Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.9980681G>ACA116941SLC2A9c.592C>T (p.Arg198Cys)
c.505C>T (p.Arg169Cys)
n.626C>T
c.196C>T (p.Arg66Cys)
c.184C>T (p.Arg62Cys)
c.34C>T (p.Arg12Cys)
n.688C>T
c.130C>T (p.Arg44Cys)
c.205C>T (p.Arg69Cys)
n.765C>T
n.769C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.9980681G>CCA356362902SLC2A9c.592C>G (p.Arg198Gly)
c.505C>G (p.Arg169Gly)
n.626C>G
c.196C>G (p.Arg66Gly)
c.184C>G (p.Arg62Gly)
c.34C>G (p.Arg12Gly)
n.688C>G
c.130C>G (p.Arg44Gly)
c.205C>G (p.Arg69Gly)
n.765C>G
n.769C>G
4g.9980681G=CA1437785918SLC2A9c.592C= (p.Arg198=)
c.505C= (p.Arg169=)
n.626C=
c.196C= (p.Arg66=)
c.184C= (p.Arg62=)
c.34C= (p.Arg12=)
n.688C=
c.130C= (p.Arg44=)
c.205C= (p.Arg69=)
n.765C=
n.769C=
4g.9980681G>TCA356362903SLC2A9c.592C>A (p.Arg198Ser)
c.505C>A (p.Arg169Ser)
n.626C>A
c.196C>A (p.Arg66Ser)
c.184C>A (p.Arg62Ser)
c.34C>A (p.Arg12Ser)
n.688C>A
c.130C>A (p.Arg44Ser)
c.205C>A (p.Arg69Ser)
n.765C>A
n.769C>A
COSMIC COSMIC
4g.9980682G>ACA438517615SLC2A9c.591C>T (p.Ile197=)
c.504C>T (p.Ile168=)
n.625C>T
c.195C>T (p.Ile65=)
c.183C>T (p.Ile61=)
c.33C>T (p.Ile11=)
n.687C>T
c.129C>T (p.Ile43=)
c.204C>T (p.Ile68=)
n.764C>T
n.768C>T
gnomAD v4
4g.9980682G>CCA2857170SLC2A9c.591C>G (p.Ile197Met)
c.504C>G (p.Ile168Met)
n.625C>G
c.195C>G (p.Ile65Met)
c.183C>G (p.Ile61Met)
c.33C>G (p.Ile11Met)
n.687C>G
c.129C>G (p.Ile43Met)
c.204C>G (p.Ile68Met)
n.764C>G
n.768C>G
dbSNP ExAC gnomAD v2 gnomAD v4
4g.9980682G=CA1437785919SLC2A9c.591C= (p.Ile197=)
c.504C= (p.Ile168=)
n.625C=
c.195C= (p.Ile65=)
c.183C= (p.Ile61=)
c.33C= (p.Ile11=)
n.687C=
c.129C= (p.Ile43=)
c.204C= (p.Ile68=)
n.764C=
n.768C=
4g.9980682G>TCA438517618SLC2A9c.591C>A (p.Ile197=)
c.504C>A (p.Ile168=)
n.625C>A
c.195C>A (p.Ile65=)
c.183C>A (p.Ile61=)
c.33C>A (p.Ile11=)
n.687C>A
c.129C>A (p.Ile43=)
c.204C>A (p.Ile68=)
n.764C>A
n.768C>A
4g.9980682_9980683insCCCA2670002446SLC2A9c.590_591insGG (p.Ile197MetfsTer9)
c.503_504insGG (p.Ile168MetfsTer9)
n.624_625insGG
c.194_195insGG (p.Ile65MetfsTer9)
c.182_183insGG (p.Ile61MetfsTer9)
c.32_33insGG (p.Ile11MetfsTer9)
n.686_687insGG
c.128_129insGG (p.Ile43MetfsTer9)
c.203_204insGG (p.Ile68MetfsTer9)
n.763_764insGG
n.767_768insGG
gnomAD v4
4g.9980683A>CCA356362904SLC2A9c.590T>G (p.Ile197Ser)
c.503T>G (p.Ile168Ser)
n.624T>G
c.194T>G (p.Ile65Ser)
c.182T>G (p.Ile61Ser)
c.32T>G (p.Ile11Ser)
n.686T>G
c.128T>G (p.Ile43Ser)
c.203T>G (p.Ile68Ser)
n.763T>G
n.767T>G
4g.9980683A>GCA356362906SLC2A9c.590T>C (p.Ile197Thr)
c.503T>C (p.Ile168Thr)
n.624T>C
c.194T>C (p.Ile65Thr)
c.182T>C (p.Ile61Thr)
c.32T>C (p.Ile11Thr)
n.686T>C
c.128T>C (p.Ile43Thr)
c.203T>C (p.Ile68Thr)
n.763T>C
n.767T>C
4g.9980683A>TCA356362905SLC2A9c.590T>A (p.Ile197Asn)
c.503T>A (p.Ile168Asn)
n.624T>A
c.194T>A (p.Ile65Asn)
c.182T>A (p.Ile61Asn)
c.32T>A (p.Ile11Asn)
n.686T>A
c.128T>A (p.Ile43Asn)
c.203T>A (p.Ile68Asn)
n.763T>A
n.767T>A
4g.9980684T>ACA356362907SLC2A9c.589A>T (p.Ile197Phe)
c.502A>T (p.Ile168Phe)
n.623A>T
c.193A>T (p.Ile65Phe)
c.181A>T (p.Ile61Phe)
c.31A>T (p.Ile11Phe)
n.685A>T
c.127A>T (p.Ile43Phe)
c.202A>T (p.Ile68Phe)
n.762A>T
n.766A>T
4g.9980684T>CCA356362909SLC2A9c.589A>G (p.Ile197Val)
c.502A>G (p.Ile168Val)
n.623A>G
c.193A>G (p.Ile65Val)
c.181A>G (p.Ile61Val)
c.31A>G (p.Ile11Val)
n.685A>G
c.127A>G (p.Ile43Val)
c.202A>G (p.Ile68Val)
n.762A>G
n.766A>G
4g.9980684T>GCA356362908SLC2A9c.589A>C (p.Ile197Leu)
c.502A>C (p.Ile168Leu)
n.623A>C
c.193A>C (p.Ile65Leu)
c.181A>C (p.Ile61Leu)
c.31A>C (p.Ile11Leu)
n.685A>C
c.127A>C (p.Ile43Leu)
c.202A>C (p.Ile68Leu)
n.762A>C
n.766A>C
4g.9980685C>ACA356362910SLC2A9c.588G>T (p.Glu196Asp)
c.501G>T (p.Glu167Asp)
n.622G>T
c.192G>T (p.Glu64Asp)
c.180G>T (p.Glu60Asp)
c.30G>T (p.Glu10Asp)
n.684G>T
c.126G>T (p.Glu42Asp)
c.201G>T (p.Glu67Asp)
n.761G>T
n.765G>T
4g.9980685C=CA1437785920SLC2A9c.588G= (p.Glu196=)
c.501G= (p.Glu167=)
n.622G=
c.192G= (p.Glu64=)
c.180G= (p.Glu60=)
c.30G= (p.Glu10=)
n.684G=
c.126G= (p.Glu42=)
c.201G= (p.Glu67=)
n.761G=
n.765G=
4g.9980685C>GCA92226486SLC2A9c.588G>C (p.Glu196Asp)
c.501G>C (p.Glu167Asp)
n.622G>C
c.192G>C (p.Glu64Asp)
c.180G>C (p.Glu60Asp)
c.30G>C (p.Glu10Asp)
n.684G>C
c.126G>C (p.Glu42Asp)
c.201G>C (p.Glu67Asp)
n.761G>C
n.765G>C
dbSNP
4g.9980685C>TCA438517623SLC2A9c.588G>A (p.Glu196=)
c.501G>A (p.Glu167=)
n.622G>A
c.192G>A (p.Glu64=)
c.180G>A (p.Glu60=)
c.30G>A (p.Glu10=)
n.684G>A
c.126G>A (p.Glu42=)
c.201G>A (p.Glu67=)
n.761G>A
n.765G>A
4g.9980686T>ACA356362911SLC2A9c.587A>T (p.Glu196Val)
c.500A>T (p.Glu167Val)
n.621A>T
c.191A>T (p.Glu64Val)
c.179A>T (p.Glu60Val)
c.29A>T (p.Glu10Val)
n.683A>T
c.125A>T (p.Glu42Val)
c.200A>T (p.Glu67Val)
n.760A>T
n.764A>T
4g.9980686T>CCA356362912SLC2A9c.587A>G (p.Glu196Gly)
c.500A>G (p.Glu167Gly)
n.621A>G
c.191A>G (p.Glu64Gly)
c.179A>G (p.Glu60Gly)
c.29A>G (p.Glu10Gly)
n.683A>G
c.125A>G (p.Glu42Gly)
c.200A>G (p.Glu67Gly)
n.760A>G
n.764A>G
4g.9980686T>GCA356362913SLC2A9c.587A>C (p.Glu196Ala)
c.500A>C (p.Glu167Ala)
n.621A>C
c.191A>C (p.Glu64Ala)
c.179A>C (p.Glu60Ala)
c.29A>C (p.Glu10Ala)
n.683A>C
c.125A>C (p.Glu42Ala)
c.200A>C (p.Glu67Ala)
n.760A>C
n.764A>C
4g.9980687C>ACA356362914SLC2A9c.586G>T (p.Glu196Ter)
c.499G>T (p.Glu167Ter)
n.620G>T
c.190G>T (p.Glu64Ter)
c.178G>T (p.Glu60Ter)
c.28G>T (p.Glu10Ter)
n.682G>T
c.124G>T (p.Glu42Ter)
c.199G>T (p.Glu67Ter)
n.759G>T
n.763G>T
4g.9980687C>GCA356362915SLC2A9c.586G>C (p.Glu196Gln)
c.499G>C (p.Glu167Gln)
n.620G>C
c.190G>C (p.Glu64Gln)
c.178G>C (p.Glu60Gln)
c.28G>C (p.Glu10Gln)
n.682G>C
c.124G>C (p.Glu42Gln)
c.199G>C (p.Glu67Gln)
n.759G>C
n.763G>C
4g.9980687C>TCA356362916SLC2A9c.586G>A (p.Glu196Lys)
c.499G>A (p.Glu167Lys)
n.620G>A
c.190G>A (p.Glu64Lys)
c.178G>A (p.Glu60Lys)
c.28G>A (p.Glu10Lys)
n.682G>A
c.124G>A (p.Glu42Lys)
c.199G>A (p.Glu67Lys)
n.759G>A
n.763G>A
4g.9980688C>ACA356362917SLC2A9c.585G>T (p.Lys195Asn)
c.498G>T (p.Lys166Asn)
n.619G>T
c.189G>T (p.Lys63Asn)
c.177G>T (p.Lys59Asn)
c.27G>T (p.Lys9Asn)
n.681G>T
c.123G>T (p.Lys41Asn)
c.198G>T (p.Lys66Asn)
n.758G>T
n.762G>T
4g.9980688C=CA1437785921SLC2A9c.585G= (p.Lys195=)
c.498G= (p.Lys166=)
n.619G=
c.189G= (p.Lys63=)
c.177G= (p.Lys59=)
c.27G= (p.Lys9=)
n.681G=
c.123G= (p.Lys41=)
c.198G= (p.Lys66=)
n.758G=
n.762G=
4g.9980688C>GCA356362918SLC2A9c.585G>C (p.Lys195Asn)
c.498G>C (p.Lys166Asn)
n.619G>C
c.189G>C (p.Lys63Asn)
c.177G>C (p.Lys59Asn)
c.27G>C (p.Lys9Asn)
n.681G>C
c.123G>C (p.Lys41Asn)
c.198G>C (p.Lys66Asn)
n.758G>C
n.762G>C
dbSNP gnomAD v3 gnomAD v4
4g.9980688C>TCA438517625SLC2A9c.585G>A (p.Lys195=)
c.498G>A (p.Lys166=)
n.619G>A
c.189G>A (p.Lys63=)
c.177G>A (p.Lys59=)
c.27G>A (p.Lys9=)
n.681G>A
c.123G>A (p.Lys41=)
c.198G>A (p.Lys66=)
n.758G>A
n.762G>A
dbSNP
4g.9980689T>ACA356362919SLC2A9c.584A>T (p.Lys195Met)
c.497A>T (p.Lys166Met)
n.618A>T
c.188A>T (p.Lys63Met)
c.176A>T (p.Lys59Met)
c.26A>T (p.Lys9Met)
n.680A>T
c.122A>T (p.Lys41Met)
c.197A>T (p.Lys66Met)
n.757A>T
n.761A>T
4g.9980689T>CCA356362920SLC2A9c.584A>G (p.Lys195Arg)
c.497A>G (p.Lys166Arg)
n.618A>G
c.188A>G (p.Lys63Arg)
c.176A>G (p.Lys59Arg)
c.26A>G (p.Lys9Arg)
n.680A>G
c.122A>G (p.Lys41Arg)
c.197A>G (p.Lys66Arg)
n.757A>G
n.761A>G
dbSNP gnomAD v3 gnomAD v4
4g.9980689T>GCA356362921SLC2A9c.584A>C (p.Lys195Thr)
c.497A>C (p.Lys166Thr)
n.618A>C
c.188A>C (p.Lys63Thr)
c.176A>C (p.Lys59Thr)
c.26A>C (p.Lys9Thr)
n.680A>C
c.122A>C (p.Lys41Thr)
c.197A>C (p.Lys66Thr)
n.757A>C
n.761A>C
4g.9980689T=CA1437785922SLC2A9c.584A= (p.Lys195=)
c.497A= (p.Lys166=)
n.618A=
c.188A= (p.Lys63=)
c.176A= (p.Lys59=)
c.26A= (p.Lys9=)
n.680A=
c.122A= (p.Lys41=)
c.197A= (p.Lys66=)
n.757A=
n.761A=
4g.9980690T>ACA356362922SLC2A9c.583A>T (p.Lys195Ter)
c.496A>T (p.Lys166Ter)
n.617A>T
c.187A>T (p.Lys63Ter)
c.175A>T (p.Lys59Ter)
c.25A>T (p.Lys9Ter)
n.679A>T
c.121A>T (p.Lys41Ter)
c.196A>T (p.Lys66Ter)
n.756A>T
n.760A>T
4g.9980690T>CCA2857171SLC2A9c.583A>G (p.Lys195Glu)
c.496A>G (p.Lys166Glu)
n.617A>G
c.187A>G (p.Lys63Glu)
c.175A>G (p.Lys59Glu)
c.25A>G (p.Lys9Glu)
n.679A>G
c.121A>G (p.Lys41Glu)
c.196A>G (p.Lys66Glu)
n.756A>G
n.760A>G
dbSNP ExAC gnomAD v2 gnomAD v4
4g.9980690T>GCA356362923SLC2A9c.583A>C (p.Lys195Gln)
c.496A>C (p.Lys166Gln)
n.617A>C
c.187A>C (p.Lys63Gln)
c.175A>C (p.Lys59Gln)
c.25A>C (p.Lys9Gln)
n.679A>C
c.121A>C (p.Lys41Gln)
c.196A>C (p.Lys66Gln)
n.756A>C
n.760A>C
4g.9980690T=CA1437785923SLC2A9c.583A= (p.Lys195=)
c.496A= (p.Lys166=)
n.617A=
c.187A= (p.Lys63=)
c.175A= (p.Lys59=)
c.25A= (p.Lys9=)
n.679A=
c.121A= (p.Lys41=)
c.196A= (p.Lys66=)
n.756A=
n.760A=
4g.9980691G>ACA438517628SLC2A9c.582C>T (p.Pro194=)
c.495C>T (p.Pro165=)
n.616C>T
c.186C>T (p.Pro62=)
c.174C>T (p.Pro58=)
c.24C>T (p.Pro8=)
n.678C>T
c.120C>T (p.Pro40=)
c.195C>T (p.Pro65=)
n.755C>T
n.759C>T
dbSNP gnomAD v4
4g.9980691G>CCA438517629SLC2A9c.582C>G (p.Pro194=)
c.495C>G (p.Pro165=)
n.616C>G
c.186C>G (p.Pro62=)
c.174C>G (p.Pro58=)
c.24C>G (p.Pro8=)
n.678C>G
c.120C>G (p.Pro40=)
c.195C>G (p.Pro65=)
n.755C>G
n.759C>G
dbSNP gnomAD v4
4g.9980691G=CA1437785924SLC2A9c.582C= (p.Pro194=)
c.495C= (p.Pro165=)
n.616C=
c.186C= (p.Pro62=)
c.174C= (p.Pro58=)
c.24C= (p.Pro8=)
n.678C=
c.120C= (p.Pro40=)
c.195C= (p.Pro65=)
n.755C=
n.759C=
4g.9980691G>TCA438517630SLC2A9c.582C>A (p.Pro194=)
c.495C>A (p.Pro165=)
n.616C>A
c.186C>A (p.Pro62=)
c.174C>A (p.Pro58=)
c.24C>A (p.Pro8=)
n.678C>A
c.120C>A (p.Pro40=)
c.195C>A (p.Pro65=)
n.755C>A
n.759C>A
4g.9980692G>ACA356362924SLC2A9c.581C>T (p.Pro194Leu)
c.494C>T (p.Pro165Leu)
n.615C>T
c.185C>T (p.Pro62Leu)
c.173C>T (p.Pro58Leu)
c.23C>T (p.Pro8Leu)
n.677C>T
c.119C>T (p.Pro40Leu)
c.194C>T (p.Pro65Leu)
n.754C>T
n.758C>T
COSMIC COSMIC
4g.9980692G>CCA356362925SLC2A9c.581C>G (p.Pro194Arg)
c.494C>G (p.Pro165Arg)
n.615C>G
c.185C>G (p.Pro62Arg)
c.173C>G (p.Pro58Arg)
c.23C>G (p.Pro8Arg)
n.677C>G
c.119C>G (p.Pro40Arg)
c.194C>G (p.Pro65Arg)
n.754C>G
n.758C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.9980692G=CA1437785925SLC2A9c.581C= (p.Pro194=)
c.494C= (p.Pro165=)
n.615C=
c.185C= (p.Pro62=)
c.173C= (p.Pro58=)
c.23C= (p.Pro8=)
n.677C=
c.119C= (p.Pro40=)
c.194C= (p.Pro65=)
n.754C=
n.758C=
4g.9980692G>TCA356362926SLC2A9c.581C>A (p.Pro194His)
c.494C>A (p.Pro165His)
n.615C>A
c.185C>A (p.Pro62His)
c.173C>A (p.Pro58His)
c.23C>A (p.Pro8His)
n.677C>A
c.119C>A (p.Pro40His)
c.194C>A (p.Pro65His)
n.754C>A
n.758C>A
COSMIC COSMIC
4g.9980693G>ACA356362927SLC2A9c.580C>T (p.Pro194Ser)
c.493C>T (p.Pro165Ser)
n.614C>T
c.184C>T (p.Pro62Ser)
c.172C>T (p.Pro58Ser)
c.22C>T (p.Pro8Ser)
n.676C>T
c.118C>T (p.Pro40Ser)
c.193C>T (p.Pro65Ser)
n.753C>T
n.757C>T
4g.9980693G>CCA356362928SLC2A9c.580C>G (p.Pro194Ala)
c.493C>G (p.Pro165Ala)
n.614C>G
c.184C>G (p.Pro62Ala)
c.172C>G (p.Pro58Ala)
c.22C>G (p.Pro8Ala)
n.676C>G
c.118C>G (p.Pro40Ala)
c.193C>G (p.Pro65Ala)
n.753C>G
n.757C>G
gnomAD v4
4g.9980693G>TCA356362929SLC2A9c.580C>A (p.Pro194Thr)
c.493C>A (p.Pro165Thr)
n.614C>A
c.184C>A (p.Pro62Thr)
c.172C>A (p.Pro58Thr)
c.22C>A (p.Pro8Thr)
n.676C>A
c.118C>A (p.Pro40Thr)
c.193C>A (p.Pro65Thr)
n.753C>A
n.757C>A
4g.9980694T>ACA438517633SLC2A9c.579A>T (p.Ser193=)
c.492A>T (p.Ser164=)
n.613A>T
c.183A>T (p.Ser61=)
c.171A>T (p.Ser57=)
c.21A>T (p.Ser7=)
n.675A>T
c.117A>T (p.Ser39=)
c.192A>T (p.Ser64=)
n.752A>T
n.756A>T
4g.9980694T>CCA438517636SLC2A9c.579A>G (p.Ser193=)
c.492A>G (p.Ser164=)
n.613A>G
c.183A>G (p.Ser61=)
c.171A>G (p.Ser57=)
c.21A>G (p.Ser7=)
n.675A>G
c.117A>G (p.Ser39=)
c.192A>G (p.Ser64=)
n.752A>G
n.756A>G

Number of alleles fetched