Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.45805988C>ACA380202460SLC35C1c.148C>A (p.Leu50Met)
c.187C>A (p.Leu63Met)
11g.45805988C=CA1968692797SLC35C1c.148C= (p.Leu50=)
c.187C= (p.Leu63=)
11g.45805988C>GCA380202461SLC35C1c.148C>G (p.Leu50Val)
c.187C>G (p.Leu63Val)
11g.45805988C>TCA474036528SLC35C1c.148C>T (p.Leu50=)
c.187C>T (p.Leu63=)
dbSNP gnomAD v3 gnomAD v4
11g.45805989T>ACA380202462SLC35C1c.149T>A (p.Leu50Gln)
c.188T>A (p.Leu63Gln)
11g.45805989T>CCA380202463SLC35C1c.149T>C (p.Leu50Pro)
c.188T>C (p.Leu63Pro)
11g.45805989T>GCA380202464SLC35C1c.149T>G (p.Leu50Arg)
c.188T>G (p.Leu63Arg)
11g.45805990G>ACA474036529SLC35C1c.150G>A (p.Leu50=)
c.189G>A (p.Leu63=)
11g.45805990G>CCA474036531SLC35C1c.150G>C (p.Leu50=)
c.189G>C (p.Leu63=)
11g.45805990G>TCA474036530SLC35C1c.150G>T (p.Leu50=)
c.189G>T (p.Leu63=)
11g.45805991G>ACA380202466SLC35C1c.151G>A (p.Asp51Asn)
c.190G>A (p.Asp64Asn)
11g.45805991G>CCA5958199SLC35C1c.151G>C (p.Asp51His)
c.190G>C (p.Asp64His)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45805991G=CA1968692801SLC35C1c.151G= (p.Asp51=)
c.190G= (p.Asp64=)
11g.45805991G>TCA380202465SLC35C1c.151G>T (p.Asp51Tyr)
c.190G>T (p.Asp64Tyr)
11g.45805992A>CCA380202467SLC35C1c.152A>C (p.Asp51Ala)
c.191A>C (p.Asp64Ala)
11g.45805992A>GCA380202469SLC35C1c.152A>G (p.Asp51Gly)
c.191A>G (p.Asp64Gly)
11g.45805992A>TCA380202468SLC35C1c.152A>T (p.Asp51Val)
c.191A>T (p.Asp64Val)
11g.45805993C>ACA380202470SLC35C1c.153C>A (p.Asp51Glu)
c.192C>A (p.Asp64Glu)
11g.45805993C=CA1968692810SLC35C1c.153C= (p.Asp51=)
c.192C= (p.Asp64=)
11g.45805993C>GCA380202471SLC35C1c.153C>G (p.Asp51Glu)
c.192C>G (p.Asp64Glu)
ClinVar dbSNP gnomAD v4
11g.45805993C>TCA474036533SLC35C1c.153C>T (p.Asp51=)
c.192C>T (p.Asp64=)
dbSNP gnomAD v2
11g.45805994A=CA1968692814SLC35C1c.154A= (p.Ser52=)
c.193A= (p.Ser65=)
11g.45805994A>CCA380202472SLC35C1c.154A>C (p.Ser52Arg)
c.193A>C (p.Ser65Arg)
dbSNP
11g.45805994A>GCA380202473SLC35C1c.154A>G (p.Ser52Gly)
c.193A>G (p.Ser65Gly)
11g.45805994A>TCA380202474SLC35C1c.154A>T (p.Ser52Cys)
c.193A>T (p.Ser65Cys)
gnomAD v4
11g.45805995G>ACA380202475SLC35C1c.155G>A (p.Ser52Asn)
c.194G>A (p.Ser65Asn)
COSMIC
11g.45805995G>CCA380202476SLC35C1c.155G>C (p.Ser52Thr)
c.194G>C (p.Ser65Thr)
gnomAD v4
11g.45805995G>TCA380202477SLC35C1c.155G>T (p.Ser52Ile)
c.194G>T (p.Ser65Ile)
11g.45805995_45806016delinsGCCCCTCCCTGCGGCTGGACACCA1968692820SLC35C1c.155_176delinsGCCCCTCCCTGCGGCTGGACAC (p.Ser52=)
c.194_215delinsGCCCCTCCCTGCGGCTGGACAC (p.Ser65=)
11g.45805996C>ACA380202478SLC35C1c.156C>A (p.Ser52Arg)
c.195C>A (p.Ser65Arg)
11g.45805996C>GCA380202479SLC35C1c.156C>G (p.Ser52Arg)
c.195C>G (p.Ser65Arg)
11g.45805996C>TCA474036534SLC35C1c.156C>T (p.Ser52=)
c.195C>T (p.Ser65=)
11g.45806000_45806020delCA221585079SLC35C1c.160_180del (p.Ser54_Pro60del)
c.199_219del (p.Ser67_Pro73del)
dbSNP gnomAD v4
11g.45805997C>ACA380202480SLC35C1c.157C>A (p.Pro53Thr)
c.196C>A (p.Pro66Thr)
11g.45805997C>GCA380202481SLC35C1c.157C>G (p.Pro53Ala)
c.196C>G (p.Pro66Ala)
11g.45805997C>TCA380202482SLC35C1c.157C>T (p.Pro53Ser)
c.196C>T (p.Pro66Ser)
gnomAD v4
11g.45805998C>ACA380202485SLC35C1c.158C>A (p.Pro53His)
c.197C>A (p.Pro66His)
11g.45805998C=CA1968692823SLC35C1c.158C= (p.Pro53=)
c.197C= (p.Pro66=)
11g.45805998C>GCA380202483SLC35C1c.158C>G (p.Pro53Arg)
c.197C>G (p.Pro66Arg)
11g.45805998C>TCA380202484SLC35C1c.158C>T (p.Pro53Leu)
c.197C>T (p.Pro66Leu)
dbSNP gnomAD v4
11g.45805999C>ACA474036536SLC35C1c.159C>A (p.Pro53=)
c.198C>A (p.Pro66=)
11g.45805999C=CA1968692828SLC35C1c.159C= (p.Pro53=)
c.198C= (p.Pro66=)
11g.45805999C>GCA474036537SLC35C1c.159C>G (p.Pro53=)
c.198C>G (p.Pro66=)
dbSNP
11g.45805999C>TCA474036538SLC35C1c.159C>T (p.Pro53=)
c.198C>T (p.Pro66=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.45806000T>ACA380202486SLC35C1c.160T>A (p.Ser54Thr)
c.199T>A (p.Ser67Thr)
11g.45806000T>CCA380202487SLC35C1c.160T>C (p.Ser54Pro)
c.199T>C (p.Ser67Pro)
11g.45806000T>GCA380202488SLC35C1c.160T>G (p.Ser54Ala)
c.199T>G (p.Ser67Ala)
gnomAD v4
11g.45806001C>ACA380202489SLC35C1c.161C>A (p.Ser54Tyr)
c.200C>A (p.Ser67Tyr)
11g.45806001C=CA1968692833SLC35C1c.161C= (p.Ser54=)
c.200C= (p.Ser67=)
11g.45806001C>GCA221585081SLC35C1c.161C>G (p.Ser54Cys)
c.200C>G (p.Ser67Cys)
dbSNP gnomAD v3 gnomAD v4
11g.45806001C>TCA221585083SLC35C1c.161C>T (p.Ser54Phe)
c.200C>T (p.Ser67Phe)
ClinVar dbSNP gnomAD v4
11g.45806003dupCA2613258204SLC35C1c.163dup (p.Leu55ProfsTer?)
c.202dup (p.Leu68ProfsTer?)
gnomAD v4
11g.45806002C>ACA474036542SLC35C1c.162C>A (p.Ser54=)
c.201C>A (p.Ser67=)
11g.45806002C>GCA474036543SLC35C1c.162C>G (p.Ser54=)
c.201C>G (p.Ser67=)
11g.45806002C>TCA474036544SLC35C1c.162C>T (p.Ser54=)
c.201C>T (p.Ser67=)
11g.45806003C>ACA380202490SLC35C1c.163C>A (p.Leu55Met)
c.202C>A (p.Leu68Met)
11g.45806003C=CA1968692842SLC35C1c.163C= (p.Leu55=)
c.202C= (p.Leu68=)
11g.45806003C>GCA221585087SLC35C1c.163C>G (p.Leu55Val)
c.202C>G (p.Leu68Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45806003C>TCA474036545SLC35C1c.163C>T (p.Leu55=)
c.202C>T (p.Leu68=)
gnomAD v4
11g.45806004T>ACA380202491SLC35C1c.164T>A (p.Leu55Gln)
c.203T>A (p.Leu68Gln)
11g.45806004T>CCA380202492SLC35C1c.164T>C (p.Leu55Pro)
c.203T>C (p.Leu68Pro)
11g.45806004T>GCA380202493SLC35C1c.164T>G (p.Leu55Arg)
c.203T>G (p.Leu68Arg)
11g.45806005G>ACA474036547SLC35C1c.165G>A (p.Leu55=)
c.204G>A (p.Leu68=)
ClinVar dbSNP
11g.45806005G>CCA474036549SLC35C1c.165G>C (p.Leu55=)
c.204G>C (p.Leu68=)
11g.45806005G=CA1968692848SLC35C1c.165G= (p.Leu55=)
c.204G= (p.Leu68=)
11g.45806005G>TCA474036551SLC35C1c.165G>T (p.Leu55=)
c.204G>T (p.Leu68=)
11g.45806006delCA2613258205SLC35C1c.166del (p.Arg56GlyfsTer15)
c.205del (p.Arg69GlyfsTer15)
gnomAD v4
11g.45806006C>ACA474036552SLC35C1c.166C>A (p.Arg56=)
c.205C>A (p.Arg69=)
11g.45806006C=CA1968692852SLC35C1c.166C= (p.Arg56=)
c.205C= (p.Arg69=)
11g.45806006C>GCA380202494SLC35C1c.166C>G (p.Arg56Gly)
c.205C>G (p.Arg69Gly)
11g.45806006C>TCA221585091SLC35C1c.166C>T (p.Arg56Trp)
c.205C>T (p.Arg69Trp)
dbSNP gnomAD v3 gnomAD v4
11g.45806007G>ACA5958200SLC35C1c.167G>A (p.Arg56Gln)
c.206G>A (p.Arg69Gln)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.45806007G>CCA380202495SLC35C1c.167G>C (p.Arg56Pro)
c.206G>C (p.Arg69Pro)
11g.45806007G=CA1968692858SLC35C1c.167G= (p.Arg56=)
c.206G= (p.Arg69=)
11g.45806007G>TCA380202496SLC35C1c.167G>T (p.Arg56Leu)
c.206G>T (p.Arg69Leu)
dbSNP gnomAD v2 gnomAD v4
11g.45806008G>ACA5958201SLC35C1c.168G>A (p.Arg56=)
c.207G>A (p.Arg69=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806008G>CCA474036553SLC35C1c.168G>C (p.Arg56=)
c.207G>C (p.Arg69=)
11g.45806008G=CA1968692863SLC35C1c.168G= (p.Arg56=)
c.207G= (p.Arg69=)
11g.45806008G>TCA474036554SLC35C1c.168G>T (p.Arg56=)
c.207G>T (p.Arg69=)
gnomAD v4
11g.45806009C>ACA380202497SLC35C1c.169C>A (p.Leu57Met)
c.208C>A (p.Leu70Met)
11g.45806009C=CA1968692867SLC35C1c.169C= (p.Leu57=)
c.208C= (p.Leu70=)
11g.45806009C>GCA5958202SLC35C1c.169C>G (p.Leu57Val)
c.208C>G (p.Leu70Val)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806009C>TCA474036557SLC35C1c.169C>T (p.Leu57=)
c.208C>T (p.Leu70=)
11g.45806010T>ACA380202498SLC35C1c.170T>A (p.Leu57Gln)
c.209T>A (p.Leu70Gln)
11g.45806010T>CCA380202499SLC35C1c.170T>C (p.Leu57Pro)
c.209T>C (p.Leu70Pro)
11g.45806010T>GCA380202500SLC35C1c.170T>G (p.Leu57Arg)
c.209T>G (p.Leu70Arg)
ClinVar gnomAD v4
11g.45806011G>ACA221585108SLC35C1c.171G>A (p.Leu57=)
c.210G>A (p.Leu70=)
dbSNP
11g.45806011G>CCA474036559SLC35C1c.171G>C (p.Leu57=)
c.210G>C (p.Leu70=)
11g.45806011G=CA1968692873SLC35C1c.171G= (p.Leu57=)
c.210G= (p.Leu70=)
11g.45806011G>TCA474036560SLC35C1c.171G>T (p.Leu57=)
c.210G>T (p.Leu70=)
11g.45806012G>ACA380202501SLC35C1c.172G>A (p.Asp58Asn)
c.211G>A (p.Asp71Asn)
gnomAD v4
11g.45806012G>CCA380202502SLC35C1c.172G>C (p.Asp58His)
c.211G>C (p.Asp71His)
11g.45806012G>TCA380202503SLC35C1c.172G>T (p.Asp58Tyr)
c.211G>T (p.Asp71Tyr)
11g.45806013A>CCA380202506SLC35C1c.173A>C (p.Asp58Ala)
c.212A>C (p.Asp71Ala)
11g.45806013A>GCA380202504SLC35C1c.173A>G (p.Asp58Gly)
c.212A>G (p.Asp71Gly)
11g.45806013A>TCA380202505SLC35C1c.173A>T (p.Asp58Val)
c.212A>T (p.Asp71Val)
11g.45806014C>ACA380202507SLC35C1c.174C>A (p.Asp58Glu)
c.213C>A (p.Asp71Glu)
11g.45806014C>GCA380202508SLC35C1c.174C>G (p.Asp58Glu)
c.213C>G (p.Asp71Glu)
gnomAD v4
11g.45806014C>TCA474036564SLC35C1c.174C>T (p.Asp58=)
c.213C>T (p.Asp71=)
11g.45806015A=CA1968692877SLC35C1c.175A= (p.Thr59=)
c.214A= (p.Thr72=)
11g.45806015A>CCA380202509SLC35C1c.175A>C (p.Thr59Pro)
c.214A>C (p.Thr72Pro)
dbSNP gnomAD v3 gnomAD v4
11g.45806015A>GCA380202510SLC35C1c.175A>G (p.Thr59Ala)
c.214A>G (p.Thr72Ala)
dbSNP gnomAD v2 gnomAD v4
11g.45806015A>TCA380202511SLC35C1c.175A>T (p.Thr59Ser)
c.214A>T (p.Thr72Ser)
11g.45806016C>ACA380202512SLC35C1c.176C>A (p.Thr59Asn)
c.215C>A (p.Thr72Asn)
11g.45806016C=CA1968692880SLC35C1c.176C= (p.Thr59=)
c.215C= (p.Thr72=)
11g.45806016C>GCA380202513SLC35C1c.176C>G (p.Thr59Ser)
c.215C>G (p.Thr72Ser)
dbSNP
11g.45806016C>TCA380202514SLC35C1c.176C>T (p.Thr59Ile)
c.215C>T (p.Thr72Ile)
11g.45806017C>ACA474036566SLC35C1c.177C>A (p.Thr59=)
c.216C>A (p.Thr72=)
11g.45806017C=CA1968692886SLC35C1c.177C= (p.Thr59=)
c.216C= (p.Thr72=)
11g.45806017C>GCA474036565SLC35C1c.177C>G (p.Thr59=)
c.216C>G (p.Thr72=)
dbSNP
11g.45806017C>TCA5958203SLC35C1c.177C>T (p.Thr59=)
c.216C>T (p.Thr72=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806018C>ACA380202515SLC35C1c.178C>A (p.Pro60Thr)
c.217C>A (p.Pro73Thr)
11g.45806018C>GCA380202516SLC35C1c.178C>G (p.Pro60Ala)
c.217C>G (p.Pro73Ala)
11g.45806018C>TCA380202517SLC35C1c.178C>T (p.Pro60Ser)
c.217C>T (p.Pro73Ser)
dbSNP gnomAD v4
11g.45806019C>ACA380202519SLC35C1c.179C>A (p.Pro60His)
c.218C>A (p.Pro73His)
11g.45806019C>GCA380202520SLC35C1c.179C>G (p.Pro60Arg)
c.218C>G (p.Pro73Arg)
gnomAD v4
11g.45806019C>TCA380202518SLC35C1c.179C>T (p.Pro60Leu)
c.218C>T (p.Pro73Leu)
11g.45806020C>ACA474036569SLC35C1c.180C>A (p.Pro60=)
c.219C>A (p.Pro73=)
11g.45806020C>GCA474036568SLC35C1c.180C>G (p.Pro60=)
c.219C>G (p.Pro73=)
11g.45806020C>TCA474036567SLC35C1c.180C>T (p.Pro60=)
c.219C>T (p.Pro73=)
11g.45806021A=CA1968692894SLC35C1c.181A= (p.Ile61=)
c.220A= (p.Ile74=)
11g.45806021A>CCA380202523SLC35C1c.181A>C (p.Ile61Leu)
c.220A>C (p.Ile74Leu)
11g.45806021A>GCA380202521SLC35C1c.181A>G (p.Ile61Val)
c.220A>G (p.Ile74Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45806021A>TCA380202522SLC35C1c.181A>T (p.Ile61Phe)
c.220A>T (p.Ile74Phe)
11g.45806022T>ACA380202524SLC35C1c.182T>A (p.Ile61Asn)
c.221T>A (p.Ile74Asn)
11g.45806022T>CCA380202525SLC35C1c.182T>C (p.Ile61Thr)
c.221T>C (p.Ile74Thr)
11g.45806022T>GCA380202526SLC35C1c.182T>G (p.Ile61Ser)
c.221T>G (p.Ile74Ser)
11g.45806022_45806031delinsTCTTCGTCACCA1968692899SLC35C1c.182_191delinsTCTTCGTCAC (p.Ile61=)
c.221_230delinsTCTTCGTCAC (p.Ile74=)
11g.45806023C>ACA474036571SLC35C1c.183C>A (p.Ile61=)
c.222C>A (p.Ile74=)
ClinVar
11g.45806023C>GCA380202527SLC35C1c.183C>G (p.Ile61Met)
c.222C>G (p.Ile74Met)
11g.45806023C>TCA474036570SLC35C1c.183C>T (p.Ile61=)
c.222C>T (p.Ile74=)
11g.45806027_45806035delCA5958204SLC35C1c.187_195del (p.Val63_Phe65del)
c.226_234del (p.Val76_Phe78del)
dbSNP ExAC
11g.45806024T>ACA5958205SLC35C1c.184T>A (p.Phe62Ile)
c.223T>A (p.Phe75Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806024T>CCA380202528SLC35C1c.184T>C (p.Phe62Leu)
c.223T>C (p.Phe75Leu)
gnomAD v4
11g.45806024T>GCA380202529SLC35C1c.184T>G (p.Phe62Val)
c.223T>G (p.Phe75Val)
dbSNP
11g.45806024T=CA1968692908SLC35C1c.184T= (p.Phe62=)
c.223T= (p.Phe75=)
11g.45806025T>ACA380202530SLC35C1c.185T>A (p.Phe62Tyr)
c.224T>A (p.Phe75Tyr)
11g.45806025T>CCA380202531SLC35C1c.185T>C (p.Phe62Ser)
c.224T>C (p.Phe75Ser)
11g.45806025T>GCA380202532SLC35C1c.185T>G (p.Phe62Cys)
c.224T>G (p.Phe75Cys)
11g.45806026C>ACA380202533SLC35C1c.186C>A (p.Phe62Leu)
c.225C>A (p.Phe75Leu)
11g.45806026C=CA1968692914SLC35C1c.186C= (p.Phe62=)
c.225C= (p.Phe75=)
11g.45806026C>GCA380202534SLC35C1c.186C>G (p.Phe62Leu)
c.225C>G (p.Phe75Leu)
11g.45806026C>TCA474036575SLC35C1c.186C>T (p.Phe62=)
c.225C>T (p.Phe75=)
dbSNP gnomAD v3 gnomAD v4
11g.45806027G>ACA5958206SLC35C1c.187G>A (p.Val63Ile)
c.226G>A (p.Val76Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45806027G>CCA380202535SLC35C1c.187G>C (p.Val63Leu)
c.226G>C (p.Val76Leu)
ClinVar dbSNP gnomAD v4
11g.45806027G=CA1968692919SLC35C1c.187G= (p.Val63=)
c.226G= (p.Val76=)
11g.45806027G>TCA380202536SLC35C1c.187G>T (p.Val63Phe)
c.226G>T (p.Val76Phe)
11g.45806028T>ACA380202537SLC35C1c.188T>A (p.Val63Asp)
c.227T>A (p.Val76Asp)
11g.45806028T>CCA380202538SLC35C1c.188T>C (p.Val63Ala)
c.227T>C (p.Val76Ala)
11g.45806028T>GCA380202539SLC35C1c.188T>G (p.Val63Gly)
c.227T>G (p.Val76Gly)
11g.45806029C>ACA474036576SLC35C1c.189C>A (p.Val63=)
c.228C>A (p.Val76=)
11g.45806029C>GCA474036577SLC35C1c.189C>G (p.Val63=)
c.228C>G (p.Val76=)
11g.45806029C>TCA474036578SLC35C1c.189C>T (p.Val63=)
c.228C>T (p.Val76=)
11g.45806030A=CA1968692924SLC35C1c.190A= (p.Thr64=)
c.229A= (p.Thr77=)
11g.45806030A>CCA380202540SLC35C1c.190A>C (p.Thr64Pro)
c.229A>C (p.Thr77Pro)
dbSNP
11g.45806030A>GCA380202541SLC35C1c.190A>G (p.Thr64Ala)
c.229A>G (p.Thr77Ala)
11g.45806030A>TCA380202542SLC35C1c.190A>T (p.Thr64Ser)
c.229A>T (p.Thr77Ser)
11g.45806031C>ACA380202543SLC35C1c.191C>A (p.Thr64Asn)
c.230C>A (p.Thr77Asn)
gnomAD v4
11g.45806031C=CA1968692929SLC35C1c.191C= (p.Thr64=)
c.230C= (p.Thr77=)
11g.45806031C>GCA380202544SLC35C1c.191C>G (p.Thr64Ser)
c.230C>G (p.Thr77Ser)
11g.45806031C>TCA380202545SLC35C1c.191C>T (p.Thr64Ile)
c.230C>T (p.Thr77Ile)
dbSNP gnomAD v4
11g.45806031_45806034delinsCCTTCA1968692930SLC35C1c.191_194delinsCCTT (p.Thr64=)
c.230_233delinsCCTT (p.Thr77=)
11g.45806032C>ACA474036581SLC35C1c.192C>A (p.Thr64=)
c.231C>A (p.Thr77=)
11g.45806032C=CA1968692934SLC35C1c.192C= (p.Thr64=)
c.231C= (p.Thr77=)
11g.45806032C>GCA474036582SLC35C1c.192C>G (p.Thr64=)
c.231C>G (p.Thr77=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.45806032C>TCA474036583SLC35C1c.192C>T (p.Thr64=)
c.231C>T (p.Thr77=)
11g.45806034_45806036delCA1968692933SLC35C1c.194_196del (p.Phe65del)
c.233_235del (p.Phe78del)
dbSNP gnomAD v4
11g.45806033T>ACA380202548SLC35C1c.193T>A (p.Phe65Ile)
c.232T>A (p.Phe78Ile)
11g.45806033T>CCA380202549SLC35C1c.193T>C (p.Phe65Leu)
c.232T>C (p.Phe78Leu)
dbSNP gnomAD v2 gnomAD v4
11g.45806033T>GCA380202547SLC35C1c.193T>G (p.Phe65Val)
c.232T>G (p.Phe78Val)
COSMIC
11g.45806033T=CA1968692940SLC35C1c.193T= (p.Phe65=)
c.232T= (p.Phe78=)
11g.45806034T>ACA380202550SLC35C1c.194T>A (p.Phe65Tyr)
c.233T>A (p.Phe78Tyr)
11g.45806034T>CCA380202551SLC35C1c.194T>C (p.Phe65Ser)
c.233T>C (p.Phe78Ser)
11g.45806034T>GCA5958207SLC35C1c.194T>G (p.Phe65Cys)
c.233T>G (p.Phe78Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45806034T=CA1968692942SLC35C1c.194T= (p.Phe65=)
c.233T= (p.Phe78=)
11g.45806035C>ACA380202552SLC35C1c.195C>A (p.Phe65Leu)
c.234C>A (p.Phe78Leu)
11g.45806035C=CA1968692945SLC35C1c.195C= (p.Phe65=)
c.234C= (p.Phe78=)
11g.45806035C>GCA380202553SLC35C1c.195C>G (p.Phe65Leu)
c.234C>G (p.Phe78Leu)
11g.45806035C>TCA474036585SLC35C1c.195C>T (p.Phe65=)
c.234C>T (p.Phe78=)
dbSNP gnomAD v2 gnomAD v4
11g.45806036T>ACA380202556SLC35C1c.196T>A (p.Tyr66Asn)
c.235T>A (p.Tyr79Asn)
11g.45806036T>CCA380202555SLC35C1c.196T>C (p.Tyr66His)
c.235T>C (p.Tyr79His)
gnomAD v4
11g.45806036T>GCA380202554SLC35C1c.196T>G (p.Tyr66Asp)
c.235T>G (p.Tyr79Asp)
11g.45806037A>CCA380202557SLC35C1c.197A>C (p.Tyr66Ser)
c.236A>C (p.Tyr79Ser)
11g.45806037A>GCA380202558SLC35C1c.197A>G (p.Tyr66Cys)
c.236A>G (p.Tyr79Cys)
11g.45806037A>TCA380202559SLC35C1c.197A>T (p.Tyr66Phe)
c.236A>T (p.Tyr79Phe)
11g.45806038C>ACA380202560SLC35C1c.198C>A (p.Tyr66Ter)
c.237C>A (p.Tyr79Ter)
11g.45806038C=CA1968692948SLC35C1c.198C= (p.Tyr66=)
c.237C= (p.Tyr79=)
11g.45806038C>GCA380202561SLC35C1c.198C>G (p.Tyr66Ter)
c.237C>G (p.Tyr79Ter)
11g.45806038C>TCA5958208SLC35C1c.198C>T (p.Tyr66=)
c.237C>T (p.Tyr79=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806039C>ACA380202562SLC35C1c.199C>A (p.Gln67Lys)
c.238C>A (p.Gln80Lys)
11g.45806039C>GCA380202564SLC35C1c.199C>G (p.Gln67Glu)
c.238C>G (p.Gln80Glu)
11g.45806039C>TCA380202563SLC35C1c.199C>T (p.Gln67Ter)
c.238C>T (p.Gln80Ter)
11g.45806040A>CCA380202565SLC35C1c.200A>C (p.Gln67Pro)
c.239A>C (p.Gln80Pro)
11g.45806040A>GCA380202566SLC35C1c.200A>G (p.Gln67Arg)
c.239A>G (p.Gln80Arg)
gnomAD v4
11g.45806040A>TCA380202567SLC35C1c.200A>T (p.Gln67Leu)
c.239A>T (p.Gln80Leu)
11g.45806041G>ACA474036588SLC35C1c.201G>A (p.Gln67=)
c.240G>A (p.Gln80=)
11g.45806041G>CCA380202568SLC35C1c.201G>C (p.Gln67His)
c.240G>C (p.Gln80His)
11g.45806041G>TCA380202569SLC35C1c.201G>T (p.Gln67His)
c.240G>T (p.Gln80His)
11g.45806042T>ACA380202570SLC35C1c.202T>A (p.Cys68Ser)
c.241T>A (p.Cys81Ser)
11g.45806042T>CCA380202571SLC35C1c.202T>C (p.Cys68Arg)
c.241T>C (p.Cys81Arg)
11g.45806042T>GCA380202572SLC35C1c.202T>G (p.Cys68Gly)
c.241T>G (p.Cys81Gly)
11g.45806043G>ACA380202573SLC35C1c.203G>A (p.Cys68Tyr)
c.242G>A (p.Cys81Tyr)
11g.45806043G>CCA380202574SLC35C1c.203G>C (p.Cys68Ser)
c.242G>C (p.Cys81Ser)
11g.45806043G>TCA380202575SLC35C1c.203G>T (p.Cys68Phe)
c.242G>T (p.Cys81Phe)
11g.45806044C>ACA380202576SLC35C1c.204C>A (p.Cys68Ter)
c.243C>A (p.Cys81Ter)
11g.45806044C>GCA380202577SLC35C1c.204C>G (p.Cys68Trp)
c.243C>G (p.Cys81Trp)
11g.45806044C>TCA474036592SLC35C1c.204C>T (p.Cys68=)
c.243C>T (p.Cys81=)
gnomAD v4
11g.45806045C>ACA380202579SLC35C1c.205C>A (p.Leu69Met)
c.244C>A (p.Leu82Met)
11g.45806045C>GCA380202578SLC35C1c.205C>G (p.Leu69Val)
c.244C>G (p.Leu82Val)
11g.45806045C>TCA474036593SLC35C1c.205C>T (p.Leu69=)
c.244C>T (p.Leu82=)
11g.45806046T>ACA380202580SLC35C1c.206T>A (p.Leu69Gln)
c.245T>A (p.Leu82Gln)
11g.45806046T>CCA380202581SLC35C1c.206T>C (p.Leu69Pro)
c.245T>C (p.Leu82Pro)
11g.45806046T>GCA5958209SLC35C1c.206T>G (p.Leu69Arg)
c.245T>G (p.Leu82Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45806046T=CA1968692951SLC35C1c.206T= (p.Leu69=)
c.245T= (p.Leu82=)
11g.45806048_45806050delCA2613258206SLC35C1c.208_210del (p.Val70del)
c.247_249del (p.Val83del)
gnomAD v4
11g.45806047G>ACA474036594SLC35C1c.207G>A (p.Leu69=)
c.246G>A (p.Leu82=)
gnomAD v4
11g.45806047G>CCA474036595SLC35C1c.207G>C (p.Leu69=)
c.246G>C (p.Leu82=)
11g.45806047G>TCA474036596SLC35C1c.207G>T (p.Leu69=)
c.246G>T (p.Leu82=)
11g.45806048G>ACA380202582SLC35C1c.208G>A (p.Val70Met)
c.247G>A (p.Val83Met)
11g.45806048G>CCA380202583SLC35C1c.208G>C (p.Val70Leu)
c.247G>C (p.Val83Leu)
11g.45806048G>TCA380202584SLC35C1c.208G>T (p.Val70Leu)
c.247G>T (p.Val83Leu)
11g.45806049T>ACA380202587SLC35C1c.209T>A (p.Val70Glu)
c.248T>A (p.Val83Glu)
11g.45806049T>CCA380202586SLC35C1c.209T>C (p.Val70Ala)
c.248T>C (p.Val83Ala)
11g.45806049T>GCA380202585SLC35C1c.209T>G (p.Val70Gly)
c.248T>G (p.Val83Gly)
11g.45806050G>ACA474036597SLC35C1c.210G>A (p.Val70=)
c.249G>A (p.Val83=)
11g.45806050G>CCA474036598SLC35C1c.210G>C (p.Val70=)
c.249G>C (p.Val83=)
11g.45806050G>TCA474036599SLC35C1c.210G>T (p.Val70=)
c.249G>T (p.Val83=)
11g.45806051A=CA1968692954SLC35C1c.211A= (p.Thr71=)
c.250A= (p.Thr84=)
11g.45806051A>CCA380202588SLC35C1c.211A>C (p.Thr71Pro)
c.250A>C (p.Thr84Pro)
11g.45806051A>GCA380202589SLC35C1c.211A>G (p.Thr71Ala)
c.250A>G (p.Thr84Ala)
COSMIC
11g.45806051A>TCA380202590SLC35C1c.211A>T (p.Thr71Ser)
c.250A>T (p.Thr84Ser)
dbSNP gnomAD v2
11g.45806052C>ACA380202591SLC35C1c.212C>A (p.Thr71Asn)
c.251C>A (p.Thr84Asn)
dbSNP gnomAD v3 gnomAD v4
11g.45806052C=CA1968692957SLC35C1c.212C= (p.Thr71=)
c.251C= (p.Thr84=)
11g.45806052C>GCA380202592SLC35C1c.212C>G (p.Thr71Ser)
c.251C>G (p.Thr84Ser)
11g.45806052C>TCA380202593SLC35C1c.212C>T (p.Thr71Ile)
c.251C>T (p.Thr84Ile)
11g.45806053C>ACA474036602SLC35C1c.213C>A (p.Thr71=)
c.252C>A (p.Thr84=)
11g.45806053C>GCA474036603SLC35C1c.213C>G (p.Thr71=)
c.252C>G (p.Thr84=)
11g.45806053C>TCA474036604SLC35C1c.213C>T (p.Thr71=)
c.252C>T (p.Thr84=)
11g.45806054A>CCA380202596SLC35C1c.214A>C (p.Thr72Pro)
c.253A>C (p.Thr85Pro)
gnomAD v4
11g.45806054A>GCA380202594SLC35C1c.214A>G (p.Thr72Ala)
c.253A>G (p.Thr85Ala)
11g.45806054A>TCA380202595SLC35C1c.214A>T (p.Thr72Ser)
c.253A>T (p.Thr85Ser)
11g.45806055C>ACA380202597SLC35C1c.215C>A (p.Thr72Lys)
c.254C>A (p.Thr85Lys)
11g.45806055C=CA1968692962SLC35C1c.215C= (p.Thr72=)
c.254C= (p.Thr85=)
11g.45806055C>GCA380202598SLC35C1c.215C>G (p.Thr72Arg)
c.254C>G (p.Thr85Arg)
11g.45806055C>TCA5958210SLC35C1c.215C>T (p.Thr72Met)
c.254C>T (p.Thr85Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45806056G>ACA5958211SLC35C1c.216G>A (p.Thr72=)
c.255G>A (p.Thr85=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45806056G>CCA474036606SLC35C1c.216G>C (p.Thr72=)
c.255G>C (p.Thr85=)
gnomAD v4
11g.45806056G=CA1968692968SLC35C1c.216G= (p.Thr72=)
c.255G= (p.Thr85=)
11g.45806056G>TCA474036607SLC35C1c.216G>T (p.Thr72=)
c.255G>T (p.Thr85=)
ClinVar dbSNP gnomAD v2
11g.45806057C>ACA380202599SLC35C1c.217C>A (p.Leu73Met)
c.256C>A (p.Leu86Met)
11g.45806057C>GCA380202600SLC35C1c.217C>G (p.Leu73Val)
c.256C>G (p.Leu86Val)
11g.45806057C>TCA474036609SLC35C1c.217C>T (p.Leu73=)
c.256C>T (p.Leu86=)
11g.45806058T>ACA380202603SLC35C1c.218T>A (p.Leu73Gln)
c.257T>A (p.Leu86Gln)
11g.45806058T>CCA380202601SLC35C1c.218T>C (p.Leu73Pro)
c.257T>C (p.Leu86Pro)
11g.45806058T>GCA380202602SLC35C1c.218T>G (p.Leu73Arg)
c.257T>G (p.Leu86Arg)
11g.45806059G>ACA474036472SLC35C1c.219G>A (p.Leu73=)
c.258G>A (p.Leu86=)
ClinVar
11g.45806059G>CCA474036476SLC35C1c.219G>C (p.Leu73=)
c.258G>C (p.Leu86=)
11g.45806059G>TCA474036471SLC35C1c.219G>T (p.Leu73=)
c.258G>T (p.Leu86=)
11g.45806060C>ACA380202604SLC35C1c.220C>A (p.Leu74Met)
c.259C>A (p.Leu87Met)
11g.45806060C=CA1968692976SLC35C1c.220C= (p.Leu74=)
c.259C= (p.Leu87=)
11g.45806060C>GCA380202605SLC35C1c.220C>G (p.Leu74Val)
c.259C>G (p.Leu87Val)
11g.45806060C>TCA474036479SLC35C1c.220C>T (p.Leu74=)
c.259C>T (p.Leu87=)
dbSNP gnomAD v2
11g.45806061T>ACA380202606SLC35C1c.221T>A (p.Leu74Gln)
c.260T>A (p.Leu87Gln)
11g.45806061T>CCA380202607SLC35C1c.221T>C (p.Leu74Pro)
c.260T>C (p.Leu87Pro)
ClinVar dbSNP
11g.45806061T>GCA380202608SLC35C1c.221T>G (p.Leu74Arg)
c.260T>G (p.Leu87Arg)
11g.45806062G>ACA474036485SLC35C1c.222G>A (p.Leu74=)
c.261G>A (p.Leu87=)
dbSNP gnomAD v2 gnomAD v4
11g.45806062G>CCA474036483SLC35C1c.222G>C (p.Leu74=)
c.261G>C (p.Leu87=)
11g.45806062G=CA1968692981SLC35C1c.222G= (p.Leu74=)
c.261G= (p.Leu87=)
11g.45806062G>TCA474036484SLC35C1c.222G>T (p.Leu74=)
c.261G>T (p.Leu87=)
11g.45806063T>ACA380202609SLC35C1c.223T>A (p.Cys75Ser)
c.262T>A (p.Cys88Ser)
11g.45806063T>CCA380202611SLC35C1c.223T>C (p.Cys75Arg)
c.262T>C (p.Cys88Arg)
gnomAD v4
11g.45806063T>GCA380202610SLC35C1c.223T>G (p.Cys75Gly)
c.262T>G (p.Cys88Gly)
dbSNP gnomAD v3 gnomAD v4
11g.45806063T=CA1968692986SLC35C1c.223T= (p.Cys75=)
c.262T= (p.Cys88=)
11g.45806064G>ACA380202612SLC35C1c.224G>A (p.Cys75Tyr)
c.263G>A (p.Cys88Tyr)
gnomAD v4
11g.45806064G>CCA380202613SLC35C1c.224G>C (p.Cys75Ser)
c.263G>C (p.Cys88Ser)
11g.45806064G=CA1968692987SLC35C1c.224G= (p.Cys75=)
c.263G= (p.Cys88=)
11g.45806064G>TCA380202614SLC35C1c.224G>T (p.Cys75Phe)
c.263G>T (p.Cys88Phe)
dbSNP gnomAD v2 gnomAD v4
11g.45806065C>ACA380202615SLC35C1c.225C>A (p.Cys75Ter)
c.264C>A (p.Cys88Ter)
11g.45806065C>GCA380202616SLC35C1c.225C>G (p.Cys75Trp)
c.264C>G (p.Cys88Trp)
11g.45806065C>TCA474036488SLC35C1c.225C>T (p.Cys75=)
c.264C>T (p.Cys88=)
11g.45806066A>CCA380202617SLC35C1c.226A>C (p.Lys76Gln)
c.265A>C (p.Lys89Gln)
11g.45806066A>GCA380202618SLC35C1c.226A>G (p.Lys76Glu)
c.265A>G (p.Lys89Glu)
gnomAD v4
11g.45806066A>TCA380202619SLC35C1c.226A>T (p.Lys76Ter)
c.265A>T (p.Lys89Ter)
11g.45806068delCA2695213701SLC35C1c.228del (p.Gly77AlafsTer?)
c.267del (p.Gly90AlafsTer?)
11g.45806067A>CCA380202620SLC35C1c.227A>C (p.Lys76Thr)
c.266A>C (p.Lys89Thr)
11g.45806067A>GCA380202621SLC35C1c.227A>G (p.Lys76Arg)
c.266A>G (p.Lys89Arg)
11g.45806067A>TCA380202622SLC35C1c.227A>T (p.Lys76Ile)
c.266A>T (p.Lys89Ile)
11g.45806068A>CCA380202623SLC35C1c.228A>C (p.Lys76Asn)
c.267A>C (p.Lys89Asn)
11g.45806068A>GCA474036493SLC35C1c.228A>G (p.Lys76=)
c.267A>G (p.Lys89=)
11g.45806068A>TCA380202624SLC35C1c.228A>T (p.Lys76Asn)
c.267A>T (p.Lys89Asn)
11g.45806069G>ACA380202627SLC35C1c.229G>A (p.Gly77Ser)
c.268G>A (p.Gly90Ser)
11g.45806069G>CCA380202625SLC35C1c.229G>C (p.Gly77Arg)
c.268G>C (p.Gly90Arg)
11g.45806069G>TCA380202626SLC35C1c.229G>T (p.Gly77Cys)
c.268G>T (p.Gly90Cys)
11g.45806070G>ACA380202628SLC35C1c.230G>A (p.Gly77Asp)
c.269G>A (p.Gly90Asp)
gnomAD v4
11g.45806070G>CCA380202629SLC35C1c.230G>C (p.Gly77Ala)
c.269G>C (p.Gly90Ala)
11g.45806070G=CA1968692988SLC35C1c.230G= (p.Gly77=)
c.269G= (p.Gly90=)
11g.45806070G>TCA380202630SLC35C1c.230G>T (p.Gly77Val)
c.269G>T (p.Gly90Val)
dbSNP gnomAD v4
11g.45806071C>ACA474036497SLC35C1c.231C>A (p.Gly77=)
c.270C>A (p.Gly90=)
11g.45806071C=CA1968692989SLC35C1c.231C= (p.Gly77=)
c.270C= (p.Gly90=)
11g.45806071C>GCA474036498SLC35C1c.231C>G (p.Gly77=)
c.270C>G (p.Gly90=)
11g.45806071C>TCA474036500SLC35C1c.231C>T (p.Gly77=)
c.270C>T (p.Gly90=)
dbSNP
11g.45806072C>ACA380202631SLC35C1c.232C>A (p.Leu78Ile)
c.271C>A (p.Leu91Ile)
11g.45806072C=CA1968692990SLC35C1c.232C= (p.Leu78=)
c.271C= (p.Leu91=)
11g.45806072C>GCA380202632SLC35C1c.232C>G (p.Leu78Val)
c.271C>G (p.Leu91Val)
11g.45806072C>TCA380202633SLC35C1c.232C>T (p.Leu78Phe)
c.271C>T (p.Leu91Phe)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.45806073T>ACA380202634SLC35C1c.233T>A (p.Leu78His)
c.272T>A (p.Leu91His)
11g.45806073T>CCA380202635SLC35C1c.233T>C (p.Leu78Pro)
c.272T>C (p.Leu91Pro)
11g.45806073T>GCA380202636SLC35C1c.233T>G (p.Leu78Arg)
c.272T>G (p.Leu91Arg)
11g.45806074C>ACA474036501SLC35C1c.234C>A (p.Leu78=)
c.273C>A (p.Leu91=)
11g.45806074C=CA1968692991SLC35C1c.234C= (p.Leu78=)
c.273C= (p.Leu91=)
11g.45806074C>GCA474036502SLC35C1c.234C>G (p.Leu78=)
c.273C>G (p.Leu91=)
11g.45806074C>TCA221585156SLC35C1c.234C>T (p.Leu78=)
c.273C>T (p.Leu91=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45806075A=CA1968692992SLC35C1c.235A= (p.Ser79=)
c.274A= (p.Ser92=)
11g.45806075A>CCA380202637SLC35C1c.235A>C (p.Ser79Arg)
c.274A>C (p.Ser92Arg)
11g.45806075A>GCA380202638SLC35C1c.235A>G (p.Ser79Gly)
c.274A>G (p.Ser92Gly)
dbSNP
11g.45806075A>TCA380202639SLC35C1c.235A>T (p.Ser79Cys)
c.274A>T (p.Ser92Cys)
11g.45806076G>ACA380202640SLC35C1c.236G>A (p.Ser79Asn)
c.275G>A (p.Ser92Asn)
COSMIC
11g.45806076G>CCA380202642SLC35C1c.236G>C (p.Ser79Thr)
c.275G>C (p.Ser92Thr)
11g.45806076G>TCA380202641SLC35C1c.236G>T (p.Ser79Ile)
c.275G>T (p.Ser92Ile)
gnomAD v4
11g.45806077C>ACA380202643SLC35C1c.237C>A (p.Ser79Arg)
c.276C>A (p.Ser92Arg)
11g.45806077C=CA1968692993SLC35C1c.237C= (p.Ser79=)
c.276C= (p.Ser92=)
11g.45806077C>GCA380202644SLC35C1c.237C>G (p.Ser79Arg)
c.276C>G (p.Ser92Arg)
11g.45806077C>TCA5958212SLC35C1c.237C>T (p.Ser79=)
c.276C>T (p.Ser92=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806078G>ACA5958213SLC35C1c.238G>A (p.Ala80Thr)
c.277G>A (p.Ala93Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806078G>CCA380202645SLC35C1c.238G>C (p.Ala80Pro)
c.277G>C (p.Ala93Pro)
dbSNP
11g.45806078G=CA1968692994SLC35C1c.238G= (p.Ala80=)
c.277G= (p.Ala93=)
11g.45806078G>TCA380202646SLC35C1c.238G>T (p.Ala80Ser)
c.277G>T (p.Ala93Ser)
gnomAD v4
11g.45806079C>ACA380202647SLC35C1c.239C>A (p.Ala80Asp)
c.278C>A (p.Ala93Asp)
11g.45806079C>GCA380202648SLC35C1c.239C>G (p.Ala80Gly)
c.278C>G (p.Ala93Gly)
11g.45806079C>TCA380202649SLC35C1c.239C>T (p.Ala80Val)
c.278C>T (p.Ala93Val)
11g.45806080T>ACA474036511SLC35C1c.240T>A (p.Ala80=)
c.279T>A (p.Ala93=)
11g.45806080T>CCA474036510SLC35C1c.240T>C (p.Ala80=)
c.279T>C (p.Ala93=)
11g.45806080T>GCA474036508SLC35C1c.240T>G (p.Ala80=)
c.279T>G (p.Ala93=)
11g.45806081C>ACA380202650SLC35C1c.241C>A (p.Leu81Met)
c.280C>A (p.Leu94Met)
gnomAD v4
11g.45806081C>GCA380202651SLC35C1c.241C>G (p.Leu81Val)
c.280C>G (p.Leu94Val)
gnomAD v4
11g.45806081C>TCA474036512SLC35C1c.241C>T (p.Leu81=)
c.280C>T (p.Leu94=)
11g.45806082T>ACA380202652SLC35C1c.242T>A (p.Leu81Gln)
c.281T>A (p.Leu94Gln)
11g.45806082T>CCA380202653SLC35C1c.242T>C (p.Leu81Pro)
c.281T>C (p.Leu94Pro)
11g.45806082T>GCA380202654SLC35C1c.242T>G (p.Leu81Arg)
c.281T>G (p.Leu94Arg)
11g.45806083G>ACA474036514SLC35C1c.243G>A (p.Leu81=)
c.282G>A (p.Leu94=)
11g.45806083G>CCA474036515SLC35C1c.243G>C (p.Leu81=)
c.282G>C (p.Leu94=)
dbSNP
11g.45806083G=CA1968692995SLC35C1c.243G= (p.Leu81=)
c.282G= (p.Leu94=)
11g.45806083G>TCA474036516SLC35C1c.243G>T (p.Leu81=)
c.282G>T (p.Leu94=)
11g.45806084G>ACA380202657SLC35C1c.244G>A (p.Ala82Thr)
c.283G>A (p.Ala95Thr)
gnomAD v4
11g.45806084G>CCA380202656SLC35C1c.244G>C (p.Ala82Pro)
c.283G>C (p.Ala95Pro)
11g.45806084G>TCA380202655SLC35C1c.244G>T (p.Ala82Ser)
c.283G>T (p.Ala95Ser)
11g.45806085C>ACA380202658SLC35C1c.245C>A (p.Ala82Asp)
c.284C>A (p.Ala95Asp)
11g.45806085C>GCA380202659SLC35C1c.245C>G (p.Ala82Gly)
c.284C>G (p.Ala95Gly)
11g.45806085C>TCA380202660SLC35C1c.245C>T (p.Ala82Val)
c.284C>T (p.Ala95Val)
gnomAD v4
11g.45806086delCA2613258207SLC35C1c.246del (p.Ala83ProfsTer?)
c.285del (p.Ala96ProfsTer?)
gnomAD v4
11g.45806086C>ACA474036521SLC35C1c.246C>A (p.Ala82=)
c.285C>A (p.Ala95=)
gnomAD v4
11g.45806086C=CA1968692996SLC35C1c.246C= (p.Ala82=)
c.285C= (p.Ala95=)
11g.45806086C>GCA474036518SLC35C1c.246C>G (p.Ala82=)
c.285C>G (p.Ala95=)
11g.45806086C>TCA474036519SLC35C1c.246C>T (p.Ala82=)
c.285C>T (p.Ala95=)
dbSNP gnomAD v3 gnomAD v4
11g.45806087G>ACA380202661SLC35C1c.247G>A (p.Ala83Thr)
c.286G>A (p.Ala96Thr)
ClinVar dbSNP gnomAD v4
11g.45806087G>CCA380202662SLC35C1c.247G>C (p.Ala83Pro)
c.286G>C (p.Ala96Pro)
11g.45806087G=CA1968692997SLC35C1c.247G= (p.Ala83=)
c.286G= (p.Ala96=)
11g.45806087G>TCA380202663SLC35C1c.247G>T (p.Ala83Ser)
c.286G>T (p.Ala96Ser)
gnomAD v4
11g.45806088C>ACA380202664SLC35C1c.248C>A (p.Ala83Asp)
c.287C>A (p.Ala96Asp)
gnomAD v4
11g.45806088C=CA1968692998SLC35C1c.248C= (p.Ala83=)
c.287C= (p.Ala96=)
11g.45806088C>GCA380202665SLC35C1c.248C>G (p.Ala83Gly)
c.287C>G (p.Ala96Gly)
11g.45806088C>TCA380202666SLC35C1c.248C>T (p.Ala83Val)
c.287C>T (p.Ala96Val)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched