Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.46725081T>ACA510770821SLC2A10c.45T>A (p.Ser15=)
n.197T>A
c.108T>A (p.Ser36=)
c.54T>A (p.Ser18=)
n.244T>A
n.231T>A
20g.46725081T>CCA510770820SLC2A10c.45T>C (p.Ser15=)
n.197T>C
c.108T>C (p.Ser36=)
c.54T>C (p.Ser18=)
n.244T>C
n.231T>C
20g.46725081T>GCA510770819SLC2A10c.45T>G (p.Ser15=)
n.197T>G
c.108T>G (p.Ser36=)
c.54T>G (p.Ser18=)
n.244T>G
n.231T>G
20g.46725082T>ACA409266235SLC2A10c.46T>A (p.Leu16Met)
n.198T>A
c.109T>A (p.Leu37Met)
c.55T>A (p.Leu19Met)
n.245T>A
n.232T>A
20g.46725082T>CCA510770822SLC2A10c.46T>C (p.Leu16=)
n.198T>C
c.109T>C (p.Leu37=)
c.55T>C (p.Leu19=)
n.245T>C
n.232T>C
 gnomAD v4
20g.46725082T>GCA409266236SLC2A10c.46T>G (p.Leu16Val)
n.198T>G
c.109T>G (p.Leu37Val)
c.55T>G (p.Leu19Val)
n.245T>G
n.232T>G
20g.46725083T>ACA409266237SLC2A10c.47T>A (p.Leu16Ter)
n.199T>A
c.110T>A (p.Leu37Ter)
c.56T>A (p.Leu19Ter)
n.246T>A
n.233T>A
20g.46725083T>CCA409266238SLC2A10c.47T>C (p.Leu16Ser)
n.199T>C
c.110T>C (p.Leu37Ser)
c.56T>C (p.Leu19Ser)
n.246T>C
n.233T>C
 ClinVar gnomAD v4
20g.46725083T>GCA409266239SLC2A10c.47T>G (p.Leu16Trp)
n.199T>G
c.110T>G (p.Leu37Trp)
c.56T>G (p.Leu19Trp)
n.246T>G
n.233T>G
20g.46725084G>ACA510770823SLC2A10c.48G>A (p.Leu16=)
n.200G>A
c.111G>A (p.Leu37=)
c.57G>A (p.Leu19=)
n.247G>A
n.234G>A
 ClinVar dbSNP
20g.46725084G>CCA409266240SLC2A10c.48G>C (p.Leu16Phe)
n.200G>C
c.111G>C (p.Leu37Phe)
c.57G>C (p.Leu19Phe)
n.247G>C
n.234G>C
 gnomAD v4
20g.46725084G=CA2366796029SLC2A10c.48G= (p.Leu16=)
n.200G=
c.111G= (p.Leu37=)
c.57G= (p.Leu19=)
n.247G=
n.234G=
20g.46725084G>TCA409266241SLC2A10c.48G>T (p.Leu16Phe)
n.200G>T
c.111G>T (p.Leu37Phe)
c.57G>T (p.Leu19Phe)
n.247G>T
n.234G>T
20g.46725085C>ACA409266242SLC2A10c.49C>A (p.Leu17Met)
n.201C>A
c.112C>A (p.Leu38Met)
c.58C>A (p.Leu20Met)
n.248C>A
n.235C>A
20g.46725085C>GCA409266243SLC2A10c.49C>G (p.Leu17Val)
n.201C>G
c.112C>G (p.Leu38Val)
c.58C>G (p.Leu20Val)
n.248C>G
n.235C>G
20g.46725085C>TCA510770824SLC2A10c.49C>T (p.Leu17=)
n.201C>T
c.112C>T (p.Leu38=)
c.58C>T (p.Leu20=)
n.248C>T
n.235C>T
 gnomAD v4
20g.46725086T>ACA409266246SLC2A10c.50T>A (p.Leu17Gln)
n.202T>A
c.113T>A (p.Leu38Gln)
c.59T>A (p.Leu20Gln)
n.249T>A
n.236T>A
20g.46725086T>CCA409266244SLC2A10c.50T>C (p.Leu17Pro)
n.202T>C
c.113T>C (p.Leu38Pro)
c.59T>C (p.Leu20Pro)
n.249T>C
n.236T>C
20g.46725086T>GCA409266245SLC2A10c.50T>G (p.Leu17Arg)
n.202T>G
c.113T>G (p.Leu38Arg)
c.59T>G (p.Leu20Arg)
n.249T>G
n.236T>G
20g.46725087G>ACA510770825SLC2A10c.51G>A (p.Leu17=)
n.203G>A
c.114G>A (p.Leu38=)
c.60G>A (p.Leu20=)
n.250G>A
n.237G>A
20g.46725087G>CCA510770826SLC2A10c.51G>C (p.Leu17=)
n.203G>C
c.114G>C (p.Leu38=)
c.60G>C (p.Leu20=)
n.250G>C
n.237G>C
20g.46725087G>TCA510770827SLC2A10c.51G>T (p.Leu17=)
n.203G>T
c.114G>T (p.Leu38=)
c.60G>T (p.Leu20=)
n.250G>T
n.237G>T
 ClinVar
20g.46725088G>ACA409266247SLC2A10c.52G>A (p.Gly18Ser)
n.204G>A
c.115G>A (p.Gly39Ser)
c.61G>A (p.Gly21Ser)
n.251G>A
n.238G>A
20g.46725088G>CCA409266248SLC2A10c.52G>C (p.Gly18Arg)
n.204G>C
c.115G>C (p.Gly39Arg)
c.61G>C (p.Gly21Arg)
n.251G>C
n.238G>C
20g.46725088G>TCA409266249SLC2A10c.52G>T (p.Gly18Cys)
n.204G>T
c.115G>T (p.Gly39Cys)
c.61G>T (p.Gly21Cys)
n.251G>T
n.238G>T
 gnomAD v4
20g.46725089G>ACA409266250SLC2A10c.53G>A (p.Gly18Asp)
n.205G>A
c.116G>A (p.Gly39Asp)
c.62G>A (p.Gly21Asp)
n.252G>A
n.239G>A
 gnomAD v4
20g.46725089G>CCA409266251SLC2A10c.53G>C (p.Gly18Ala)
n.205G>C
c.116G>C (p.Gly39Ala)
c.62G>C (p.Gly21Ala)
n.252G>C
n.239G>C
20g.46725089G>TCA409266252SLC2A10c.53G>T (p.Gly18Val)
n.205G>T
c.116G>T (p.Gly39Val)
c.62G>T (p.Gly21Val)
n.252G>T
n.239G>T
20g.46725090T>ACA9891906SLC2A10c.54T>A (p.Gly18=)
n.206T>A
c.117T>A (p.Gly39=)
c.63T>A (p.Gly21=)
n.253T>A
n.240T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725090T>CCA9891905SLC2A10c.54T>C (p.Gly18=)
n.206T>C
c.117T>C (p.Gly39=)
c.63T>C (p.Gly21=)
n.253T>C
n.240T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725090T>GCA510770828SLC2A10c.54T>G (p.Gly18=)
n.206T>G
c.117T>G (p.Gly39=)
c.63T>G (p.Gly21=)
n.253T>G
n.240T>G
20g.46725090T=CA2366796030SLC2A10c.54T= (p.Gly18=)
n.206T=
c.117T= (p.Gly39=)
c.63T= (p.Gly21=)
n.253T=
n.240T=
20g.46725091G>ACA409266253SLC2A10c.55G>A (p.Gly19Ser)
n.207G>A
c.118G>A (p.Gly40Ser)
c.64G>A (p.Gly22Ser)
n.254G>A
n.241G>A
20g.46725091G>CCA409266254SLC2A10c.55G>C (p.Gly19Arg)
n.207G>C
c.118G>C (p.Gly40Arg)
c.64G>C (p.Gly22Arg)
n.254G>C
n.241G>C
20g.46725091G>TCA409266255SLC2A10c.55G>T (p.Gly19Cys)
n.207G>T
c.118G>T (p.Gly40Cys)
c.64G>T (p.Gly22Cys)
n.254G>T
n.241G>T
20g.46725092dupCA2580615417SLC2A10c.56dup (p.Leu20ProfsTer6)
n.208dup
c.119dup (p.Leu41ProfsTer6)
c.65dup (p.Leu23ProfsTer6)
n.255dup
n.242dup
 ClinVar
20g.46725092G>ACA409266258SLC2A10c.56G>A (p.Gly19Asp)
n.208G>A
c.119G>A (p.Gly40Asp)
c.65G>A (p.Gly22Asp)
n.255G>A
n.242G>A
20g.46725092G>CCA409266257SLC2A10c.56G>C (p.Gly19Ala)
n.208G>C
c.119G>C (p.Gly40Ala)
c.65G>C (p.Gly22Ala)
n.255G>C
n.242G>C
 dbSNP
20g.46725092G=CA2366796031SLC2A10c.56G= (p.Gly19=)
n.208G=
c.119G= (p.Gly40=)
c.65G= (p.Gly22=)
n.255G=
n.242G=
20g.46725092G>TCA409266256SLC2A10c.56G>T (p.Gly19Val)
n.208G>T
c.119G>T (p.Gly40Val)
c.65G>T (p.Gly22Val)
n.255G>T
n.242G>T
 COSMIC
20g.46725093C>ACA510770832SLC2A10c.57C>A (p.Gly19=)
n.209C>A
c.120C>A (p.Gly40=)
c.66C>A (p.Gly22=)
n.256C>A
n.243C>A
20g.46725093C=CA2366796032SLC2A10c.57C= (p.Gly19=)
n.209C=
c.120C= (p.Gly40=)
c.66C= (p.Gly22=)
n.256C=
n.243C=
20g.46725093C>GCA510770833SLC2A10c.57C>G (p.Gly19=)
n.209C>G
c.120C>G (p.Gly40=)
c.66C>G (p.Gly22=)
n.256C>G
n.243C>G
20g.46725093C>TCA510770834SLC2A10c.57C>T (p.Gly19=)
n.209C>T
c.120C>T (p.Gly40=)
c.66C>T (p.Gly22=)
n.256C>T
n.243C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.46725094C>ACA409266259SLC2A10c.58C>A (p.Leu20Met)
n.210C>A
c.121C>A (p.Leu41Met)
c.67C>A (p.Leu23Met)
n.257C>A
n.244C>A
20g.46725094C>GCA409266260SLC2A10c.58C>G (p.Leu20Val)
n.210C>G
c.121C>G (p.Leu41Val)
c.67C>G (p.Leu23Val)
n.257C>G
n.244C>G
20g.46725094C>TCA510770835SLC2A10c.58C>T (p.Leu20=)
n.210C>T
c.121C>T (p.Leu41=)
c.67C>T (p.Leu23=)
n.257C>T
n.244C>T
 gnomAD v4
20g.46725095T>ACA409266261SLC2A10c.59T>A (p.Leu20Gln)
n.211T>A
c.122T>A (p.Leu41Gln)
c.68T>A (p.Leu23Gln)
n.258T>A
n.245T>A
20g.46725095T>CCA409266262SLC2A10c.59T>C (p.Leu20Pro)
n.211T>C
c.122T>C (p.Leu41Pro)
c.68T>C (p.Leu23Pro)
n.258T>C
n.245T>C
20g.46725095T>GCA409266263SLC2A10c.59T>G (p.Leu20Arg)
n.211T>G
c.122T>G (p.Leu41Arg)
c.68T>G (p.Leu23Arg)
n.258T>G
n.245T>G
20g.46725096G>ACA510770837SLC2A10c.60G>A (p.Leu20=)
n.212G>A
c.123G>A (p.Leu41=)
c.69G>A (p.Leu23=)
n.259G>A
n.246G>A
20g.46725096G>CCA510770838SLC2A10c.60G>C (p.Leu20=)
n.212G>C
c.123G>C (p.Leu41=)
c.69G>C (p.Leu23=)
n.259G>C
n.246G>C
20g.46725096G>TCA510770839SLC2A10c.60G>T (p.Leu20=)
n.212G>T
c.123G>T (p.Leu41=)
c.69G>T (p.Leu23=)
n.259G>T
n.246G>T
20g.46725097A=CA2366796033SLC2A10c.61A= (p.Thr21=)
n.213A=
c.124A= (p.Thr42=)
c.70A= (p.Thr24=)
n.260A=
n.247A=
20g.46725097A>CCA409266266SLC2A10c.61A>C (p.Thr21Pro)
n.213A>C
c.124A>C (p.Thr42Pro)
c.70A>C (p.Thr24Pro)
n.260A>C
n.247A>C
 dbSNP
20g.46725097A>GCA409266265SLC2A10c.61A>G (p.Thr21Ala)
n.213A>G
c.124A>G (p.Thr42Ala)
c.70A>G (p.Thr24Ala)
n.260A>G
n.247A>G
 dbSNP gnomAD v2 gnomAD v4
20g.46725097A>TCA409266264SLC2A10c.61A>T (p.Thr21Ser)
n.213A>T
c.124A>T (p.Thr42Ser)
c.70A>T (p.Thr24Ser)
n.260A>T
n.247A>T
20g.46725098C>ACA409266267SLC2A10c.62C>A (p.Thr21Asn)
n.214C>A
c.125C>A (p.Thr42Asn)
c.71C>A (p.Thr24Asn)
n.261C>A
n.248C>A
 gnomAD v4
20g.46725098C>GCA409266268SLC2A10c.62C>G (p.Thr21Ser)
n.214C>G
c.125C>G (p.Thr42Ser)
c.71C>G (p.Thr24Ser)
n.261C>G
n.248C>G
 gnomAD v4
20g.46725098C>TCA409266269SLC2A10c.62C>T (p.Thr21Ile)
n.214C>T
c.125C>T (p.Thr42Ile)
c.71C>T (p.Thr24Ile)
n.261C>T
n.248C>T
20g.46725099C>ACA510770842SLC2A10c.63C>A (p.Thr21=)
n.215C>A
c.126C>A (p.Thr42=)
c.72C>A (p.Thr24=)
n.262C>A
n.249C>A
20g.46725099C=CA2366796034SLC2A10c.63C= (p.Thr21=)
n.215C=
c.126C= (p.Thr42=)
c.72C= (p.Thr24=)
n.262C=
n.249C=
20g.46725099C>GCA315755066SLC2A10c.63C>G (p.Thr21=)
n.215C>G
c.126C>G (p.Thr42=)
c.72C>G (p.Thr24=)
n.262C>G
n.249C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46725099C>TCA510770841SLC2A10c.63C>T (p.Thr21=)
n.215C>T
c.126C>T (p.Thr42=)
c.72C>T (p.Thr24=)
n.262C>T
n.249C>T
20g.46725100T>ACA409266270SLC2A10c.64T>A (p.Phe22Ile)
n.216T>A
c.127T>A (p.Phe43Ile)
c.73T>A (p.Phe25Ile)
n.263T>A
n.250T>A
20g.46725100T>CCA409266271SLC2A10c.64T>C (p.Phe22Leu)
n.216T>C
c.127T>C (p.Phe43Leu)
c.73T>C (p.Phe25Leu)
n.263T>C
n.250T>C
20g.46725100T>GCA409266272SLC2A10c.64T>G (p.Phe22Val)
n.216T>G
c.127T>G (p.Phe43Val)
c.73T>G (p.Phe25Val)
n.263T>G
n.250T>G
20g.46725101T>ACA409266273SLC2A10c.65T>A (p.Phe22Tyr)
n.217T>A
c.128T>A (p.Phe43Tyr)
c.74T>A (p.Phe25Tyr)
n.264T>A
n.251T>A
20g.46725101T>CCA409266274SLC2A10c.65T>C (p.Phe22Ser)
n.217T>C
c.128T>C (p.Phe43Ser)
c.74T>C (p.Phe25Ser)
n.264T>C
n.251T>C
20g.46725101T>GCA16616226SLC2A10c.65T>G (p.Phe22Cys)
n.217T>G
c.128T>G (p.Phe43Cys)
c.74T>G (p.Phe25Cys)
n.264T>G
n.251T>G
 ClinVar dbSNP
20g.46725101T=CA2366796035SLC2A10c.65T= (p.Phe22=)
n.217T=
c.128T= (p.Phe43=)
c.74T= (p.Phe25=)
n.264T=
n.251T=
20g.46725102T>ACA409266275SLC2A10c.66T>A (p.Phe22Leu)
n.218T>A
c.129T>A (p.Phe43Leu)
c.75T>A (p.Phe25Leu)
n.265T>A
n.252T>A
20g.46725102T>CCA510770845SLC2A10c.66T>C (p.Phe22=)
n.218T>C
c.129T>C (p.Phe43=)
c.75T>C (p.Phe25=)
n.265T>C
n.252T>C
20g.46725102T>GCA409266276SLC2A10c.66T>G (p.Phe22Leu)
n.218T>G
c.129T>G (p.Phe43Leu)
c.75T>G (p.Phe25Leu)
n.265T>G
n.252T>G
20g.46725103G>ACA9891907SLC2A10c.67G>A (p.Gly23Ser)
n.219G>A
c.130G>A (p.Gly44Ser)
c.76G>A (p.Gly26Ser)
n.266G>A
n.253G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725103G>CCA409266277SLC2A10c.67G>C (p.Gly23Arg)
n.219G>C
c.130G>C (p.Gly44Arg)
c.76G>C (p.Gly26Arg)
n.266G>C
n.253G>C
20g.46725103G=CA2366796036SLC2A10c.67G= (p.Gly23=)
n.219G=
c.130G= (p.Gly44=)
c.76G= (p.Gly26=)
n.266G=
n.253G=
20g.46725103G>TCA409266278SLC2A10c.67G>T (p.Gly23Cys)
n.219G>T
c.130G>T (p.Gly44Cys)
c.76G>T (p.Gly26Cys)
n.266G>T
n.253G>T
 gnomAD v3 gnomAD v4
20g.46725104G>ACA409266279SLC2A10c.68G>A (p.Gly23Asp)
n.220G>A
c.131G>A (p.Gly44Asp)
c.77G>A (p.Gly26Asp)
n.267G>A
n.254G>A
 dbSNP gnomAD v3 gnomAD v4
20g.46725104G>CCA409266280SLC2A10c.68G>C (p.Gly23Ala)
n.220G>C
c.131G>C (p.Gly44Ala)
c.77G>C (p.Gly26Ala)
n.267G>C
n.254G>C
20g.46725104G=CA2366796037SLC2A10c.68G= (p.Gly23=)
n.220G=
c.131G= (p.Gly44=)
c.77G= (p.Gly26=)
n.267G=
n.254G=
20g.46725104G>TCA409266281SLC2A10c.68G>T (p.Gly23Val)
n.220G>T
c.131G>T (p.Gly44Val)
c.77G>T (p.Gly26Val)
n.267G>T
n.254G>T
 ClinVar gnomAD v4
20g.46725105T>ACA510770849SLC2A10c.69T>A (p.Gly23=)
n.221T>A
c.132T>A (p.Gly44=)
c.78T>A (p.Gly26=)
n.268T>A
n.255T>A
20g.46725105T>CCA510770847SLC2A10c.69T>C (p.Gly23=)
n.221T>C
c.132T>C (p.Gly44=)
c.78T>C (p.Gly26=)
n.268T>C
n.255T>C
20g.46725105T>GCA510770848SLC2A10c.69T>G (p.Gly23=)
n.221T>G
c.132T>G (p.Gly44=)
c.78T>G (p.Gly26=)
n.268T>G
n.255T>G
20g.46725106T>ACA409266282SLC2A10c.70T>A (p.Tyr24Asn)
n.222T>A
c.133T>A (p.Tyr45Asn)
c.79T>A (p.Tyr27Asn)
n.269T>A
n.256T>A
20g.46725106T>CCA409266283SLC2A10c.70T>C (p.Tyr24His)
n.222T>C
c.133T>C (p.Tyr45His)
c.79T>C (p.Tyr27His)
n.269T>C
n.256T>C
20g.46725106T>GCA409266284SLC2A10c.70T>G (p.Tyr24Asp)
n.222T>G
c.133T>G (p.Tyr45Asp)
c.79T>G (p.Tyr27Asp)
n.269T>G
n.256T>G
20g.46725107A=CA2366796038SLC2A10c.71A= (p.Tyr24=)
n.223A=
c.134A= (p.Tyr45=)
c.80A= (p.Tyr27=)
n.270A=
n.257A=
20g.46725107A>CCA409266285SLC2A10c.71A>C (p.Tyr24Ser)
n.223A>C
c.134A>C (p.Tyr45Ser)
c.80A>C (p.Tyr27Ser)
n.270A>C
n.257A>C
20g.46725107A>GCA315755073SLC2A10c.71A>G (p.Tyr24Cys)
n.223A>G
c.134A>G (p.Tyr45Cys)
c.80A>G (p.Tyr27Cys)
n.270A>G
n.257A>G
 dbSNP COSMIC
20g.46725107A>TCA10653172SLC2A10c.71A>T (p.Tyr24Phe)
n.223A>T
c.134A>T (p.Tyr45Phe)
c.80A>T (p.Tyr27Phe)
n.270A>T
n.257A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.46725108T>ACA409266287SLC2A10c.72T>A (p.Tyr24Ter)
n.224T>A
c.135T>A (p.Tyr45Ter)
c.81T>A (p.Tyr27Ter)
n.271T>A
n.258T>A
20g.46725108T>CCA510770853SLC2A10c.72T>C (p.Tyr24=)
n.224T>C
c.135T>C (p.Tyr45=)
c.81T>C (p.Tyr27=)
n.271T>C
n.258T>C
20g.46725108T>GCA409266286SLC2A10c.72T>G (p.Tyr24Ter)
n.224T>G
c.135T>G (p.Tyr45Ter)
c.81T>G (p.Tyr27Ter)
n.271T>G
n.258T>G
20g.46725109G>ACA409266288SLC2A10c.73G>A (p.Glu25Lys)
n.225G>A
c.136G>A (p.Glu46Lys)
c.82G>A (p.Glu28Lys)
n.272G>A
n.259G>A
20g.46725109G>CCA409266289SLC2A10c.73G>C (p.Glu25Gln)
n.225G>C
c.136G>C (p.Glu46Gln)
c.82G>C (p.Glu28Gln)
n.272G>C
n.259G>C
20g.46725109G=CA2366796039SLC2A10c.73G= (p.Glu25=)
n.225G=
c.136G= (p.Glu46=)
c.82G= (p.Glu28=)
n.272G=
n.259G=
20g.46725109G>TCA409266290SLC2A10c.73G>T (p.Glu25Ter)
n.225G>T
c.136G>T (p.Glu46Ter)
c.82G>T (p.Glu28Ter)
n.272G>T
n.259G>T
 dbSNP gnomAD v3 gnomAD v4
20g.46725110A=CA2366796040SLC2A10c.74A= (p.Glu25=)
n.226A=
c.137A= (p.Glu46=)
c.83A= (p.Glu28=)
n.273A=
n.260A=
20g.46725110A>CCA9891908SLC2A10c.74A>C (p.Glu25Ala)
n.226A>C
c.137A>C (p.Glu46Ala)
c.83A>C (p.Glu28Ala)
n.273A>C
n.260A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725110A>GCA409266291SLC2A10c.74A>G (p.Glu25Gly)
n.226A>G
c.137A>G (p.Glu46Gly)
c.83A>G (p.Glu28Gly)
n.273A>G
n.260A>G
20g.46725110A>TCA409266292SLC2A10c.74A>T (p.Glu25Val)
n.226A>T
c.137A>T (p.Glu46Val)
c.83A>T (p.Glu28Val)
n.273A>T
n.260A>T
20g.46725111A>CCA409266294SLC2A10c.75A>C (p.Glu25Asp)
n.227A>C
c.138A>C (p.Glu46Asp)
c.84A>C (p.Glu28Asp)
n.274A>C
n.261A>C
20g.46725111A>GCA510770854SLC2A10c.75A>G (p.Glu25=)
n.227A>G
c.138A>G (p.Glu46=)
c.84A>G (p.Glu28=)
n.274A>G
n.261A>G
20g.46725111A>TCA409266293SLC2A10c.75A>T (p.Glu25Asp)
n.227A>T
c.138A>T (p.Glu46Asp)
c.84A>T (p.Glu28Asp)
n.274A>T
n.261A>T
20g.46725112C>ACA409266295SLC2A10c.76C>A (p.Leu26Met)
n.228C>A
c.139C>A (p.Leu47Met)
c.85C>A (p.Leu29Met)
n.275C>A
n.262C>A
20g.46725112C>GCA409266296SLC2A10c.76C>G (p.Leu26Val)
n.228C>G
c.139C>G (p.Leu47Val)
c.85C>G (p.Leu29Val)
n.275C>G
n.262C>G
20g.46725112C>TCA510770855SLC2A10c.76C>T (p.Leu26=)
n.228C>T
c.139C>T (p.Leu47=)
c.85C>T (p.Leu29=)
n.275C>T
n.262C>T
 gnomAD v4
20g.46725113T>ACA409266297SLC2A10c.77T>A (p.Leu26Gln)
n.229T>A
c.140T>A (p.Leu47Gln)
c.86T>A (p.Leu29Gln)
n.276T>A
n.263T>A
20g.46725113T>CCA409266298SLC2A10c.77T>C (p.Leu26Pro)
n.229T>C
c.140T>C (p.Leu47Pro)
c.86T>C (p.Leu29Pro)
n.276T>C
n.263T>C
20g.46725113T>GCA409266299SLC2A10c.77T>G (p.Leu26Arg)
n.229T>G
c.140T>G (p.Leu47Arg)
c.86T>G (p.Leu29Arg)
n.276T>G
n.263T>G
20g.46725114G>ACA510770859SLC2A10c.78G>A (p.Leu26=)
n.230G>A
c.141G>A (p.Leu47=)
c.87G>A (p.Leu29=)
n.277G>A
n.264G>A
 dbSNP gnomAD v2 gnomAD v4
20g.46725114G>CCA510770860SLC2A10c.78G>C (p.Leu26=)
n.230G>C
c.141G>C (p.Leu47=)
c.87G>C (p.Leu29=)
n.277G>C
n.264G>C
20g.46725114G=CA2366796041SLC2A10c.78G= (p.Leu26=)
n.230G=
c.141G= (p.Leu47=)
c.87G= (p.Leu29=)
n.277G=
n.264G=
20g.46725114G>TCA9891909SLC2A10c.78G>T (p.Leu26=)
n.230G>T
c.141G>T (p.Leu47=)
c.87G>T (p.Leu29=)
n.277G>T
n.264G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725115G>ACA409266300SLC2A10c.79G>A (p.Ala27Thr)
n.231G>A
c.142G>A (p.Ala48Thr)
c.88G>A (p.Ala30Thr)
n.278G>A
n.265G>A
20g.46725115G>CCA409266302SLC2A10c.79G>C (p.Ala27Pro)
n.231G>C
c.142G>C (p.Ala48Pro)
c.88G>C (p.Ala30Pro)
n.278G>C
n.265G>C
20g.46725115G>TCA409266301SLC2A10c.79G>T (p.Ala27Ser)
n.231G>T
c.142G>T (p.Ala48Ser)
c.88G>T (p.Ala30Ser)
n.278G>T
n.265G>T
20g.46725116C>ACA409266303SLC2A10c.80C>A (p.Ala27Glu)
n.232C>A
c.143C>A (p.Ala48Glu)
c.89C>A (p.Ala30Glu)
n.279C>A
n.266C>A
20g.46725116C>GCA409266304SLC2A10c.80C>G (p.Ala27Gly)
n.232C>G
c.143C>G (p.Ala48Gly)
c.89C>G (p.Ala30Gly)
n.279C>G
n.266C>G
20g.46725116C>TCA409266305SLC2A10c.80C>T (p.Ala27Val)
n.232C>T
c.143C>T (p.Ala48Val)
c.89C>T (p.Ala30Val)
n.279C>T
n.266C>T
20g.46725117A>CCA510770864SLC2A10c.81A>C (p.Ala27=)
n.233A>C
c.144A>C (p.Ala48=)
c.90A>C (p.Ala30=)
n.280A>C
n.267A>C
20g.46725117A>GCA510770865SLC2A10c.81A>G (p.Ala27=)
n.233A>G
c.144A>G (p.Ala48=)
c.90A>G (p.Ala30=)
n.280A>G
n.267A>G
20g.46725117A>TCA510770866SLC2A10c.81A>T (p.Ala27=)
n.233A>T
c.144A>T (p.Ala48=)
c.90A>T (p.Ala30=)
n.280A>T
n.267A>T
20g.46725118G>ACA409266306SLC2A10c.82G>A (p.Val28Ile)
n.234G>A
c.145G>A (p.Val49Ile)
c.91G>A (p.Val31Ile)
n.281G>A
n.268G>A
 ClinVar gnomAD v4
20g.46725118G>CCA409266307SLC2A10c.82G>C (p.Val28Leu)
n.234G>C
c.145G>C (p.Val49Leu)
c.91G>C (p.Val31Leu)
n.281G>C
n.268G>C
20g.46725118G>TCA409266308SLC2A10c.82G>T (p.Val28Phe)
n.234G>T
c.145G>T (p.Val49Phe)
c.91G>T (p.Val31Phe)
n.281G>T
n.268G>T
20g.46725119T>ACA409266309SLC2A10c.83T>A (p.Val28Asp)
n.235T>A
c.146T>A (p.Val49Asp)
c.92T>A (p.Val31Asp)
n.282T>A
n.269T>A
20g.46725119T>CCA409266310SLC2A10c.83T>C (p.Val28Ala)
n.235T>C
c.146T>C (p.Val49Ala)
c.92T>C (p.Val31Ala)
n.282T>C
n.269T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46725119T>GCA409266311SLC2A10c.83T>G (p.Val28Gly)
n.235T>G
c.146T>G (p.Val49Gly)
c.92T>G (p.Val31Gly)
n.282T>G
n.269T>G
 dbSNP gnomAD v2 gnomAD v4
20g.46725119T=CA2366796042SLC2A10c.83T= (p.Val28=)
n.235T=
c.146T= (p.Val49=)
c.92T= (p.Val31=)
n.282T=
n.269T=
20g.46725122_46725126dupCA2653170731SLC2A10c.86_90dup (p.Gly31TyrfsTer14)
n.238_242dup
c.149_153dup (p.Gly52TyrfsTer14)
c.95_99dup (p.Gly34TyrfsTer14)
n.285_289dup
n.272_276dup
 gnomAD v4
20g.46725120C>ACA510770869SLC2A10c.84C>A (p.Val28=)
n.236C>A
c.147C>A (p.Val49=)
c.93C>A (p.Val31=)
n.283C>A
n.270C>A
20g.46725120C>GCA510770870SLC2A10c.84C>G (p.Val28=)
n.236C>G
c.147C>G (p.Val49=)
c.93C>G (p.Val31=)
n.283C>G
n.270C>G
20g.46725120C>TCA510770871SLC2A10c.84C>T (p.Val28=)
n.236C>T
c.147C>T (p.Val49=)
c.93C>T (p.Val31=)
n.283C>T
n.270C>T
20g.46725121A=CA2366796043SLC2A10c.85A= (p.Ile29=)
n.237A=
c.148A= (p.Ile50=)
c.94A= (p.Ile32=)
n.284A=
n.271A=
20g.46725121A>CCA9891910SLC2A10c.85A>C (p.Ile29Leu)
n.237A>C
c.148A>C (p.Ile50Leu)
c.94A>C (p.Ile32Leu)
n.284A>C
n.271A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46725121A>GCA409266312SLC2A10c.85A>G (p.Ile29Val)
n.237A>G
c.148A>G (p.Ile50Val)
c.94A>G (p.Ile32Val)
n.284A>G
n.271A>G
20g.46725121A>TCA409266313SLC2A10c.85A>T (p.Ile29Leu)
n.237A>T
c.148A>T (p.Ile50Leu)
c.94A>T (p.Ile32Leu)
n.284A>T
n.271A>T
20g.46725122T>ACA409266314SLC2A10c.86T>A (p.Ile29Lys)
n.238T>A
c.149T>A (p.Ile50Lys)
c.95T>A (p.Ile32Lys)
n.285T>A
n.272T>A
20g.46725122T>CCA409266315SLC2A10c.86T>C (p.Ile29Thr)
n.238T>C
c.149T>C (p.Ile50Thr)
c.95T>C (p.Ile32Thr)
n.285T>C
n.272T>C
20g.46725122T>GCA9891911SLC2A10c.86T>G (p.Ile29Arg)
n.238T>G
c.149T>G (p.Ile50Arg)
c.95T>G (p.Ile32Arg)
n.285T>G
n.272T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725122T=CA2366796044SLC2A10c.86T= (p.Ile29=)
n.238T=
c.149T= (p.Ile50=)
c.95T= (p.Ile32=)
n.285T=
n.272T=
20g.46725123A=CA2366796045SLC2A10c.87A= (p.Ile29=)
n.239A=
c.150A= (p.Ile50=)
c.96A= (p.Ile32=)
n.286A=
n.273A=
20g.46725123A>CCA510770873SLC2A10c.87A>C (p.Ile29=)
n.239A>C
c.150A>C (p.Ile50=)
c.96A>C (p.Ile32=)
n.286A>C
n.273A>C
20g.46725123A>GCA409266316SLC2A10c.87A>G (p.Ile29Met)
n.239A>G
c.150A>G (p.Ile50Met)
c.96A>G (p.Ile32Met)
n.286A>G
n.273A>G
 dbSNP
20g.46725123A>TCA510770874SLC2A10c.87A>T (p.Ile29=)
n.239A>T
c.150A>T (p.Ile50=)
c.96A>T (p.Ile32=)
n.286A>T
n.273A>T
20g.46725124T>ACA409266317SLC2A10c.88T>A (p.Ser30Thr)
n.240T>A
c.151T>A (p.Ser51Thr)
c.97T>A (p.Ser33Thr)
n.287T>A
n.274T>A
20g.46725124T>CCA409266318SLC2A10c.88T>C (p.Ser30Pro)
n.240T>C
c.151T>C (p.Ser51Pro)
c.97T>C (p.Ser33Pro)
n.287T>C
n.274T>C
20g.46725124T>GCA409266319SLC2A10c.88T>G (p.Ser30Ala)
n.240T>G
c.151T>G (p.Ser51Ala)
c.97T>G (p.Ser33Ala)
n.287T>G
n.274T>G
20g.46725125C>ACA409266320SLC2A10c.89C>A (p.Ser30Ter)
n.241C>A
c.152C>A (p.Ser51Ter)
c.98C>A (p.Ser33Ter)
n.288C>A
n.275C>A
20g.46725125C>GCA409266321SLC2A10c.89C>G (p.Ser30Ter)
n.241C>G
c.152C>G (p.Ser51Ter)
c.98C>G (p.Ser33Ter)
n.288C>G
n.275C>G
20g.46725125C>TCA409266322SLC2A10c.89C>T (p.Ser30Leu)
n.241C>T
c.152C>T (p.Ser51Leu)
c.98C>T (p.Ser33Leu)
n.288C>T
n.275C>T
20g.46725126A=CA2366796046SLC2A10c.90A= (p.Ser30=)
n.242A=
c.153A= (p.Ser51=)
c.99A= (p.Ser33=)
n.289A=
n.276A=
20g.46725126A>CCA510770876SLC2A10c.90A>C (p.Ser30=)
n.242A>C
c.153A>C (p.Ser51=)
c.99A>C (p.Ser33=)
n.289A>C
n.276A>C
20g.46725126A>GCA510770877SLC2A10c.90A>G (p.Ser30=)
n.242A>G
c.153A>G (p.Ser51=)
c.99A>G (p.Ser33=)
n.289A>G
n.276A>G
 dbSNP gnomAD v2
20g.46725126A>TCA510770878SLC2A10c.90A>T (p.Ser30=)
n.242A>T
c.153A>T (p.Ser51=)
c.99A>T (p.Ser33=)
n.289A>T
n.276A>T
20g.46725127G>ACA409266323SLC2A10c.91G>A (p.Gly31Ser)
n.243G>A
c.154G>A (p.Gly52Ser)
c.100G>A (p.Gly34Ser)
n.290G>A
n.277G>A
20g.46725127G>CCA409266324SLC2A10c.91G>C (p.Gly31Arg)
n.243G>C
c.154G>C (p.Gly52Arg)
c.100G>C (p.Gly34Arg)
n.290G>C
n.277G>C
20g.46725127G>TCA409266325SLC2A10c.91G>T (p.Gly31Cys)
n.243G>T
c.154G>T (p.Gly52Cys)
c.100G>T (p.Gly34Cys)
n.290G>T
n.277G>T
20g.46725128G>ACA409266326SLC2A10c.92G>A (p.Gly31Asp)
n.244G>A
c.155G>A (p.Gly52Asp)
c.101G>A (p.Gly34Asp)
n.291G>A
n.278G>A
 dbSNP
20g.46725128G>CCA409266327SLC2A10c.92G>C (p.Gly31Ala)
n.244G>C
c.155G>C (p.Gly52Ala)
c.101G>C (p.Gly34Ala)
n.291G>C
n.278G>C
20g.46725128G=CA2366796047SLC2A10c.92G= (p.Gly31=)
n.244G=
c.155G= (p.Gly52=)
c.101G= (p.Gly34=)
n.291G=
n.278G=
20g.46725128G>TCA409266328SLC2A10c.92G>T (p.Gly31Val)
n.244G>T
c.155G>T (p.Gly52Val)
c.101G>T (p.Gly34Val)
n.291G>T
n.278G>T
20g.46725129delCA2653170732SLC2A10c.93del (p.Ala32ProfsTer11)
n.245del
c.156del (p.Ala53ProfsTer11)
c.102del (p.Ala35ProfsTer11)
n.292del
n.279del
 gnomAD v4
20g.46725129T>ACA510770883SLC2A10c.93T>A (p.Gly31=)
n.245T>A
c.156T>A (p.Gly52=)
c.102T>A (p.Gly34=)
n.292T>A
n.279T>A
20g.46725129T>CCA510770884SLC2A10c.93T>C (p.Gly31=)
n.245T>C
c.156T>C (p.Gly52=)
c.102T>C (p.Gly34=)
n.292T>C
n.279T>C
 gnomAD v4
20g.46725129T>GCA510770885SLC2A10c.93T>G (p.Gly31=)
n.245T>G
c.156T>G (p.Gly52=)
c.102T>G (p.Gly34=)
n.292T>G
n.279T>G
20g.46725130G>ACA409266329SLC2A10c.94G>A (p.Ala32Thr)
n.246G>A
c.157G>A (p.Ala53Thr)
c.103G>A (p.Ala35Thr)
n.293G>A
n.280G>A
 COSMIC
20g.46725130G>CCA409266331SLC2A10c.94G>C (p.Ala32Pro)
n.246G>C
c.157G>C (p.Ala53Pro)
c.103G>C (p.Ala35Pro)
n.293G>C
n.280G>C
20g.46725130G>TCA409266330SLC2A10c.94G>T (p.Ala32Ser)
n.246G>T
c.157G>T (p.Ala53Ser)
c.103G>T (p.Ala35Ser)
n.293G>T
n.280G>T
20g.46725131C>ACA409266332SLC2A10c.95C>A (p.Ala32Asp)
n.247C>A
c.158C>A (p.Ala53Asp)
c.104C>A (p.Ala35Asp)
n.294C>A
n.281C>A
20g.46725131C=CA2366796048SLC2A10c.95C= (p.Ala32=)
n.247C=
c.158C= (p.Ala53=)
c.104C= (p.Ala35=)
n.294C=
n.281C=
20g.46725131C>GCA409266333SLC2A10c.95C>G (p.Ala32Gly)
n.247C>G
c.158C>G (p.Ala53Gly)
c.104C>G (p.Ala35Gly)
n.294C>G
n.281C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.46725131C>TCA409266334SLC2A10c.95C>T (p.Ala32Val)
n.247C>T
c.158C>T (p.Ala53Val)
c.104C>T (p.Ala35Val)
n.294C>T
n.281C>T
 dbSNP gnomAD v4
20g.46725132C>ACA510770887SLC2A10c.96C>A (p.Ala32=)
n.248C>A
c.159C>A (p.Ala53=)
c.105C>A (p.Ala35=)
n.295C>A
n.282C>A
20g.46725132C=CA2366796049SLC2A10c.96C= (p.Ala32=)
n.248C=
c.159C= (p.Ala53=)
c.105C= (p.Ala35=)
n.295C=
n.282C=
20g.46725132C>GCA510770888SLC2A10c.96C>G (p.Ala32=)
n.248C>G
c.159C>G (p.Ala53=)
c.105C>G (p.Ala35=)
n.295C>G
n.282C>G
 dbSNP
20g.46725132C>TCA9891912SLC2A10c.96C>T (p.Ala32=)
n.248C>T
c.159C>T (p.Ala53=)
c.105C>T (p.Ala35=)
n.295C>T
n.282C>T
 dbSNP ExAC gnomAD v2
20g.46725133C>ACA409266335SLC2A10c.97C>A (p.Leu33Met)
n.249C>A
c.160C>A (p.Leu54Met)
c.106C>A (p.Leu36Met)
n.296C>A
n.283C>A
20g.46725133C>GCA409266336SLC2A10c.97C>G (p.Leu33Val)
n.249C>G
c.160C>G (p.Leu54Val)
c.106C>G (p.Leu36Val)
n.296C>G
n.283C>G
20g.46725133C>TCA510770891SLC2A10c.97C>T (p.Leu33=)
n.249C>T
c.160C>T (p.Leu54=)
c.106C>T (p.Leu36=)
n.296C>T
n.283C>T
20g.46725134T>ACA409266337SLC2A10c.98T>A (p.Leu33Gln)
n.250T>A
c.161T>A (p.Leu54Gln)
c.107T>A (p.Leu36Gln)
n.297T>A
n.284T>A
20g.46725134T>CCA409266338SLC2A10c.98T>C (p.Leu33Pro)
n.250T>C
c.161T>C (p.Leu54Pro)
c.107T>C (p.Leu36Pro)
n.297T>C
n.284T>C
 gnomAD v4
20g.46725134T>GCA409266339SLC2A10c.98T>G (p.Leu33Arg)
n.250T>G
c.161T>G (p.Leu54Arg)
c.107T>G (p.Leu36Arg)
n.297T>G
n.284T>G
20g.46725135G>ACA510770893SLC2A10c.99G>A (p.Leu33=)
n.251G>A
c.162G>A (p.Leu54=)
c.108G>A (p.Leu36=)
n.298G>A
n.285G>A
 gnomAD v4
20g.46725135G>CCA510770895SLC2A10c.99G>C (p.Leu33=)
n.251G>C
c.162G>C (p.Leu54=)
c.108G>C (p.Leu36=)
n.298G>C
n.285G>C
 dbSNP gnomAD v2 gnomAD v4
20g.46725135G=CA2366796050SLC2A10c.99G= (p.Leu33=)
n.251G=
c.162G= (p.Leu54=)
c.108G= (p.Leu36=)
n.298G=
n.285G=
20g.46725135G>TCA510770896SLC2A10c.99G>T (p.Leu33=)
n.251G>T
c.162G>T (p.Leu54=)
c.108G>T (p.Leu36=)
n.298G>T
n.285G>T
20g.46725136C>ACA409266340SLC2A10c.100C>A (p.Leu34Met)
n.252C>A
c.163C>A (p.Leu55Met)
c.109C>A (p.Leu37Met)
n.299C>A
n.286C>A
20g.46725136C>GCA409266341SLC2A10c.100C>G (p.Leu34Val)
n.252C>G
c.163C>G (p.Leu55Val)
c.109C>G (p.Leu37Val)
n.299C>G
n.286C>G
20g.46725136C>TCA510770900SLC2A10c.100C>T (p.Leu34=)
n.252C>T
c.163C>T (p.Leu55=)
c.109C>T (p.Leu37=)
n.299C>T
n.286C>T
 COSMIC
20g.46725137T>ACA409266343SLC2A10c.101T>A (p.Leu34Gln)
n.253T>A
c.164T>A (p.Leu55Gln)
c.110T>A (p.Leu37Gln)
n.300T>A
n.287T>A
20g.46725137T>CCA409266344SLC2A10c.101T>C (p.Leu34Pro)
n.253T>C
c.164T>C (p.Leu55Pro)
c.110T>C (p.Leu37Pro)
n.300T>C
n.287T>C
20g.46725137T>GCA409266342SLC2A10c.101T>G (p.Leu34Arg)
n.253T>G
c.164T>G (p.Leu55Arg)
c.110T>G (p.Leu37Arg)
n.300T>G
n.287T>G
20g.46725138G>ACA510770902SLC2A10c.102G>A (p.Leu34=)
n.254G>A
c.165G>A (p.Leu55=)
c.111G>A (p.Leu37=)
n.301G>A
n.288G>A
 gnomAD v4
20g.46725138G>CCA510770903SLC2A10c.102G>C (p.Leu34=)
n.254G>C
c.165G>C (p.Leu55=)
c.111G>C (p.Leu37=)
n.301G>C
n.288G>C
20g.46725138G>TCA510770904SLC2A10c.102G>T (p.Leu34=)
n.254G>T
c.165G>T (p.Leu55=)
c.111G>T (p.Leu37=)
n.301G>T
n.288G>T
20g.46725139C>ACA409266347SLC2A10c.103C>A (p.Pro35Thr)
n.255C>A
c.166C>A (p.Pro56Thr)
c.112C>A (p.Pro38Thr)
n.302C>A
n.289C>A
20g.46725139C=CA2366796051SLC2A10c.103C= (p.Pro35=)
n.255C=
c.166C= (p.Pro56=)
c.112C= (p.Pro38=)
n.302C=
n.289C=
20g.46725139C>GCA409266345SLC2A10c.103C>G (p.Pro35Ala)
n.255C>G
c.166C>G (p.Pro56Ala)
c.112C>G (p.Pro38Ala)
n.302C>G
n.289C>G
20g.46725139C>TCA409266346SLC2A10c.103C>T (p.Pro35Ser)
n.255C>T
c.166C>T (p.Pro56Ser)
c.112C>T (p.Pro38Ser)
n.302C>T
n.289C>T
 dbSNP
20g.46725140C>ACA409266348SLC2A10c.104C>A (p.Pro35Gln)
n.256C>A
c.167C>A (p.Pro56Gln)
c.113C>A (p.Pro38Gln)
n.303C>A
n.290C>A
20g.46725140C=CA2366796052SLC2A10c.104C= (p.Pro35=)
n.256C=
c.167C= (p.Pro56=)
c.113C= (p.Pro38=)
n.303C=
n.290C=
20g.46725140C>GCA409266349SLC2A10c.104C>G (p.Pro35Arg)
n.256C>G
c.167C>G (p.Pro56Arg)
c.113C>G (p.Pro38Arg)
n.303C>G
n.290C>G
20g.46725140C>TCA9891913SLC2A10c.104C>T (p.Pro35Leu)
n.256C>T
c.167C>T (p.Pro56Leu)
c.113C>T (p.Pro38Leu)
n.303C>T
n.290C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725141A>CCA510770906SLC2A10c.105A>C (p.Pro35=)
n.257A>C
c.168A>C (p.Pro56=)
c.114A>C (p.Pro38=)
n.304A>C
n.291A>C
20g.46725141A>GCA510770907SLC2A10c.105A>G (p.Pro35=)
n.257A>G
c.168A>G (p.Pro56=)
c.114A>G (p.Pro38=)
n.304A>G
n.291A>G
20g.46725141A>TCA510770908SLC2A10c.105A>T (p.Pro35=)
n.257A>T
c.168A>T (p.Pro56=)
c.114A>T (p.Pro38=)
n.304A>T
n.291A>T
20g.46725141dupCA2816531377SLC2A10c.105dup (p.Leu36ThrfsTer4)
n.257dup
c.168dup (p.Leu57ThrfsTer4)
c.114dup (p.Leu39ThrfsTer4)
n.304dup
n.291dup
20g.46725142C>ACA409266350SLC2A10c.106C>A (p.Leu36Met)
n.258C>A
c.169C>A (p.Leu57Met)
c.115C>A (p.Leu39Met)
n.305C>A
n.292C>A
 COSMIC
20g.46725142C>GCA409266351SLC2A10c.106C>G (p.Leu36Val)
n.258C>G
c.169C>G (p.Leu57Val)
c.115C>G (p.Leu39Val)
n.305C>G
n.292C>G
20g.46725142C>TCA510770909SLC2A10c.106C>T (p.Leu36=)
n.258C>T
c.169C>T (p.Leu57=)
c.115C>T (p.Leu39=)
n.305C>T
n.292C>T
 gnomAD v4
20g.46725143T>ACA409266352SLC2A10c.107T>A (p.Leu36Gln)
n.259T>A
c.170T>A (p.Leu57Gln)
c.116T>A (p.Leu39Gln)
n.306T>A
n.293T>A
20g.46725143T>CCA409266353SLC2A10c.107T>C (p.Leu36Pro)
n.259T>C
c.170T>C (p.Leu57Pro)
c.116T>C (p.Leu39Pro)
n.306T>C
n.293T>C
20g.46725143T>GCA409266354SLC2A10c.107T>G (p.Leu36Arg)
n.259T>G
c.170T>G (p.Leu57Arg)
c.116T>G (p.Leu39Arg)
n.306T>G
n.293T>G
20g.46725144G>ACA510770913SLC2A10c.108G>A (p.Leu36=)
n.260G>A
c.171G>A (p.Leu57=)
c.117G>A (p.Leu39=)
n.307G>A
n.294G>A
20g.46725144G>CCA510770914SLC2A10c.108G>C (p.Leu36=)
n.260G>C
c.171G>C (p.Leu57=)
c.117G>C (p.Leu39=)
n.307G>C
n.294G>C
20g.46725144G>TCA510770915SLC2A10c.108G>T (p.Leu36=)
n.260G>T
c.171G>T (p.Leu57=)
c.117G>T (p.Leu39=)
n.307G>T
n.294G>T
20g.46725145C>ACA409266355SLC2A10c.109C>A (p.Gln37Lys)
n.261C>A
c.172C>A (p.Gln58Lys)
c.118C>A (p.Gln40Lys)
n.308C>A
n.295C>A
 gnomAD v4
20g.46725145C>GCA409266356SLC2A10c.109C>G (p.Gln37Glu)
n.261C>G
c.172C>G (p.Gln58Glu)
c.118C>G (p.Gln40Glu)
n.308C>G
n.295C>G
20g.46725145C>TCA409266357SLC2A10c.109C>T (p.Gln37Ter)
n.261C>T
c.172C>T (p.Gln58Ter)
c.118C>T (p.Gln40Ter)
n.308C>T
n.295C>T
 gnomAD v4
20g.46725145_46725157delinsCAGCTTGACTTTGCA2366796053SLC2A10c.109_121delinsCAGCTTGACTTTG (p.Gln37=)
n.261_273delinsCAGCTTGACTTTG
c.172_184delinsCAGCTTGACTTTG (p.Gln58=)
c.118_130delinsCAGCTTGACTTTG (p.Gln40=)
n.308_320delinsCAGCTTGACTTTG
n.295_307delinsCAGCTTGACTTTG
20g.46725146A>CCA409266360SLC2A10c.110A>C (p.Gln37Pro)
n.262A>C
c.173A>C (p.Gln58Pro)
c.119A>C (p.Gln40Pro)
n.309A>C
n.296A>C
20g.46725146A>GCA409266358SLC2A10c.110A>G (p.Gln37Arg)
n.262A>G
c.173A>G (p.Gln58Arg)
c.119A>G (p.Gln40Arg)
n.309A>G
n.296A>G
20g.46725146A>TCA409266359SLC2A10c.110A>T (p.Gln37Leu)
n.262A>T
c.173A>T (p.Gln58Leu)
c.119A>T (p.Gln40Leu)
n.309A>T
n.296A>T
20g.46725146_46725157delCA9891914SLC2A10c.110_121del (p.Gln37_Gly41delinsArg)
n.262_273del
c.173_184del (p.Gln58_Gly62delinsArg)
c.119_130del (p.Gln40_Gly44delinsArg)
n.309_320del
n.296_307del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46725147G>ACA510770919SLC2A10c.111G>A (p.Gln37=)
n.263G>A
c.174G>A (p.Gln58=)
c.120G>A (p.Gln40=)
n.310G>A
n.297G>A
20g.46725147G>CCA409266361SLC2A10c.111G>C (p.Gln37His)
n.263G>C
c.174G>C (p.Gln58His)
c.120G>C (p.Gln40His)
n.310G>C
n.297G>C
20g.46725147G>TCA409266362SLC2A10c.111G>T (p.Gln37His)
n.263G>T
c.174G>T (p.Gln58His)
c.120G>T (p.Gln40His)
n.310G>T
n.297G>T
20g.46725148C>ACA409266363SLC2A10c.112C>A (p.Leu38Ile)
n.264C>A
c.175C>A (p.Leu59Ile)
c.121C>A (p.Leu41Ile)
n.311C>A
n.298C>A
20g.46725148C=CA2366796054SLC2A10c.112C= (p.Leu38=)
n.264C=
c.175C= (p.Leu59=)
c.121C= (p.Leu41=)
n.311C=
n.298C=
20g.46725148C>GCA409266364SLC2A10c.112C>G (p.Leu38Val)
n.264C>G
c.175C>G (p.Leu59Val)
c.121C>G (p.Leu41Val)
n.311C>G
n.298C>G
20g.46725148C>TCA409266365SLC2A10c.112C>T (p.Leu38Phe)
n.264C>T
c.175C>T (p.Leu59Phe)
c.121C>T (p.Leu41Phe)
n.311C>T
n.298C>T
 dbSNP gnomAD v3 gnomAD v4
20g.46725149T>ACA409266366SLC2A10c.113T>A (p.Leu38His)
n.265T>A
c.176T>A (p.Leu59His)
c.122T>A (p.Leu41His)
n.312T>A
n.299T>A
20g.46725149T>CCA409266367SLC2A10c.113T>C (p.Leu38Pro)
n.265T>C
c.176T>C (p.Leu59Pro)
c.122T>C (p.Leu41Pro)
n.312T>C
n.299T>C
20g.46725149T>GCA409266368SLC2A10c.113T>G (p.Leu38Arg)
n.265T>G
c.176T>G (p.Leu59Arg)
c.122T>G (p.Leu41Arg)
n.312T>G
n.299T>G
20g.46725150T>ACA510770920SLC2A10c.114T>A (p.Leu38=)
n.266T>A
c.177T>A (p.Leu59=)
c.123T>A (p.Leu41=)
n.313T>A
n.300T>A
20g.46725150T>CCA510770921SLC2A10c.114T>C (p.Leu38=)
n.266T>C
c.177T>C (p.Leu59=)
c.123T>C (p.Leu41=)
n.313T>C
n.300T>C
20g.46725150T>GCA510770922SLC2A10c.114T>G (p.Leu38=)
n.266T>G
c.177T>G (p.Leu59=)
c.123T>G (p.Leu41=)
n.313T>G
n.300T>G
 ClinVar dbSNP
20g.46725151G>ACA9891915SLC2A10c.115G>A (p.Asp39Asn)
n.267G>A
c.178G>A (p.Asp60Asn)
c.124G>A (p.Asp42Asn)
n.314G>A
n.301G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46725151G>CCA409266369SLC2A10c.115G>C (p.Asp39His)
n.267G>C
c.178G>C (p.Asp60His)
c.124G>C (p.Asp42His)
n.314G>C
n.301G>C
20g.46725151G=CA2366796055SLC2A10c.115G= (p.Asp39=)
n.267G=
c.178G= (p.Asp60=)
c.124G= (p.Asp42=)
n.314G=
n.301G=
20g.46725151G>TCA409266370SLC2A10c.115G>T (p.Asp39Tyr)
n.267G>T
c.178G>T (p.Asp60Tyr)
c.124G>T (p.Asp42Tyr)
n.314G>T
n.301G>T
20g.46725152A=CA2366796056SLC2A10c.116A= (p.Asp39=)
n.268A=
c.179A= (p.Asp60=)
c.125A= (p.Asp42=)
n.315A=
n.302A=
20g.46725152A>CCA409266372SLC2A10c.116A>C (p.Asp39Ala)
n.268A>C
c.179A>C (p.Asp60Ala)
c.125A>C (p.Asp42Ala)
n.315A>C
n.302A>C
20g.46725152A>GCA9891916SLC2A10c.116A>G (p.Asp39Gly)
n.268A>G
c.179A>G (p.Asp60Gly)
c.125A>G (p.Asp42Gly)
n.315A>G
n.302A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725152A>TCA409266371SLC2A10c.116A>T (p.Asp39Val)
n.268A>T
c.179A>T (p.Asp60Val)
c.125A>T (p.Asp42Val)
n.315A>T
n.302A>T
20g.46725153C>ACA409266373SLC2A10c.117C>A (p.Asp39Glu)
n.269C>A
c.180C>A (p.Asp60Glu)
c.126C>A (p.Asp42Glu)
n.316C>A
n.303C>A
20g.46725153C>GCA409266374SLC2A10c.117C>G (p.Asp39Glu)
n.269C>G
c.180C>G (p.Asp60Glu)
c.126C>G (p.Asp42Glu)
n.316C>G
n.303C>G
 gnomAD v4
20g.46725153C>TCA510847404SLC2A10c.117C>T (p.Asp39=)
n.269C>T
c.180C>T (p.Asp60=)
c.126C>T (p.Asp42=)
n.316C>T
n.303C>T
20g.46725155_46725161delCA2816531378SLC2A10c.119_125del (p.Phe40Ter)
n.271_277del
c.182_188del (p.Phe61Ter)
c.128_134del (p.Phe43Ter)
n.318_324del
n.305_311del
20g.46725154T>ACA409266375SLC2A10c.118T>A (p.Phe40Ile)
n.270T>A
c.181T>A (p.Phe61Ile)
c.127T>A (p.Phe43Ile)
n.317T>A
n.304T>A
20g.46725154T>CCA409266376SLC2A10c.118T>C (p.Phe40Leu)
n.270T>C
c.181T>C (p.Phe61Leu)
c.127T>C (p.Phe43Leu)
n.317T>C
n.304T>C
20g.46725154T>GCA409266377SLC2A10c.118T>G (p.Phe40Val)
n.270T>G
c.181T>G (p.Phe61Val)
c.127T>G (p.Phe43Val)
n.317T>G
n.304T>G
20g.46725155T>ACA409266378SLC2A10c.119T>A (p.Phe40Tyr)
n.271T>A
c.182T>A (p.Phe61Tyr)
c.128T>A (p.Phe43Tyr)
n.318T>A
n.305T>A
20g.46725155T>CCA9891917SLC2A10c.119T>C (p.Phe40Ser)
n.271T>C
c.182T>C (p.Phe61Ser)
c.128T>C (p.Phe43Ser)
n.318T>C
n.305T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46725155T>GCA409266379SLC2A10c.119T>G (p.Phe40Cys)
n.271T>G
c.182T>G (p.Phe61Cys)
c.128T>G (p.Phe43Cys)
n.318T>G
n.305T>G
20g.46725155T=CA2366796057SLC2A10c.119T= (p.Phe40=)
n.271T=
c.182T= (p.Phe61=)
c.128T= (p.Phe43=)
n.318T=
n.305T=
20g.46725156T>ACA409266380SLC2A10c.120T>A (p.Phe40Leu)
n.272T>A
c.183T>A (p.Phe61Leu)
c.129T>A (p.Phe43Leu)
n.319T>A
n.306T>A
20g.46725156T>CCA9891918SLC2A10c.120T>C (p.Phe40=)
n.272T>C
c.183T>C (p.Phe61=)
c.129T>C (p.Phe43=)
n.319T>C
n.306T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46725156T>GCA409266381SLC2A10c.120T>G (p.Phe40Leu)
n.272T>G
c.183T>G (p.Phe61Leu)
c.129T>G (p.Phe43Leu)
n.319T>G
n.306T>G
20g.46725156T=CA2366796058SLC2A10c.120T= (p.Phe40=)
n.272T=
c.183T= (p.Phe61=)
c.129T= (p.Phe43=)
n.319T=
n.306T=
20g.46725157G>ACA409266382SLC2A10c.121G>A (p.Gly41Arg)
n.273G>A
c.184G>A (p.Gly62Arg)
c.130G>A (p.Gly44Arg)
n.320G>A
n.307G>A
20g.46725157G>CCA409266383SLC2A10c.121G>C (p.Gly41Arg)
n.273G>C
c.184G>C (p.Gly62Arg)
c.130G>C (p.Gly44Arg)
n.320G>C
n.307G>C
20g.46725157G>TCA409266384SLC2A10c.121G>T (p.Gly41Trp)
n.273G>T
c.184G>T (p.Gly62Trp)
c.130G>T (p.Gly44Trp)
n.320G>T
n.307G>T
20g.46725158G>ACA409266387SLC2A10c.122G>A (p.Gly41Glu)
n.274G>A
c.185G>A (p.Gly62Glu)
c.131G>A (p.Gly44Glu)
n.321G>A
n.308G>A
 gnomAD v4
20g.46725158G>CCA409266386SLC2A10c.122G>C (p.Gly41Ala)
n.274G>C
c.185G>C (p.Gly62Ala)
c.131G>C (p.Gly44Ala)
n.321G>C
n.308G>C
20g.46725158G>TCA409266385SLC2A10c.122G>T (p.Gly41Val)
n.274G>T
c.185G>T (p.Gly62Val)
c.131G>T (p.Gly44Val)
n.321G>T
n.308G>T
20g.46725159G>ACA510847405SLC2A10c.123G>A (p.Gly41=)
n.275G>A
c.186G>A (p.Gly62=)
c.132G>A (p.Gly44=)
n.322G>A
n.309G>A
20g.46725159G>CCA510847407SLC2A10c.123G>C (p.Gly41=)
n.275G>C
c.186G>C (p.Gly62=)
c.132G>C (p.Gly44=)
n.322G>C
n.309G>C
20g.46725159G>TCA510847406SLC2A10c.123G>T (p.Gly41=)
n.275G>T
c.186G>T (p.Gly62=)
c.132G>T (p.Gly44=)
n.322G>T
n.309G>T
 gnomAD v4
20g.46725160C>ACA409266388SLC2A10c.124C>A (p.Leu42Ile)
n.276C>A
c.187C>A (p.Leu63Ile)
c.133C>A (p.Leu45Ile)
n.323C>A
n.310C>A
20g.46725160C=CA2366796059SLC2A10c.124C= (p.Leu42=)
n.276C=
c.187C= (p.Leu63=)
c.133C= (p.Leu45=)
n.323C=
n.310C=
20g.46725160C>GCA409266389SLC2A10c.124C>G (p.Leu42Val)
n.276C>G
c.187C>G (p.Leu63Val)
c.133C>G (p.Leu45Val)
n.323C>G
n.310C>G
20g.46725160C>TCA510847408SLC2A10c.124C>T (p.Leu42=)
n.276C>T
c.187C>T (p.Leu63=)
c.133C>T (p.Leu45=)
n.323C>T
n.310C>T
 dbSNP gnomAD v4
20g.46725161T>ACA409266390SLC2A10c.125T>A (p.Leu42Gln)
n.277T>A
c.188T>A (p.Leu63Gln)
c.134T>A (p.Leu45Gln)
n.324T>A
n.311T>A
20g.46725161T>CCA409266391SLC2A10c.125T>C (p.Leu42Pro)
n.277T>C
c.188T>C (p.Leu63Pro)
c.134T>C (p.Leu45Pro)
n.324T>C
n.311T>C
20g.46725161T>GCA409266392SLC2A10c.125T>G (p.Leu42Arg)
n.277T>G
c.188T>G (p.Leu63Arg)
c.134T>G (p.Leu45Arg)
n.324T>G
n.311T>G
20g.46725162A>CCA510847409SLC2A10c.126A>C (p.Leu42=)
n.278A>C
c.189A>C (p.Leu63=)
c.135A>C (p.Leu45=)
n.325A>C
n.312A>C
20g.46725162A>GCA510847410SLC2A10c.126A>G (p.Leu42=)
n.278A>G
c.189A>G (p.Leu63=)
c.135A>G (p.Leu45=)
n.325A>G
n.312A>G
20g.46725162A>TCA510847411SLC2A10c.126A>T (p.Leu42=)
n.278A>T
c.189A>T (p.Leu63=)
c.135A>T (p.Leu45=)
n.325A>T
n.312A>T
20g.46725163A>CCA409266393SLC2A10c.127A>C (p.Ser43Arg)
n.279A>C
c.190A>C (p.Ser64Arg)
c.136A>C (p.Ser46Arg)
n.326A>C
n.313A>C
20g.46725163A>GCA409266394SLC2A10c.127A>G (p.Ser43Gly)
n.279A>G
c.190A>G (p.Ser64Gly)
c.136A>G (p.Ser46Gly)
n.326A>G
n.313A>G
20g.46725163A>TCA409266395SLC2A10c.127A>T (p.Ser43Cys)
n.279A>T
c.190A>T (p.Ser64Cys)
c.136A>T (p.Ser46Cys)
n.326A>T
n.313A>T
20g.46725164G>ACA409266396SLC2A10c.128G>A (p.Ser43Asn)
n.280G>A
c.191G>A (p.Ser64Asn)
c.137G>A (p.Ser46Asn)
n.327G>A
n.314G>A
 dbSNP gnomAD v2 gnomAD v4
20g.46725164G>CCA409266397SLC2A10c.128G>C (p.Ser43Thr)
n.280G>C
c.191G>C (p.Ser64Thr)
c.137G>C (p.Ser46Thr)
n.327G>C
n.314G>C
20g.46725164G=CA2366796060SLC2A10c.128G= (p.Ser43=)
n.280G=
c.191G= (p.Ser64=)
c.137G= (p.Ser46=)
n.327G=
n.314G=
20g.46725164G>TCA409266398SLC2A10c.128G>T (p.Ser43Ile)
n.280G>T
c.191G>T (p.Ser64Ile)
c.137G>T (p.Ser46Ile)
n.327G>T
n.314G>T
20g.46725165C>ACA409266399SLC2A10c.129C>A (p.Ser43Arg)
n.281C>A
c.192C>A (p.Ser64Arg)
c.138C>A (p.Ser46Arg)
n.328C>A
n.315C>A
20g.46725165C=CA2366796061SLC2A10c.129C= (p.Ser43=)
n.281C=
c.192C= (p.Ser64=)
c.138C= (p.Ser46=)
n.328C=
n.315C=
20g.46725165C>GCA323447SLC2A10c.129C>G (p.Ser43Arg)
n.281C>G
c.192C>G (p.Ser64Arg)
c.138C>G (p.Ser46Arg)
n.328C>G
n.315C>G
 ClinVar dbSNP
20g.46725165C>TCA510847412SLC2A10c.129C>T (p.Ser43=)
n.281C>T
c.192C>T (p.Ser64=)
c.138C>T (p.Ser46=)
n.328C>T
n.315C>T
20g.46725166T>ACA409266400SLC2A10c.130T>A (p.Cys44Ser)
n.282T>A
c.193T>A (p.Cys65Ser)
c.139T>A (p.Cys47Ser)
n.329T>A
n.316T>A
20g.46725166T>CCA409266402SLC2A10c.130T>C (p.Cys44Arg)
n.282T>C
c.193T>C (p.Cys65Arg)
c.139T>C (p.Cys47Arg)
n.329T>C
n.316T>C
20g.46725166T>GCA409266401SLC2A10c.130T>G (p.Cys44Gly)
n.282T>G
c.193T>G (p.Cys65Gly)
c.139T>G (p.Cys47Gly)
n.329T>G
n.316T>G
20g.46725167G>ACA409266403SLC2A10c.131G>A (p.Cys44Tyr)
n.283G>A
c.194G>A (p.Cys65Tyr)
c.140G>A (p.Cys47Tyr)
n.330G>A
n.317G>A
20g.46725167G>CCA409266404SLC2A10c.131G>C (p.Cys44Ser)
n.283G>C
c.194G>C (p.Cys65Ser)
c.140G>C (p.Cys47Ser)
n.330G>C
n.317G>C
20g.46725167G=CA2366796062SLC2A10c.131G= (p.Cys44=)
n.283G=
c.194G= (p.Cys65=)
c.140G= (p.Cys47=)
n.330G=
n.317G=
20g.46725167G>TCA9891919SLC2A10c.131G>T (p.Cys44Phe)
n.283G>T
c.194G>T (p.Cys65Phe)
c.140G>T (p.Cys47Phe)
n.330G>T
n.317G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725168C>ACA409266405SLC2A10c.132C>A (p.Cys44Ter)
n.284C>A
c.195C>A (p.Cys65Ter)
c.141C>A (p.Cys47Ter)
n.331C>A
n.318C>A
20g.46725168C>GCA409266406SLC2A10c.132C>G (p.Cys44Trp)
n.284C>G
c.195C>G (p.Cys65Trp)
c.141C>G (p.Cys47Trp)
n.331C>G
n.318C>G
20g.46725168C>TCA510847413SLC2A10c.132C>T (p.Cys44=)
n.284C>T
c.195C>T (p.Cys65=)
c.141C>T (p.Cys47=)
n.331C>T
n.318C>T
 gnomAD v4
20g.46725169T>ACA409266407SLC2A10c.133T>A (p.Leu45Met)
n.285T>A
c.196T>A (p.Leu66Met)
c.142T>A (p.Leu48Met)
n.332T>A
n.319T>A
 gnomAD v4
20g.46725169T>CCA510847414SLC2A10c.133T>C (p.Leu45=)
n.285T>C
c.196T>C (p.Leu66=)
c.142T>C (p.Leu48=)
n.332T>C
n.319T>C
20g.46725169T>GCA409266408SLC2A10c.133T>G (p.Leu45Val)
n.285T>G
c.196T>G (p.Leu66Val)
c.142T>G (p.Leu48Val)
n.332T>G
n.319T>G
20g.46725170T>ACA409266409SLC2A10c.134T>A (p.Leu45Ter)
n.286T>A
c.197T>A (p.Leu66Ter)
c.143T>A (p.Leu48Ter)
n.333T>A
n.320T>A
20g.46725170T>CCA409266411SLC2A10c.134T>C (p.Leu45Ser)
n.286T>C
c.197T>C (p.Leu66Ser)
c.143T>C (p.Leu48Ser)
n.333T>C
n.320T>C
20g.46725170T>GCA409266410SLC2A10c.134T>G (p.Leu45Trp)
n.286T>G
c.197T>G (p.Leu66Trp)
c.143T>G (p.Leu48Trp)
n.333T>G
n.320T>G
20g.46725171G>ACA510847415SLC2A10c.135G>A (p.Leu45=)
n.287G>A
c.198G>A (p.Leu66=)
c.144G>A (p.Leu48=)
n.334G>A
n.321G>A
 dbSNP
20g.46725171G>CCA409266412SLC2A10c.135G>C (p.Leu45Phe)
n.287G>C
c.198G>C (p.Leu66Phe)
c.144G>C (p.Leu48Phe)
n.334G>C
n.321G>C
20g.46725171G=CA2366796063SLC2A10c.135G= (p.Leu45=)
n.287G=
c.198G= (p.Leu66=)
c.144G= (p.Leu48=)
n.334G=
n.321G=
20g.46725171G>TCA409266413SLC2A10c.135G>T (p.Leu45Phe)
n.287G>T
c.198G>T (p.Leu66Phe)
c.144G>T (p.Leu48Phe)
n.334G>T
n.321G>T
20g.46725172G>ACA409266414SLC2A10c.136G>A (p.Glu46Lys)
n.288G>A
c.199G>A (p.Glu67Lys)
c.145G>A (p.Glu49Lys)
n.335G>A
n.322G>A
20g.46725172G>CCA409266415SLC2A10c.136G>C (p.Glu46Gln)
n.288G>C
c.199G>C (p.Glu67Gln)
c.145G>C (p.Glu49Gln)
n.335G>C
n.322G>C
 dbSNP gnomAD v3 gnomAD v4
20g.46725172G=CA2366796064SLC2A10c.136G= (p.Glu46=)
n.288G=
c.199G= (p.Glu67=)
c.145G= (p.Glu49=)
n.335G=
n.322G=
20g.46725172G>TCA409266416SLC2A10c.136G>T (p.Glu46Ter)
n.288G>T
c.199G>T (p.Glu67Ter)
c.145G>T (p.Glu49Ter)
n.335G>T
n.322G>T
20g.46725173A=CA2366796065SLC2A10c.137A= (p.Glu46=)
n.289A=
c.200A= (p.Glu67=)
c.146A= (p.Glu49=)
n.336A=
n.323A=
20g.46725173A>CCA409266417SLC2A10c.137A>C (p.Glu46Ala)
n.289A>C
c.200A>C (p.Glu67Ala)
c.146A>C (p.Glu49Ala)
n.336A>C
n.323A>C
20g.46725173A>GCA9891920SLC2A10c.137A>G (p.Glu46Gly)
n.289A>G
c.200A>G (p.Glu67Gly)
c.146A>G (p.Glu49Gly)
n.336A>G
n.323A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725173A>TCA409266418SLC2A10c.137A>T (p.Glu46Val)
n.289A>T
c.200A>T (p.Glu67Val)
c.146A>T (p.Glu49Val)
n.336A>T
n.323A>T
20g.46725174G>ACA510847416SLC2A10c.138G>A (p.Glu46=)
n.290G>A
c.201G>A (p.Glu67=)
c.147G>A (p.Glu49=)
n.337G>A
n.324G>A
 gnomAD v4
20g.46725174G>CCA409266419SLC2A10c.138G>C (p.Glu46Asp)
n.290G>C
c.201G>C (p.Glu67Asp)
c.147G>C (p.Glu49Asp)
n.337G>C
n.324G>C
 gnomAD v4
20g.46725174G>TCA409266420SLC2A10c.138G>T (p.Glu46Asp)
n.290G>T
c.201G>T (p.Glu67Asp)
c.147G>T (p.Glu49Asp)
n.337G>T
n.324G>T
20g.46725175C>ACA409266421SLC2A10c.139C>A (p.Gln47Lys)
n.291C>A
c.202C>A (p.Gln68Lys)
c.148C>A (p.Gln50Lys)
n.338C>A
n.325C>A
20g.46725175C>GCA409266422SLC2A10c.139C>G (p.Gln47Glu)
n.291C>G
c.202C>G (p.Gln68Glu)
c.148C>G (p.Gln50Glu)
n.338C>G
n.325C>G
20g.46725175C>TCA409266423SLC2A10c.139C>T (p.Gln47Ter)
n.291C>T
c.202C>T (p.Gln68Ter)
c.148C>T (p.Gln50Ter)
n.338C>T
n.325C>T
20g.46725176A>CCA409266426SLC2A10c.140A>C (p.Gln47Pro)
n.292A>C
c.203A>C (p.Gln68Pro)
c.149A>C (p.Gln50Pro)
n.339A>C
n.326A>C
20g.46725176A>GCA409266424SLC2A10c.140A>G (p.Gln47Arg)
n.292A>G
c.203A>G (p.Gln68Arg)
c.149A>G (p.Gln50Arg)
n.339A>G
n.326A>G
20g.46725176A>TCA409266425SLC2A10c.140A>T (p.Gln47Leu)
n.292A>T
c.203A>T (p.Gln68Leu)
c.149A>T (p.Gln50Leu)
n.339A>T
n.326A>T
20g.46725177G>ACA315755159SLC2A10c.141G>A (p.Gln47=)
n.293G>A
c.204G>A (p.Gln68=)
c.150G>A (p.Gln50=)
n.340G>A
n.327G>A
 dbSNP gnomAD v4
20g.46725177G>CCA409266427SLC2A10c.141G>C (p.Gln47His)
n.293G>C
c.204G>C (p.Gln68His)
c.150G>C (p.Gln50His)
n.340G>C
n.327G>C
20g.46725177G=CA2366796066SLC2A10c.141G= (p.Gln47=)
n.293G=
c.204G= (p.Gln68=)
c.150G= (p.Gln50=)
n.340G=
n.327G=
20g.46725177G>TCA409266428SLC2A10c.141G>T (p.Gln47His)
n.293G>T
c.204G>T (p.Gln68His)
c.150G>T (p.Gln50His)
n.340G>T
n.327G>T
20g.46725178G>ACA409266429SLC2A10c.142G>A (p.Glu48Lys)
n.294G>A
c.205G>A (p.Glu69Lys)
c.151G>A (p.Glu51Lys)
n.341G>A
n.328G>A
20g.46725178G>CCA409266430SLC2A10c.142G>C (p.Glu48Gln)
n.294G>C
c.205G>C (p.Glu69Gln)
c.151G>C (p.Glu51Gln)
n.341G>C
n.328G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46725178G=CA2366796067SLC2A10c.142G= (p.Glu48=)
n.294G=
c.205G= (p.Glu69=)
c.151G= (p.Glu51=)
n.341G=
n.328G=
20g.46725178G>TCA409266431SLC2A10c.142G>T (p.Glu48Ter)
n.294G>T
c.205G>T (p.Glu69Ter)
c.151G>T (p.Glu51Ter)
n.341G>T
n.328G>T
20g.46725179A>CCA409266432SLC2A10c.143A>C (p.Glu48Ala)
n.295A>C
c.206A>C (p.Glu69Ala)
c.152A>C (p.Glu51Ala)
n.342A>C
n.329A>C
20g.46725179A>GCA409266433SLC2A10c.143A>G (p.Glu48Gly)
n.295A>G
c.206A>G (p.Glu69Gly)
c.152A>G (p.Glu51Gly)
n.342A>G
n.329A>G
20g.46725179A>TCA409266434SLC2A10c.143A>T (p.Glu48Val)
n.295A>T
c.206A>T (p.Glu69Val)
c.152A>T (p.Glu51Val)
n.342A>T
n.329A>T
 gnomAD v4
20g.46725180G>ACA10587932SLC2A10c.144G>A (p.Glu48=)
n.296G>A
c.207G>A (p.Glu69=)
c.153G>A (p.Glu51=)
n.343G>A
n.330G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46725180G>CCA409266435SLC2A10c.144G>C (p.Glu48Asp)
n.296G>C
c.207G>C (p.Glu69Asp)
c.153G>C (p.Glu51Asp)
n.343G>C
n.330G>C
20g.46725180G=CA2366796068SLC2A10c.144G= (p.Glu48=)
n.296G=
c.207G= (p.Glu69=)
c.153G= (p.Glu51=)
n.343G=
n.330G=
20g.46725180G>TCA315755165SLC2A10c.144G>T (p.Glu48Asp)
n.296G>T
c.207G>T (p.Glu69Asp)
c.153G>T (p.Glu51Asp)
n.343G>T
n.330G>T
 dbSNP gnomAD v4
20g.46725181T>ACA323587SLC2A10c.145T>A (p.Phe49Ile)
n.297T>A
c.208T>A (p.Phe70Ile)
c.154T>A (p.Phe52Ile)
n.344T>A
n.331T>A
 ClinVar dbSNP
20g.46725181T>CCA409266437SLC2A10c.145T>C (p.Phe49Leu)
n.297T>C
c.208T>C (p.Phe70Leu)
c.154T>C (p.Phe52Leu)
n.344T>C
n.331T>C
20g.46725181T>GCA409266436SLC2A10c.145T>G (p.Phe49Val)
n.297T>G
c.208T>G (p.Phe70Val)
c.154T>G (p.Phe52Val)
n.344T>G
n.331T>G
20g.46725181T=CA2366796069SLC2A10c.145T= (p.Phe49=)
n.297T=
c.208T= (p.Phe70=)
c.154T= (p.Phe52=)
n.344T=
n.331T=

Number of alleles fetched