala)
c.434T>C (p.Val145Ala)
gnomAD v4
11g.45806235T>GCA380202975SLC35C1c.395T>G (p.Val132Gly)
c.434T>G (p.Val145Gly)
11g.45806236G>ACA474036681SLC35C1c.396G>A (p.Val132=)
c.435G>A (p.Val145=)
11g.45806236G>CCA474036682SLC35C1c.396G>C (p.Val132=)
c.435G>C (p.Val145=)
11g.45806236G>TCA474036683SLC35C1c.396G>T (p.Val132=)
c.435G>T (p.Val145=)
11g.45806238delCA2613258211SLC35C1c.398del (p.Gly133AlafsTer?)
c.437del (p.Gly146AlafsTer?)
gnomAD v4
11g.45806237G>ACA380202977SLC35C1c.397G>A (p.Gly133Ser)
c.436G>A (p.Gly146Ser)
11g.45806237G>CCA380202978SLC35C1c.397G>C (p.Gly133Arg)
c.436G>C (p.Gly146Arg)
11g.45806237G>TCA380202979SLC35C1c.397G>T (p.Gly133Cys)
c.436G>T (p.Gly146Cys)
gnomAD v4
11g.45806238G>ACA380202980SLC35C1c.398G>A (p.Gly133Asp)
c.437G>A (p.Gly146Asp)
11g.45806238G>CCA380202981SLC35C1c.398G>C (p.Gly133Ala)
c.437G>C (p.Gly146Ala)
11g.45806238G>TCA380202982SLC35C1c.398G>T (p.Gly133Val)
c.437G>T (p.Gly146Val)
11g.45806239C>ACA474036685SLC35C1c.399C>A (p.Gly133=)
c.438C>A (p.Gly146=)
11g.45806239C=CA1968693075SLC35C1c.399C= (p.Gly133=)
c.438C= (p.Gly146=)
11g.45806239C>GCA474036687SLC35C1c.399C>G (p.Gly133=)
c.438C>G (p.Gly146=)
11g.45806239C>TCA474036688SLC35C1c.399C>T (p.Gly133=)
c.438C>T (p.Gly146=)
dbSNP gnomAD v2 gnomAD v4
11g.45806240C>ACA380202983SLC35C1c.400C>A (p.Arg134Ser)
c.439C>A (p.Arg147Ser)
11g.45806240C=CA1968693076SLC35C1c.400C= (p.Arg134=)
c.439C= (p.Arg147=)
11g.45806240C>GCA380202984SLC35C1c.400C>G (p.Arg134Gly)
c.439C>G (p.Arg147Gly)
11g.45806240C>TCA253271SLC35C1c.400C>T (p.Arg134Cys)
c.439C>T (p.Arg147Cys)
ClinVar dbSNP gnomAD v4 COSMIC
11g.45806241G>ACA10639159SLC35C1c.401G>A (p.Arg134His)
c.440G>A (p.Arg147His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45806241G>CCA380202986SLC35C1c.401G>C (p.Arg134Pro)
c.440G>C (p.Arg147Pro)
11g.45806241G=CA1968693077SLC35C1c.401G= (p.Arg134=)
c.440G= (p.Arg147=)
11g.45806241G>TCA380202985SLC35C1c.401G>T (p.Arg134Leu)
c.440G>T (p.Arg147Leu)
dbSNP gnomAD v2 gnomAD v4
11g.45806242C>ACA474036690SLC35C1c.402C>A (p.Arg134=)
c.441C>A (p.Arg147=)
11g.45806242C>GCA474036691SLC35C1c.402C>G (p.Arg134=)
c.441C>G (p.Arg147=)
11g.45806242C>TCA474036692SLC35C1c.402C>T (p.Arg134=)
c.441C>T (p.Arg147=)
11g.45806247_45806250delCA2613258212SLC35C1c.407_410del (p.Leu136ProfsTer?)
c.446_449del (p.Leu149ProfsTer?)
gnomAD v4
11g.45806243T>ACA380202987SLC35C1c.403T>A (p.Ser135Thr)
c.442T>A (p.Ser148Thr)
11g.45806243T>CCA380202989SLC35C1c.403T>C (p.Ser135Pro)
c.442T>C (p.Ser148Pro)
11g.45806243T>GCA380202988SLC35C1c.403T>G (p.Ser135Ala)
c.442T>G (p.Ser148Ala)
11g.45806244C>ACA380202990SLC35C1c.404C>A (p.Ser135Ter)
c.443C>A (p.Ser148Ter)
11g.45806244C>GCA380202991SLC35C1c.404C>G (p.Ser135Ter)
c.443C>G (p.Ser148Ter)
11g.45806244C>TCA380202992SLC35C1c.404C>T (p.Ser135Leu)
c.443C>T (p.Ser148Leu)
11g.45806245A=CA1968693078SLC35C1c.405A= (p.Ser135=)
c.444A= (p.Ser148=)
11g.45806245A>CCA474036696SLC35C1c.405A>C (p.Ser135=)
c.444A>C (p.Ser148=)
11g.45806245A>GCA5958242SLC35C1c.405A>G (p.Ser135=)
c.444A>G (p.Ser148=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45806245A>TCA474036697SLC35C1c.405A>T (p.Ser135=)
c.444A>T (p.Ser148=)
11g.45806246C>ACA380202993SLC35C1c.406C>A (p.Leu136Ile)
c.445C>A (p.Leu149Ile)
11g.45806246C>GCA380202994SLC35C1c.406C>G (p.Leu136Val)
c.445C>G (p.Leu149Val)
11g.45806246C>TCA380202995SLC35C1c.406C>T (p.Leu136Phe)
c.445C>T (p.Leu149Phe)
11g.45806247T>ACA380202996SLC35C1c.407T>A (p.Leu136His)
c.446T>A (p.Leu149His)
11g.45806247T>CCA380202997SLC35C1c.407T>C (p.Leu136Pro)
c.446T>C (p.Leu149Pro)
11g.45806247T>GCA380202998SLC35C1c.407T>G (p.Leu136Arg)
c.446T>G (p.Leu149Arg)
11g.45806248C>ACA474036698SLC35C1c.408C>A (p.Leu136=)
c.447C>A (p.Leu149=)
11g.45806248C=CA1968693079SLC35C1c.408C= (p.Leu136=)
c.447C= (p.Leu149=)
11g.45806248C>GCA474036699SLC35C1c.408C>G (p.Leu136=)
c.447C>G (p.Leu149=)
11g.45806248C>TCA474036700SLC35C1c.408C>T (p.Leu136=)
c.447C>T (p.Leu149=)
ClinVar dbSNP gnomAD v4
11g.45806249A>CCA380202999SLC35C1c.409A>C (p.Thr137Pro)
c.448A>C (p.Thr150Pro)
11g.45806249A>GCA380203000SLC35C1c.409A>G (p.Thr137Ala)
c.448A>G (p.Thr150Ala)
11g.45806249A>TCA380203001SLC35C1c.409A>T (p.Thr137Ser)
c.448A>T (p.Thr150Ser)
11g.45806250C>ACA380203002SLC35C1c.410C>A (p.Thr137Asn)
c.449C>A (p.Thr150Asn)
11g.45806250C>GCA380203004SLC35C1c.410C>G (p.Thr137Ser)
c.449C>G (p.Thr150Ser)
11g.45806250C>TCA380203003SLC35C1c.410C>T (p.Thr137Ile)
c.449C>T (p.Thr150Ile)
11g.45806251C>ACA474036703SLC35C1c.411C>A (p.Thr137=)
c.450C>A (p.Thr150=)
11g.45806251C=CA1968693080SLC35C1c.411C= (p.Thr137=)
c.450C= (p.Thr150=)
11g.45806251C>GCA474036704SLC35C1c.411C>G (p.Thr137=)
c.450C>G (p.Thr150=)
11g.45806251C>TCA5958243SLC35C1c.411C>T (p.Thr137=)
c.450C>T (p.Thr150=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45806252A>CCA380203005SLC35C1c.412A>C (p.Thr138Pro)
c.451A>C (p.Thr151Pro)
11g.45806252A>GCA380203006SLC35C1c.412A>G (p.Thr138Ala)
c.451A>G (p.Thr151Ala)
11g.45806252A>TCA380203007SLC35C1c.412A>T (p.Thr138Ser)
c.451A>T (p.Thr151Ser)
11g.45806253C>ACA380203008SLC35C1c.413C>A (p.Thr138Asn)
c.452C>A (p.Thr151Asn)
11g.45806253C>GCA380203009SLC35C1c.413C>G (p.Thr138Ser)
c.452C>G (p.Thr151Ser)
11g.45806253C>TCA380203010SLC35C1c.413C>T (p.Thr138Ile)
c.452C>T (p.Thr151Ile)
11g.45806254C>ACA474036706SLC35C1c.414C>A (p.Thr138=)
c.453C>A (p.Thr151=)
11g.45806254C=CA1968693081SLC35C1c.414C= (p.Thr138=)
c.453C= (p.Thr151=)
11g.45806254C>GCA474036707SLC35C1c.414C>G (p.Thr138=)
c.453C>G (p.Thr151=)
gnomAD v4
11g.45806254C>TCA474036708SLC35C1c.414C>T (p.Thr138=)
c.453C>T (p.Thr151=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45806255G>ACA5958244SLC35C1c.415G>A (p.Val139Ile)
c.454G>A (p.Val152Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806255G>CCA380203011SLC35C1c.415G>C (p.Val139Leu)
c.454G>C (p.Val152Leu)
11g.45806255G=CA1968693082SLC35C1c.415G= (p.Val139=)
c.454G= (p.Val152=)
11g.45806255G>TCA380203012SLC35C1c.415G>T (p.Val139Phe)
c.454G>T (p.Val152Phe)
gnomAD v4
11g.45806256T>ACA380203015SLC35C1c.416T>A (p.Val139Asp)
c.455T>A (p.Val152Asp)
11g.45806256T>CCA380203014SLC35C1c.416T>C (p.Val139Ala)
c.455T>C (p.Val152Ala)
11g.45806256T>GCA380203013SLC35C1c.416T>G (p.Val139Gly)
c.455T>G (p.Val152Gly)
11g.45806257C>ACA474036710SLC35C1c.417C>A (p.Val139=)
c.456C>A (p.Val152=)
11g.45806257C>GCA474036711SLC35C1c.417C>G (p.Val139=)
c.456C>G (p.Val152=)
11g.45806257C>TCA474036712SLC35C1c.417C>T (p.Val139=)
c.456C>T (p.Val152=)
gnomAD v4
11g.45806258T>ACA380203016SLC35C1c.418T>A (p.Phe140Ile)
c.457T>A (p.Phe153Ile)
11g.45806258T>CCA380203017SLC35C1c.418T>C (p.Phe140Leu)
c.457T>C (p.Phe153Leu)
11g.45806258T>GCA380203018SLC35C1c.418T>G (p.Phe140Val)
c.457T>G (p.Phe153Val)
gnomAD v4
11g.45806259T>ACA380203019SLC35C1c.419T>A (p.Phe140Tyr)
c.458T>A (p.Phe153Tyr)
11g.45806259T>CCA380203020SLC35C1c.419T>C (p.Phe140Ser)
c.458T>C (p.Phe153Ser)
11g.45806259T>GCA380203021SLC35C1c.419T>G (p.Phe140Cys)
c.458T>G (p.Phe153Cys)
11g.45806260C>ACA380203022SLC35C1c.420C>A (p.Phe140Leu)
c.459C>A (p.Phe153Leu)
11g.45806260C=CA1968693083SLC35C1c.420C= (p.Phe140=)
c.459C= (p.Phe153=)
11g.45806260C>GCA380203023SLC35C1c.420C>G (p.Phe140Leu)
c.459C>G (p.Phe153Leu)
11g.45806260C>TCA474036713SLC35C1c.420C>T (p.Phe140=)
c.459C>T (p.Phe153=)
dbSNP gnomAD v2 gnomAD v4
11g.45806261A>CCA380203024SLC35C1c.421A>C (p.Asn141His)
c.460A>C (p.Asn154His)
11g.45806261A>GCA380203025SLC35C1c.421A>G (p.Asn141Asp)
c.460A>G (p.Asn154Asp)
11g.45806261A>TCA380203026SLC35C1c.421A>T (p.Asn141Tyr)
c.460A>T (p.Asn154Tyr)
11g.45806262A>CCA380203027SLC35C1c.422A>C (p.Asn141Thr)
c.461A>C (p.Asn154Thr)
ClinVar
11g.45806262A>GCA380203028SLC35C1c.422A>G (p.Asn141Ser)
c.461A>G (p.Asn154Ser)
gnomAD v4
11g.45806262A>TCA380203029SLC35C1c.422A>T (p.Asn141Ile)
c.461A>T (p.Asn154Ile)
11g.45806263C>ACA380203030SLC35C1c.423C>A (p.Asn141Lys)
c.462C>A (p.Asn154Lys)
11g.45806263C>GCA380203031SLC35C1c.423C>G (p.Asn141Lys)
c.462C>G (p.Asn154Lys)
11g.45806263C>TCA474036721SLC35C1c.423C>T (p.Asn141=)
c.462C>T (p.Asn154=)
gnomAD v4 COSMIC
11g.45806264G>ACA380203032SLC35C1c.424G>A (p.Val142Met)
c.463G>A (p.Val155Met)
11g.45806264G>CCA380203033SLC35C1c.424G>C (p.Val142Leu)
c.463G>C (p.Val155Leu)
11g.45806264G>TCA380203034SLC35C1c.424G>T (p.Val142Leu)
c.463G>T (p.Val155Leu)
gnomAD v4
11g.45806265T>ACA380203035SLC35C1c.425T>A (p.Val142Glu)
c.464T>A (p.Val155Glu)
11g.45806265T>CCA380203036SLC35C1c.425T>C (p.Val142Ala)
c.464T>C (p.Val155Ala)
11g.45806265T>GCA380203037SLC35C1c.425T>G (p.Val142Gly)
c.464T>G (p.Val155Gly)
11g.45806269_45806271dupCA2580615664SLC35C1c.429_431dup (p.Leu144_Ser145insLeu)
c.468_470dup (p.Leu157_Ser158insLeu)
ClinVar dbSNP

Number of alleles fetched