Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.45806027_45806035delCA5958204SLC35C1c.187_195del (p.Val63_Phe65del)
c.226_234del (p.Val76_Phe78del)
dbSNP ExAC
11g.45806031_45806034delinsCCTTCA1968692930SLC35C1c.191_194delinsCCTT (p.Thr64=)
c.230_233delinsCCTT (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
11g.45806089C>ACA474036525SLC35C1c.249C>A (p.Ala83=)
c.288C>A (p.Ala96=)
11g.45806089C=CA1968692999SLC35C1c.249C= (p.Ala83=)
c.288C= (p.Ala96=)
11g.45806089C>GCA474036526SLC35C1c.249C>G (p.Ala83=)
c.288C>G (p.Ala96=)
11g.45806089C>TCA474036527SLC35C1c.249C>T (p.Ala83=)
c.288C>T (p.Ala96=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45806090T>ACA380202667SLC35C1c.250T>A (p.Cys84Ser)
c.289T>A (p.Cys97Ser)
11g.45806090T>CCA380202668SLC35C1c.250T>C (p.Cys84Arg)
c.289T>C (p.Cys97Arg)
COSMIC
11g.45806090T>GCA380202669SLC35C1c.250T>G (p.Cys84Gly)
c.289T>G (p.Cys97Gly)
11g.45806090T=CA1968693000SLC35C1c.250T= (p.Cys84=)
c.289T= (p.Cys97=)
11g.45806091G>ACA380202672SLC35C1c.251G>A (p.Cys84Tyr)
c.290G>A (p.Cys97Tyr)
gnomAD v4
11g.45806091G>CCA380202671SLC35C1c.251G>C (p.Cys84Ser)
c.290G>C (p.Cys97Ser)
11g.45806091G>TCA380202670SLC35C1c.251G>T (p.Cys84Phe)
c.290G>T (p.Cys97Phe)
gnomAD v4
11g.45806091dupCA599370744SLC35C1c.251dup (p.Cys84TrpfsTer?)
c.290dup (p.Cys97TrpfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45806092C>ACA380202673SLC35C1c.252C>A (p.Cys84Ter)
c.291C>A (p.Cys97Ter)
gnomAD v4
11g.45806092C=CA1968693001SLC35C1c.252C= (p.Cys84=)
c.291C= (p.Cys97=)
11g.45806092C>GCA380202674SLC35C1c.252C>G (p.Cys84Trp)
c.291C>G (p.Cys97Trp)
11g.45806092C>TCA474036532SLC35C1c.252C>T (p.Cys84=)
c.291C>T (p.Cys97=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45806093T>ACA380202675SLC35C1c.253T>A (p.Cys85Ser)
c.292T>A (p.Cys98Ser)
11g.45806093T>CCA380202676SLC35C1c.253T>C (p.Cys85Arg)
c.292T>C (p.Cys98Arg)
gnomAD v4
11g.45806093T>GCA380202677SLC35C1c.253T>G (p.Cys85Gly)
c.292T>G (p.Cys98Gly)
11g.45806094G>ACA221585178SLC35C1c.254G>A (p.Cys85Tyr)
c.293G>A (p.Cys98Tyr)
dbSNP gnomAD v4
11g.45806094G>CCA380202678SLC35C1c.254G>C (p.Cys85Ser)
c.293G>C (p.Cys98Ser)
11g.45806094G=CA1968693002SLC35C1c.254G= (p.Cys85=)
c.293G= (p.Cys98=)
11g.45806094G>TCA380202679SLC35C1c.254G>T (p.Cys85Phe)
c.293G>T (p.Cys98Phe)
gnomAD v4
11g.45806095C>ACA380202680SLC35C1c.255C>A (p.Cys85Ter)
c.294C>A (p.Cys98Ter)
11g.45806095C=CA1968693003SLC35C1c.255C= (p.Cys85=)
c.294C= (p.Cys98=)
11g.45806095C>GCA380202681SLC35C1c.255C>G (p.Cys85Trp)
c.294C>G (p.Cys98Trp)
11g.45806095C>TCA474036535SLC35C1c.255C>T (p.Cys85=)
c.294C>T (p.Cys98=)
dbSNP gnomAD v2 gnomAD v4
11g.45806097delCA2791288787SLC35C1c.257del (p.Pro86LeufsTer29)
c.296del (p.Pro99LeufsTer29)
11g.45806096C>ACA380202682SLC35C1c.256C>A (p.Pro86Thr)
c.295C>A (p.Pro99Thr)
11g.45806096C>GCA380202683SLC35C1c.256C>G (p.Pro86Ala)
c.295C>G (p.Pro99Ala)
11g.45806096C>TCA380202684SLC35C1c.256C>T (p.Pro86Ser)
c.295C>T (p.Pro99Ser)
gnomAD v4
11g.45806097C>ACA380202686SLC35C1c.257C>A (p.Pro86His)
c.296C>A (p.Pro99His)
gnomAD v4
11g.45806097C=CA1968693004SLC35C1c.257C= (p.Pro86=)
c.296C= (p.Pro99=)
11g.45806097C>GCA380202685SLC35C1c.257C>G (p.Pro86Arg)
c.296C>G (p.Pro99Arg)
11g.45806097C>TCA5958214SLC35C1c.257C>T (p.Pro86Leu)
c.296C>T (p.Pro99Leu)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.45806097_45806098dupCA2613258208SLC35C1c.257_258dup (p.Gly87LeufsTer29)
c.296_297dup (p.Gly100LeufsTer29)
gnomAD v4
11g.45806098T>ACA474036539SLC35C1c.258T>A (p.Pro86=)
c.297T>A (p.Pro99=)
11g.45806098T>CCA474036540SLC35C1c.258T>C (p.Pro86=)
c.297T>C (p.Pro99=)
11g.45806098T>GCA474036541SLC35C1c.258T>G (p.Pro86=)
c.297T>G (p.Pro99=)
11g.45806099G>ACA380202687SLC35C1c.259G>A (p.Gly87Ser)
c.298G>A (p.Gly100Ser)
11g.45806099G>CCA380202688SLC35C1c.259G>C (p.Gly87Arg)
c.298G>C (p.Gly100Arg)
11g.45806099G>TCA380202689SLC35C1c.259G>T (p.Gly87Cys)
c.298G>T (p.Gly100Cys)
gnomAD v4 COSMIC
11g.45806100G>ACA380202690SLC35C1c.260G>A (p.Gly87Asp)
c.299G>A (p.Gly100Asp)
11g.45806100G>CCA380202691SLC35C1c.260G>C (p.Gly87Ala)
c.299G>C (p.Gly100Ala)
11g.45806100G>TCA380202692SLC35C1c.260G>T (p.Gly87Val)
c.299G>T (p.Gly100Val)
gnomAD v4
11g.45806101T>ACA474036546SLC35C1c.261T>A (p.Gly87=)
c.300T>A (p.Gly100=)
11g.45806101T>CCA474036548SLC35C1c.261T>C (p.Gly87=)
c.300T>C (p.Gly100=)
gnomAD v4
11g.45806101T>GCA474036550SLC35C1c.261T>G (p.Gly87=)
c.300T>G (p.Gly100=)
11g.45806102G>ACA380202693SLC35C1c.262G>A (p.Ala88Thr)
c.301G>A (p.Ala101Thr)
11g.45806102G>CCA380202694SLC35C1c.262G>C (p.Ala88Pro)
c.301G>C (p.Ala101Pro)
11g.45806102G>TCA380202695SLC35C1c.262G>T (p.Ala88Ser)
c.301G>T (p.Ala101Ser)
gnomAD v4
11g.45806103C>ACA380202696SLC35C1c.263C>A (p.Ala88Asp)
c.302C>A (p.Ala101Asp)
11g.45806103C>GCA380202697SLC35C1c.263C>G (p.Ala88Gly)
c.302C>G (p.Ala101Gly)
11g.45806103C>TCA380202698SLC35C1c.263C>T (p.Ala88Val)
c.302C>T (p.Ala101Val)
gnomAD v4
11g.45806104C>ACA474036555SLC35C1c.264C>A (p.Ala88=)
c.303C>A (p.Ala101=)
11g.45806104C=CA1968693005SLC35C1c.264C= (p.Ala88=)
c.303C= (p.Ala101=)
11g.45806104C>GCA474036556SLC35C1c.264C>G (p.Ala88=)
c.303C>G (p.Ala101=)
dbSNP gnomAD v2 gnomAD v4
11g.45806104C>TCA474036558SLC35C1c.264C>T (p.Ala88=)
c.303C>T (p.Ala101=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.45806105G>ACA5958215SLC35C1c.265G>A (p.Val89Met)
c.304G>A (p.Val102Met)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806105G>CCA380202700SLC35C1c.265G>C (p.Val89Leu)
c.304G>C (p.Val102Leu)
11g.45806105G=CA1968693006SLC35C1c.265G= (p.Val89=)
c.304G= (p.Val102=)
11g.45806105G>TCA380202699SLC35C1c.265G>T (p.Val89Leu)
c.304G>T (p.Val102Leu)
gnomAD v4
11g.45806106T>ACA380202701SLC35C1c.266T>A (p.Val89Glu)
c.305T>A (p.Val102Glu)
11g.45806106T>CCA380202702SLC35C1c.266T>C (p.Val89Ala)
c.305T>C (p.Val102Ala)
11g.45806106T>GCA380202703SLC35C1c.266T>G (p.Val89Gly)
c.305T>G (p.Val102Gly)
11g.45806107G>ACA474036561SLC35C1c.267G>A (p.Val89=)
c.306G>A (p.Val102=)
11g.45806107G>CCA474036562SLC35C1c.267G>C (p.Val89=)
c.306G>C (p.Val102=)
11g.45806107G>TCA474036563SLC35C1c.267G>T (p.Val89=)
c.306G>T (p.Val102=)
gnomAD v4
11g.45806108G>ACA380202704SLC35C1c.268G>A (p.Asp90Asn)
c.307G>A (p.Asp103Asn)
11g.45806108G>CCA380202705SLC35C1c.268G>C (p.Asp90His)
c.307G>C (p.Asp103His)
11g.45806108G=CA1968693007SLC35C1c.268G= (p.Asp90=)
c.307G= (p.Asp103=)
11g.45806108G>TCA5958216SLC35C1c.268G>T (p.Asp90Tyr)
c.307G>T (p.Asp103Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45806109A>CCA380202708SLC35C1c.269A>C (p.Asp90Ala)
c.308A>C (p.Asp103Ala)
gnomAD v4
11g.45806109A>GCA380202707SLC35C1c.269A>G (p.Asp90Gly)
c.308A>G (p.Asp103Gly)
gnomAD v4
11g.45806109A>TCA380202706SLC35C1c.269A>T (p.Asp90Val)
c.308A>T (p.Asp103Val)
gnomAD v4
11g.45806110C>ACA380202709SLC35C1c.270C>A (p.Asp90Glu)
c.309C>A (p.Asp103Glu)
11g.45806110C=CA1968693008SLC35C1c.270C= (p.Asp90=)
c.309C= (p.Asp103=)
11g.45806110C>GCA380202710SLC35C1c.270C>G (p.Asp90Glu)
c.309C>G (p.Asp103Glu)
11g.45806110C>TCA5958217SLC35C1c.270C>T (p.Asp90=)
c.309C>T (p.Asp103=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45806111T>ACA380202711SLC35C1c.271T>A (p.Phe91Ile)
c.310T>A (p.Phe104Ile)
gnomAD v4
11g.45806111T>CCA380202712SLC35C1c.271T>C (p.Phe91Leu)
c.310T>C (p.Phe104Leu)
11g.45806111T>GCA380202713SLC35C1c.271T>G (p.Phe91Val)
c.310T>G (p.Phe104Val)
11g.45806112dupCA2579753822SLC35C1c.272dup (p.Ser93GlnfsTer27)
c.311dup (p.Ser106GlnfsTer27)
11g.45806112T>ACA380202714SLC35C1c.272T>A (p.Phe91Tyr)
c.311T>A (p.Phe104Tyr)
11g.45806112T>CCA380202716SLC35C1c.272T>C (p.Phe91Ser)
c.311T>C (p.Phe104Ser)
11g.45806112T>GCA380202715SLC35C1c.272T>G (p.Phe91Cys)
c.311T>G (p.Phe104Cys)
11g.45806113C>ACA5958218SLC35C1c.273C>A (p.Phe91Leu)
c.312C>A (p.Phe104Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45806113C=CA1968693009SLC35C1c.273C= (p.Phe91=)
c.312C= (p.Phe104=)
11g.45806113C>GCA380202717SLC35C1c.273C>G (p.Phe91Leu)
c.312C>G (p.Phe104Leu)
11g.45806113C>TCA5958219SLC35C1c.273C>T (p.Phe91=)
c.312C>T (p.Phe104=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.45806114C>ACA380202718SLC35C1c.274C>A (p.Pro92Thr)
c.313C>A (p.Pro105Thr)
11g.45806114C=CA1968693010SLC35C1c.274C= (p.Pro92=)
c.313C= (p.Pro105=)
11g.45806114C>GCA380202719SLC35C1c.274C>G (p.Pro92Ala)
c.313C>G (p.Pro105Ala)
dbSNP
11g.45806114C>TCA380202720SLC35C1c.274C>T (p.Pro92Ser)
c.313C>T (p.Pro105Ser)
COSMIC
11g.45806115C>ACA380202721SLC35C1c.275C>A (p.Pro92His)
c.314C>A (p.Pro105His)
dbSNP
11g.45806115C=CA1968693011SLC35C1c.275C= (p.Pro92=)
c.314C= (p.Pro105=)
11g.45806115C>GCA380202722SLC35C1c.275C>G (p.Pro92Arg)
c.314C>G (p.Pro105Arg)
11g.45806115C>TCA380202723SLC35C1c.275C>T (p.Pro92Leu)
c.314C>T (p.Pro105Leu)
gnomAD v4
11g.45806116C>ACA474036572SLC35C1c.276C>A (p.Pro92=)
c.315C>A (p.Pro105=)
11g.45806116C>GCA474036573SLC35C1c.276C>G (p.Pro92=)
c.315C>G (p.Pro105=)
11g.45806116C>TCA474036574SLC35C1c.276C>T (p.Pro92=)
c.315C>T (p.Pro105=)
11g.45806117A>CCA380202724SLC35C1c.277A>C (p.Ser93Arg)
c.316A>C (p.Ser106Arg)
11g.45806117A>GCA380202725SLC35C1c.277A>G (p.Ser93Gly)
c.316A>G (p.Ser106Gly)
11g.45806117A>TCA380202726SLC35C1c.277A>T (p.Ser93Cys)
c.316A>T (p.Ser106Cys)
11g.45806118G>ACA380202729SLC35C1c.278G>A (p.Ser93Asn)
c.317G>A (p.Ser106Asn)
11g.45806118G>CCA380202727SLC35C1c.278G>C (p.Ser93Thr)
c.317G>C (p.Ser106Thr)
dbSNP gnomAD v3 gnomAD v4
11g.45806118G=CA1968693012SLC35C1c.278G= (p.Ser93=)
c.317G= (p.Ser106=)
11g.45806118G>TCA380202728SLC35C1c.278G>T (p.Ser93Ile)
c.317G>T (p.Ser106Ile)
11g.45806119C>ACA380202730SLC35C1c.279C>A (p.Ser93Arg)
c.318C>A (p.Ser106Arg)
11g.45806119C>GCA380202731SLC35C1c.279C>G (p.Ser93Arg)
c.318C>G (p.Ser106Arg)
11g.45806119C>TCA474036579SLC35C1c.279C>T (p.Ser93=)
c.318C>T (p.Ser106=)
11g.45806120T>ACA380202732SLC35C1c.280T>A (p.Leu94Met)
c.319T>A (p.Leu107Met)
11g.45806120T>CCA474036580SLC35C1c.280T>C (p.Leu94=)
c.319T>C (p.Leu107=)
11g.45806120T>GCA380202733SLC35C1c.280T>G (p.Leu94Val)
c.319T>G (p.Leu107Val)
11g.45806121T>ACA380202734SLC35C1c.281T>A (p.Leu94Ter)
c.320T>A (p.Leu107Ter)
11g.45806121T>CCA380202735SLC35C1c.281T>C (p.Leu94Ser)
c.320T>C (p.Leu107Ser)
11g.45806121T>GCA380202736SLC35C1c.281T>G (p.Leu94Trp)
c.320T>G (p.Leu107Trp)
11g.45806122G>ACA474036584SLC35C1c.282G>A (p.Leu94=)
c.321G>A (p.Leu107=)
gnomAD v4
11g.45806122G>CCA380202737SLC35C1c.282G>C (p.Leu94Phe)
c.321G>C (p.Leu107Phe)
11g.45806122G>TCA380202738SLC35C1c.282G>T (p.Leu94Phe)
c.321G>T (p.Leu107Phe)
gnomAD v4
11g.45806123C>ACA380202739SLC35C1c.283C>A (p.Arg95Ser)
c.322C>A (p.Arg108Ser)
11g.45806123C=CA1968693013SLC35C1c.283C= (p.Arg95=)
c.322C= (p.Arg108=)
11g.45806123C>GCA380202740SLC35C1c.283C>G (p.Arg95Gly)
c.322C>G (p.Arg108Gly)
11g.45806123C>TCA380202741SLC35C1c.283C>T (p.Arg95Cys)
c.322C>T (p.Arg108Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.45806124G>ACA5958220SLC35C1c.284G>A (p.Arg95His)
c.323G>A (p.Arg108His)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806124G>CCA380202743SLC35C1c.284G>C (p.Arg95Pro)
c.323G>C (p.Arg108Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.45806124G=CA1968693014SLC35C1c.284G= (p.Arg95=)
c.323G= (p.Arg108=)
11g.45806124G>TCA380202742SLC35C1c.284G>T (p.Arg95Leu)
c.323G>T (p.Arg108Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45806125C>ACA474036586SLC35C1c.285C>A (p.Arg95=)
c.324C>A (p.Arg108=)
11g.45806125C=CA1968693015SLC35C1c.285C= (p.Arg95=)
c.324C= (p.Arg108=)
11g.45806125C>GCA474036587SLC35C1c.285C>G (p.Arg95=)
c.324C>G (p.Arg108=)
dbSNP
11g.45806125C>TCA5958221SLC35C1c.285C>T (p.Arg95=)
c.324C>T (p.Arg108=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806126C>ACA380202744SLC35C1c.286C>A (p.Leu96Met)
c.325C>A (p.Leu109Met)
11g.45806126C=CA1968693016SLC35C1c.286C= (p.Leu96=)
c.325C= (p.Leu109=)
11g.45806126C>GCA380202745SLC35C1c.286C>G (p.Leu96Val)
c.325C>G (p.Leu109Val)
ClinVar dbSNP gnomAD v4
11g.45806126C>TCA5958222SLC35C1c.286C>T (p.Leu96=)
c.325C>T (p.Leu109=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45806127T>ACA380202746SLC35C1c.287T>A (p.Leu96Gln)
c.326T>A (p.Leu109Gln)
11g.45806127T>CCA380202747SLC35C1c.287T>C (p.Leu96Pro)
c.326T>C (p.Leu109Pro)
11g.45806127T>GCA380202748SLC35C1c.287T>G (p.Leu96Arg)
c.326T>G (p.Leu109Arg)
11g.45806128G>ACA474036589SLC35C1c.288G>A (p.Leu96=)
c.327G>A (p.Leu109=)
11g.45806128G>CCA474036590SLC35C1c.288G>C (p.Leu96=)
c.327G>C (p.Leu109=)
11g.45806128G>TCA474036591SLC35C1c.288G>T (p.Leu96=)
c.327G>T (p.Leu109=)
gnomAD v4
11g.45806129G>ACA380202749SLC35C1c.289G>A (p.Asp97Asn)
c.328G>A (p.Asp110Asn)
COSMIC
11g.45806129G>CCA380202750SLC35C1c.289G>C (p.Asp97His)
c.328G>C (p.Asp110His)
11g.45806129G>TCA380202751SLC35C1c.289G>T (p.Asp97Tyr)
c.328G>T (p.Asp110Tyr)
gnomAD v4
11g.45806130A=CA1968693017SLC35C1c.290A= (p.Asp97=)
c.329A= (p.Asp110=)
11g.45806130A>CCA380202752SLC35C1c.290A>C (p.Asp97Ala)
c.329A>C (p.Asp110Ala)
dbSNP
11g.45806130A>GCA380202753SLC35C1c.290A>G (p.Asp97Gly)
c.329A>G (p.Asp110Gly)
11g.45806130A>TCA380202754SLC35C1c.290A>T (p.Asp97Val)
c.329A>T (p.Asp110Val)
gnomAD v4
11g.45806131C>ACA380202755SLC35C1c.291C>A (p.Asp97Glu)
c.330C>A (p.Asp110Glu)
11g.45806131C=CA1968693018SLC35C1c.291C= (p.Asp97=)
c.330C= (p.Asp110=)
11g.45806131C>GCA380202756SLC35C1c.291C>G (p.Asp97Glu)
c.330C>G (p.Asp110Glu)
ClinVar dbSNP gnomAD v4
11g.45806131C>TCA5958223SLC35C1c.291C>T (p.Asp97=)
c.330C>T (p.Asp110=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45806132C>ACA380202757SLC35C1c.292C>A (p.Leu98Ile)
c.331C>A (p.Leu111Ile)
11g.45806132C>GCA380202758SLC35C1c.292C>G (p.Leu98Val)
c.331C>G (p.Leu111Val)
11g.45806132C>TCA380202759SLC35C1c.292C>T (p.Leu98Phe)
c.331C>T (p.Leu111Phe)
gnomAD v4
11g.45806133T>ACA380202760SLC35C1c.293T>A (p.Leu98His)
c.332T>A (p.Leu111His)
11g.45806133T>CCA380202761SLC35C1c.293T>C (p.Leu98Pro)
c.332T>C (p.Leu111Pro)
11g.45806133T>GCA380202762SLC35C1c.293T>G (p.Leu98Arg)
c.332T>G (p.Leu111Arg)

Number of alleles fetched