Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.46725090T>A | CA9891906 | SLC2A10 | c.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 |
20 | g.46725090T>C | CA9891905 | SLC2A10 | c.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 |
20 | g.46725090T>G | CA510770828 | SLC2A10 | c.54T>G (p.Gly18=) n.206T>G c.117T>G (p.Gly39=) c.63T>G (p.Gly21=) n.253T>G n.240T>G | |
20 | g.46725090T= | CA2366796030 | SLC2A10 | c.54T= (p.Gly18=) n.206T= c.117T= (p.Gly39=) c.63T= (p.Gly21=) n.253T= n.240T= | |
20 | g.46725091G>A | CA409266253 | SLC2A10 | c.55G>A (p.Gly19Ser) n.207G>A c.118G>A (p.Gly40Ser) c.64G>A (p.Gly22Ser) n.254G>A n.241G>A | |
20 | g.46725091G>C | CA409266254 | SLC2A10 | c.55G>C (p.Gly19Arg) n.207G>C c.118G>C (p.Gly40Arg) c.64G>C (p.Gly22Arg) n.254G>C n.241G>C | |
20 | g.46725091G>T | CA409266255 | SLC2A10 | c.55G>T (p.Gly19Cys) n.207G>T c.118G>T (p.Gly40Cys) c.64G>T (p.Gly22Cys) n.254G>T n.241G>T | |
20 | g.46725092dup | CA2580615417 | SLC2A10 | c.56dup (p.Leu20ProfsTer6) n.208dup c.119dup (p.Leu41ProfsTer6) c.65dup (p.Leu23ProfsTer6) n.255dup n.242dup | ClinVar |
20 | g.46725092G>A | CA409266258 | SLC2A10 | c.56G>A (p.Gly19Asp) n.208G>A c.119G>A (p.Gly40Asp) c.65G>A (p.Gly22Asp) n.255G>A n.242G>A | |
20 | g.46725092G>C | CA409266257 | SLC2A10 | c.56G>C (p.Gly19Ala) n.208G>C c.119G>C (p.Gly40Ala) c.65G>C (p.Gly22Ala) n.255G>C n.242G>C | dbSNP |
20 | g.46725092G= | CA2366796031 | SLC2A10 | c.56G= (p.Gly19=) n.208G= c.119G= (p.Gly40=) c.65G= (p.Gly22=) n.255G= n.242G= | |
20 | g.46725092G>T | CA409266256 | SLC2A10 | c.56G>T (p.Gly19Val) n.208G>T c.119G>T (p.Gly40Val) c.65G>T (p.Gly22Val) n.255G>T n.242G>T | COSMIC |
20 | g.46725093C>A | CA510770832 | SLC2A10 | c.57C>A (p.Gly19=) n.209C>A c.120C>A (p.Gly40=) c.66C>A (p.Gly22=) n.256C>A n.243C>A | |
20 | g.46725093C= | CA2366796032 | SLC2A10 | c.57C= (p.Gly19=) n.209C= c.120C= (p.Gly40=) c.66C= (p.Gly22=) n.256C= n.243C= | |
20 | g.46725093C>G | CA510770833 | SLC2A10 | c.57C>G (p.Gly19=) n.209C>G c.120C>G (p.Gly40=) c.66C>G (p.Gly22=) n.256C>G n.243C>G | |
20 | g.46725093C>T | CA510770834 | SLC2A10 | c.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 |
20 | g.46725094C>A | CA409266259 | SLC2A10 | c.58C>A (p.Leu20Met) n.210C>A c.121C>A (p.Leu41Met) c.67C>A (p.Leu23Met) n.257C>A n.244C>A | |
20 | g.46725094C>G | CA409266260 | SLC2A10 | c.58C>G (p.Leu20Val) n.210C>G c.121C>G (p.Leu41Val) c.67C>G (p.Leu23Val) n.257C>G n.244C>G | |
20 | g.46725094C>T | CA510770835 | SLC2A10 | c.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 |
20 | g.46725095T>A | CA409266261 | SLC2A10 | c.59T>A (p.Leu20Gln) n.211T>A c.122T>A (p.Leu41Gln) c.68T>A (p.Leu23Gln) n.258T>A n.245T>A | |
20 | g.46725095T>C | CA409266262 | SLC2A10 | c.59T>C (p.Leu20Pro) n.211T>C c.122T>C (p.Leu41Pro) c.68T>C (p.Leu23Pro) n.258T>C n.245T>C | |
20 | g.46725095T>G | CA409266263 | SLC2A10 | c.59T>G (p.Leu20Arg) n.211T>G c.122T>G (p.Leu41Arg) c.68T>G (p.Leu23Arg) n.258T>G n.245T>G | |
20 | g.46725096G>A | CA510770837 | SLC2A10 | c.60G>A (p.Leu20=) n.212G>A c.123G>A (p.Leu41=) c.69G>A (p.Leu23=) n.259G>A n.246G>A | |
20 | g.46725096G>C | CA510770838 | SLC2A10 | c.60G>C (p.Leu20=) n.212G>C c.123G>C (p.Leu41=) c.69G>C (p.Leu23=) n.259G>C n.246G>C | |
20 | g.46725096G>T | CA510770839 | SLC2A10 | c.60G>T (p.Leu20=) n.212G>T c.123G>T (p.Leu41=) c.69G>T (p.Leu23=) n.259G>T n.246G>T | |
20 | g.46725097A= | CA2366796033 | SLC2A10 | c.61A= (p.Thr21=) n.213A= c.124A= (p.Thr42=) c.70A= (p.Thr24=) n.260A= n.247A= | |
20 | g.46725097A>C | CA409266266 | SLC2A10 | c.61A>C (p.Thr21Pro) n.213A>C c.124A>C (p.Thr42Pro) c.70A>C (p.Thr24Pro) n.260A>C n.247A>C | dbSNP |
20 | g.46725097A>G | CA409266265 | SLC2A10 | c.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 |
20 | g.46725097A>T | CA409266264 | SLC2A10 | c.61A>T (p.Thr21Ser) n.213A>T c.124A>T (p.Thr42Ser) c.70A>T (p.Thr24Ser) n.260A>T n.247A>T | |
20 | g.46725098C>A | CA409266267 | SLC2A10 | c.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 |
20 | g.46725098C>G | CA409266268 | SLC2A10 | c.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 |
20 | g.46725098C>T | CA409266269 | SLC2A10 | c.62C>T (p.Thr21Ile) n.214C>T c.125C>T (p.Thr42Ile) c.71C>T (p.Thr24Ile) n.261C>T n.248C>T | |
20 | g.46725099C>A | CA510770842 | SLC2A10 | c.63C>A (p.Thr21=) n.215C>A c.126C>A (p.Thr42=) c.72C>A (p.Thr24=) n.262C>A n.249C>A | |
20 | g.46725099C= | CA2366796034 | SLC2A10 | c.63C= (p.Thr21=) n.215C= c.126C= (p.Thr42=) c.72C= (p.Thr24=) n.262C= n.249C= | |
20 | g.46725099C>G | CA315755066 | SLC2A10 | c.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 |
20 | g.46725099C>T | CA510770841 | SLC2A10 | c.63C>T (p.Thr21=) n.215C>T c.126C>T (p.Thr42=) c.72C>T (p.Thr24=) n.262C>T n.249C>T | |
20 | g.46725100T>A | CA409266270 | SLC2A10 | c.64T>A (p.Phe22Ile) n.216T>A c.127T>A (p.Phe43Ile) c.73T>A (p.Phe25Ile) n.263T>A n.250T>A | |
20 | g.46725100T>C | CA409266271 | SLC2A10 | c.64T>C (p.Phe22Leu) n.216T>C c.127T>C (p.Phe43Leu) c.73T>C (p.Phe25Leu) n.263T>C n.250T>C | |
20 | g.46725100T>G | CA409266272 | SLC2A10 | c.64T>G (p.Phe22Val) n.216T>G c.127T>G (p.Phe43Val) c.73T>G (p.Phe25Val) n.263T>G n.250T>G | |
20 | g.46725101T>A | CA409266273 | SLC2A10 | c.65T>A (p.Phe22Tyr) n.217T>A c.128T>A (p.Phe43Tyr) c.74T>A (p.Phe25Tyr) n.264T>A n.251T>A | |
20 | g.46725101T>C | CA409266274 | SLC2A10 | c.65T>C (p.Phe22Ser) n.217T>C c.128T>C (p.Phe43Ser) c.74T>C (p.Phe25Ser) n.264T>C n.251T>C | |
20 | g.46725101T>G | CA16616226 | SLC2A10 | c.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 |
20 | g.46725101T= | CA2366796035 | SLC2A10 | c.65T= (p.Phe22=) n.217T= c.128T= (p.Phe43=) c.74T= (p.Phe25=) n.264T= n.251T= | |
20 | g.46725102T>A | CA409266275 | SLC2A10 | c.66T>A (p.Phe22Leu) n.218T>A c.129T>A (p.Phe43Leu) c.75T>A (p.Phe25Leu) n.265T>A n.252T>A | |
20 | g.46725102T>C | CA510770845 | SLC2A10 | c.66T>C (p.Phe22=) n.218T>C c.129T>C (p.Phe43=) c.75T>C (p.Phe25=) n.265T>C n.252T>C | |
20 | g.46725102T>G | CA409266276 | SLC2A10 | c.66T>G (p.Phe22Leu) n.218T>G c.129T>G (p.Phe43Leu) c.75T>G (p.Phe25Leu) n.265T>G n.252T>G | |
20 | g.46725103G>A | CA9891907 | SLC2A10 | c.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 |
20 | g.46725103G>C | CA409266277 | SLC2A10 | c.67G>C (p.Gly23Arg) n.219G>C c.130G>C (p.Gly44Arg) c.76G>C (p.Gly26Arg) n.266G>C n.253G>C | |
20 | g.46725103G= | CA2366796036 | SLC2A10 | c.67G= (p.Gly23=) n.219G= c.130G= (p.Gly44=) c.76G= (p.Gly26=) n.266G= n.253G= | |
20 | g.46725103G>T | CA409266278 | SLC2A10 | c.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 |
20 | g.46725104G>A | CA409266279 | SLC2A10 | c.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 |
20 | g.46725104G>C | CA409266280 | SLC2A10 | c.68G>C (p.Gly23Ala) n.220G>C c.131G>C (p.Gly44Ala) c.77G>C (p.Gly26Ala) n.267G>C n.254G>C | |
20 | g.46725104G= | CA2366796037 | SLC2A10 | c.68G= (p.Gly23=) n.220G= c.131G= (p.Gly44=) c.77G= (p.Gly26=) n.267G= n.254G= | |
20 | g.46725104G>T | CA409266281 | SLC2A10 | c.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 |
20 | g.46725105T>A | CA510770849 | SLC2A10 | c.69T>A (p.Gly23=) n.221T>A c.132T>A (p.Gly44=) c.78T>A (p.Gly26=) n.268T>A n.255T>A | |
20 | g.46725105T>C | CA510770847 | SLC2A10 | c.69T>C (p.Gly23=) n.221T>C c.132T>C (p.Gly44=) c.78T>C (p.Gly26=) n.268T>C n.255T>C | |
20 | g.46725105T>G | CA510770848 | SLC2A10 | c.69T>G (p.Gly23=) n.221T>G c.132T>G (p.Gly44=) c.78T>G (p.Gly26=) n.268T>G n.255T>G | |
20 | g.46725106dup | CA2841658294 | SLC2A10 | c.70dup (p.Tyr24LeufsTer2) n.222dup c.133dup (p.Tyr45LeufsTer2) c.79dup (p.Tyr27LeufsTer2) n.269dup n.256dup | |
20 | g.46725106T>A | CA409266282 | SLC2A10 | c.70T>A (p.Tyr24Asn) n.222T>A c.133T>A (p.Tyr45Asn) c.79T>A (p.Tyr27Asn) n.269T>A n.256T>A | |
20 | g.46725106T>C | CA409266283 | SLC2A10 | c.70T>C (p.Tyr24His) n.222T>C c.133T>C (p.Tyr45His) c.79T>C (p.Tyr27His) n.269T>C n.256T>C | |
20 | g.46725106T>G | CA409266284 | SLC2A10 | c.70T>G (p.Tyr24Asp) n.222T>G c.133T>G (p.Tyr45Asp) c.79T>G (p.Tyr27Asp) n.269T>G n.256T>G | |
20 | g.46725107A= | CA2366796038 | SLC2A10 | c.71A= (p.Tyr24=) n.223A= c.134A= (p.Tyr45=) c.80A= (p.Tyr27=) n.270A= n.257A= | |
20 | g.46725107A>C | CA409266285 | SLC2A10 | c.71A>C (p.Tyr24Ser) n.223A>C c.134A>C (p.Tyr45Ser) c.80A>C (p.Tyr27Ser) n.270A>C n.257A>C | |
20 | g.46725107A>G | CA315755073 | SLC2A10 | c.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 |
20 | g.46725107A>T | CA10653172 | SLC2A10 | c.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 |
20 | g.46725108T>A | CA409266287 | SLC2A10 | c.72T>A (p.Tyr24Ter) n.224T>A c.135T>A (p.Tyr45Ter) c.81T>A (p.Tyr27Ter) n.271T>A n.258T>A | |
20 | g.46725108T>C | CA510770853 | SLC2A10 | c.72T>C (p.Tyr24=) n.224T>C c.135T>C (p.Tyr45=) c.81T>C (p.Tyr27=) n.271T>C n.258T>C | |
20 | g.46725108T>G | CA409266286 | SLC2A10 | c.72T>G (p.Tyr24Ter) n.224T>G c.135T>G (p.Tyr45Ter) c.81T>G (p.Tyr27Ter) n.271T>G n.258T>G | |
20 | g.46725109G>A | CA409266288 | SLC2A10 | c.73G>A (p.Glu25Lys) n.225G>A c.136G>A (p.Glu46Lys) c.82G>A (p.Glu28Lys) n.272G>A n.259G>A | |
20 | g.46725109G>C | CA409266289 | SLC2A10 | c.73G>C (p.Glu25Gln) n.225G>C c.136G>C (p.Glu46Gln) c.82G>C (p.Glu28Gln) n.272G>C n.259G>C | |
20 | g.46725109G= | CA2366796039 | SLC2A10 | c.73G= (p.Glu25=) n.225G= c.136G= (p.Glu46=) c.82G= (p.Glu28=) n.272G= n.259G= | |
20 | g.46725109G>T | CA409266290 | SLC2A10 | c.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 |
20 | g.46725110A= | CA2366796040 | SLC2A10 | c.74A= (p.Glu25=) n.226A= c.137A= (p.Glu46=) c.83A= (p.Glu28=) n.273A= n.260A= | |
20 | g.46725110A>C | CA9891908 | SLC2A10 | c.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 |
20 | g.46725110A>G | CA409266291 | SLC2A10 | c.74A>G (p.Glu25Gly) n.226A>G c.137A>G (p.Glu46Gly) c.83A>G (p.Glu28Gly) n.273A>G n.260A>G | |
20 | g.46725110A>T | CA409266292 | SLC2A10 | c.74A>T (p.Glu25Val) n.226A>T c.137A>T (p.Glu46Val) c.83A>T (p.Glu28Val) n.273A>T n.260A>T | |
20 | g.46725111A>C | CA409266294 | SLC2A10 | c.75A>C (p.Glu25Asp) n.227A>C c.138A>C (p.Glu46Asp) c.84A>C (p.Glu28Asp) n.274A>C n.261A>C | |
20 | g.46725111A>G | CA510770854 | SLC2A10 | c.75A>G (p.Glu25=) n.227A>G c.138A>G (p.Glu46=) c.84A>G (p.Glu28=) n.274A>G n.261A>G | |
20 | g.46725111A>T | CA409266293 | SLC2A10 | c.75A>T (p.Glu25Asp) n.227A>T c.138A>T (p.Glu46Asp) c.84A>T (p.Glu28Asp) n.274A>T n.261A>T | |
20 | g.46725112C>A | CA409266295 | SLC2A10 | c.76C>A (p.Leu26Met) n.228C>A c.139C>A (p.Leu47Met) c.85C>A (p.Leu29Met) n.275C>A n.262C>A | |
20 | g.46725112C>G | CA409266296 | SLC2A10 | c.76C>G (p.Leu26Val) n.228C>G c.139C>G (p.Leu47Val) c.85C>G (p.Leu29Val) n.275C>G n.262C>G | |
20 | g.46725112C>T | CA510770855 | SLC2A10 | c.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 |
20 | g.46725113T>A | CA409266297 | SLC2A10 | c.77T>A (p.Leu26Gln) n.229T>A c.140T>A (p.Leu47Gln) c.86T>A (p.Leu29Gln) n.276T>A n.263T>A | |
20 | g.46725113T>C | CA409266298 | SLC2A10 | c.77T>C (p.Leu26Pro) n.229T>C c.140T>C (p.Leu47Pro) c.86T>C (p.Leu29Pro) n.276T>C n.263T>C | |
20 | g.46725113T>G | CA409266299 | SLC2A10 | c.77T>G (p.Leu26Arg) n.229T>G c.140T>G (p.Leu47Arg) c.86T>G (p.Leu29Arg) n.276T>G n.263T>G | |
20 | g.46725114G>A | CA510770859 | SLC2A10 | c.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 |
20 | g.46725114G>C | CA510770860 | SLC2A10 | c.78G>C (p.Leu26=) n.230G>C c.141G>C (p.Leu47=) c.87G>C (p.Leu29=) n.277G>C n.264G>C | |
20 | g.46725114G= | CA2366796041 | SLC2A10 | c.78G= (p.Leu26=) n.230G= c.141G= (p.Leu47=) c.87G= (p.Leu29=) n.277G= n.264G= | |
20 | g.46725114G>T | CA9891909 | SLC2A10 | c.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 |
20 | g.46725115G>A | CA409266300 | SLC2A10 | c.79G>A (p.Ala27Thr) n.231G>A c.142G>A (p.Ala48Thr) c.88G>A (p.Ala30Thr) n.278G>A n.265G>A | |
20 | g.46725115G>C | CA409266302 | SLC2A10 | c.79G>C (p.Ala27Pro) n.231G>C c.142G>C (p.Ala48Pro) c.88G>C (p.Ala30Pro) n.278G>C n.265G>C | |
20 | g.46725115G>T | CA409266301 | SLC2A10 | c.79G>T (p.Ala27Ser) n.231G>T c.142G>T (p.Ala48Ser) c.88G>T (p.Ala30Ser) n.278G>T n.265G>T | |
20 | g.46725116C>A | CA409266303 | SLC2A10 | c.80C>A (p.Ala27Glu) n.232C>A c.143C>A (p.Ala48Glu) c.89C>A (p.Ala30Glu) n.279C>A n.266C>A | |
20 | g.46725116C>G | CA409266304 | SLC2A10 | c.80C>G (p.Ala27Gly) n.232C>G c.143C>G (p.Ala48Gly) c.89C>G (p.Ala30Gly) n.279C>G n.266C>G | |
20 | g.46725116C>T | CA409266305 | SLC2A10 | c.80C>T (p.Ala27Val) n.232C>T c.143C>T (p.Ala48Val) c.89C>T (p.Ala30Val) n.279C>T n.266C>T | |
20 | g.46725117A>C | CA510770864 | SLC2A10 | c.81A>C (p.Ala27=) n.233A>C c.144A>C (p.Ala48=) c.90A>C (p.Ala30=) n.280A>C n.267A>C | |
20 | g.46725117A>G | CA510770865 | SLC2A10 | c.81A>G (p.Ala27=) n.233A>G c.144A>G (p.Ala48=) c.90A>G (p.Ala30=) n.280A>G n.267A>G | |
20 | g.46725117A>T | CA510770866 | SLC2A10 | c.81A>T (p.Ala27=) n.233A>T c.144A>T (p.Ala48=) c.90A>T (p.Ala30=) n.280A>T n.267A>T | |
20 | g.46725118G>A | CA409266306 | SLC2A10 | c.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 |
20 | g.46725118G>C | CA409266307 | SLC2A10 | c.82G>C (p.Val28Leu) n.234G>C c.145G>C (p.Val49Leu) c.91G>C (p.Val31Leu) n.281G>C n.268G>C | |
20 | g.46725118G>T | CA409266308 | SLC2A10 | c.82G>T (p.Val28Phe) n.234G>T c.145G>T (p.Val49Phe) c.91G>T (p.Val31Phe) n.281G>T n.268G>T | |
20 | g.46725119T>A | CA409266309 | SLC2A10 | c.83T>A (p.Val28Asp) n.235T>A c.146T>A (p.Val49Asp) c.92T>A (p.Val31Asp) n.282T>A n.269T>A | |
20 | g.46725119T>C | CA409266310 | SLC2A10 | c.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 |
20 | g.46725119T>G | CA409266311 | SLC2A10 | c.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 |
20 | g.46725119T= | CA2366796042 | SLC2A10 | c.83T= (p.Val28=) n.235T= c.146T= (p.Val49=) c.92T= (p.Val31=) n.282T= n.269T= | |
20 | g.46725122_46725126dup | CA2653170731 | SLC2A10 | c.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 |
20 | g.46725120C>A | CA510770869 | SLC2A10 | c.84C>A (p.Val28=) n.236C>A c.147C>A (p.Val49=) c.93C>A (p.Val31=) n.283C>A n.270C>A | |
20 | g.46725120C>G | CA510770870 | SLC2A10 | c.84C>G (p.Val28=) n.236C>G c.147C>G (p.Val49=) c.93C>G (p.Val31=) n.283C>G n.270C>G | |
20 | g.46725120C>T | CA510770871 | SLC2A10 | c.84C>T (p.Val28=) n.236C>T c.147C>T (p.Val49=) c.93C>T (p.Val31=) n.283C>T n.270C>T | |
20 | g.46725121A= | CA2366796043 | SLC2A10 | c.85A= (p.Ile29=) n.237A= c.148A= (p.Ile50=) c.94A= (p.Ile32=) n.284A= n.271A= | |
20 | g.46725121A>C | CA9891910 | SLC2A10 | c.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 |
20 | g.46725121A>G | CA409266312 | SLC2A10 | c.85A>G (p.Ile29Val) n.237A>G c.148A>G (p.Ile50Val) c.94A>G (p.Ile32Val) n.284A>G n.271A>G | |
20 | g.46725121A>T | CA409266313 | SLC2A10 | c.85A>T (p.Ile29Leu) n.237A>T c.148A>T (p.Ile50Leu) c.94A>T (p.Ile32Leu) n.284A>T n.271A>T | |
20 | g.46725122T>A | CA409266314 | SLC2A10 | c.86T>A (p.Ile29Lys) n.238T>A c.149T>A (p.Ile50Lys) c.95T>A (p.Ile32Lys) n.285T>A n.272T>A | |
20 | g.46725122T>C | CA409266315 | SLC2A10 | c.86T>C (p.Ile29Thr) n.238T>C c.149T>C (p.Ile50Thr) c.95T>C (p.Ile32Thr) n.285T>C n.272T>C | |
20 | g.46725122T>G | CA9891911 | SLC2A10 | c.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 |
20 | g.46725122T= | CA2366796044 | SLC2A10 | c.86T= (p.Ile29=) n.238T= c.149T= (p.Ile50=) c.95T= (p.Ile32=) n.285T= n.272T= | |
20 | g.46725123A= | CA2366796045 | SLC2A10 | c.87A= (p.Ile29=) n.239A= c.150A= (p.Ile50=) c.96A= (p.Ile32=) n.286A= n.273A= | |
20 | g.46725123A>C | CA510770873 | SLC2A10 | c.87A>C (p.Ile29=) n.239A>C c.150A>C (p.Ile50=) c.96A>C (p.Ile32=) n.286A>C n.273A>C | |
20 | g.46725123A>G | CA409266316 | SLC2A10 | c.87A>G (p.Ile29Met) n.239A>G c.150A>G (p.Ile50Met) c.96A>G (p.Ile32Met) n.286A>G n.273A>G | dbSNP |
20 | g.46725123A>T | CA510770874 | SLC2A10 | c.87A>T (p.Ile29=) n.239A>T c.150A>T (p.Ile50=) c.96A>T (p.Ile32=) n.286A>T n.273A>T | |
20 | g.46725124T>A | CA409266317 | SLC2A10 | c.88T>A (p.Ser30Thr) n.240T>A c.151T>A (p.Ser51Thr) c.97T>A (p.Ser33Thr) n.287T>A n.274T>A | |
20 | g.46725124T>C | CA409266318 | SLC2A10 | c.88T>C (p.Ser30Pro) n.240T>C c.151T>C (p.Ser51Pro) c.97T>C (p.Ser33Pro) n.287T>C n.274T>C | ClinVar |
20 | g.46725124T>G | CA409266319 | SLC2A10 | c.88T>G (p.Ser30Ala) n.240T>G c.151T>G (p.Ser51Ala) c.97T>G (p.Ser33Ala) n.287T>G n.274T>G | |
20 | g.46725125C>A | CA409266320 | SLC2A10 | c.89C>A (p.Ser30Ter) n.241C>A c.152C>A (p.Ser51Ter) c.98C>A (p.Ser33Ter) n.288C>A n.275C>A | |
20 | g.46725125C>G | CA409266321 | SLC2A10 | c.89C>G (p.Ser30Ter) n.241C>G c.152C>G (p.Ser51Ter) c.98C>G (p.Ser33Ter) n.288C>G n.275C>G | |
20 | g.46725125C>T | CA409266322 | SLC2A10 | c.89C>T (p.Ser30Leu) n.241C>T c.152C>T (p.Ser51Leu) c.98C>T (p.Ser33Leu) n.288C>T n.275C>T | |
20 | g.46725126A= | CA2366796046 | SLC2A10 | c.90A= (p.Ser30=) n.242A= c.153A= (p.Ser51=) c.99A= (p.Ser33=) n.289A= n.276A= | |
20 | g.46725126A>C | CA510770876 | SLC2A10 | c.90A>C (p.Ser30=) n.242A>C c.153A>C (p.Ser51=) c.99A>C (p.Ser33=) n.289A>C n.276A>C | |
20 | g.46725126A>G | CA510770877 | SLC2A10 | c.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 |
20 | g.46725126A>T | CA510770878 | SLC2A10 | c.90A>T (p.Ser30=) n.242A>T c.153A>T (p.Ser51=) c.99A>T (p.Ser33=) n.289A>T n.276A>T | |
20 | g.46725127G>A | CA409266323 | SLC2A10 | c.91G>A (p.Gly31Ser) n.243G>A c.154G>A (p.Gly52Ser) c.100G>A (p.Gly34Ser) n.290G>A n.277G>A | |
20 | g.46725127G>C | CA409266324 | SLC2A10 | c.91G>C (p.Gly31Arg) n.243G>C c.154G>C (p.Gly52Arg) c.100G>C (p.Gly34Arg) n.290G>C n.277G>C | |
20 | g.46725127G>T | CA409266325 | SLC2A10 | c.91G>T (p.Gly31Cys) n.243G>T c.154G>T (p.Gly52Cys) c.100G>T (p.Gly34Cys) n.290G>T n.277G>T | |
20 | g.46725128G>A | CA409266326 | SLC2A10 | c.92G>A (p.Gly31Asp) n.244G>A c.155G>A (p.Gly52Asp) c.101G>A (p.Gly34Asp) n.291G>A n.278G>A | dbSNP |
20 | g.46725128G>C | CA409266327 | SLC2A10 | c.92G>C (p.Gly31Ala) n.244G>C c.155G>C (p.Gly52Ala) c.101G>C (p.Gly34Ala) n.291G>C n.278G>C | |
20 | g.46725128G= | CA2366796047 | SLC2A10 | c.92G= (p.Gly31=) n.244G= c.155G= (p.Gly52=) c.101G= (p.Gly34=) n.291G= n.278G= | |
20 | g.46725128G>T | CA409266328 | SLC2A10 | c.92G>T (p.Gly31Val) n.244G>T c.155G>T (p.Gly52Val) c.101G>T (p.Gly34Val) n.291G>T n.278G>T | |
20 | g.46725129del | CA2653170732 | SLC2A10 | c.93del (p.Ala32ProfsTer11) n.245del c.156del (p.Ala53ProfsTer11) c.102del (p.Ala35ProfsTer11) n.292del n.279del | gnomAD v4 |
20 | g.46725129T>A | CA510770883 | SLC2A10 | c.93T>A (p.Gly31=) n.245T>A c.156T>A (p.Gly52=) c.102T>A (p.Gly34=) n.292T>A n.279T>A | |
20 | g.46725129T>C | CA510770884 | SLC2A10 | c.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 |
20 | g.46725129T>G | CA510770885 | SLC2A10 | c.93T>G (p.Gly31=) n.245T>G c.156T>G (p.Gly52=) c.102T>G (p.Gly34=) n.292T>G n.279T>G | |
20 | g.46725130G>A | CA409266329 | SLC2A10 | c.94G>A (p.Ala32Thr) n.246G>A c.157G>A (p.Ala53Thr) c.103G>A (p.Ala35Thr) n.293G>A n.280G>A | COSMIC |
20 | g.46725130G>C | CA409266331 | SLC2A10 | c.94G>C (p.Ala32Pro) n.246G>C c.157G>C (p.Ala53Pro) c.103G>C (p.Ala35Pro) n.293G>C n.280G>C | |
20 | g.46725130G>T | CA409266330 | SLC2A10 | c.94G>T (p.Ala32Ser) n.246G>T c.157G>T (p.Ala53Ser) c.103G>T (p.Ala35Ser) n.293G>T n.280G>T | |
20 | g.46725131C>A | CA409266332 | SLC2A10 | c.95C>A (p.Ala32Asp) n.247C>A c.158C>A (p.Ala53Asp) c.104C>A (p.Ala35Asp) n.294C>A n.281C>A | |
20 | g.46725131C= | CA2366796048 | SLC2A10 | c.95C= (p.Ala32=) n.247C= c.158C= (p.Ala53=) c.104C= (p.Ala35=) n.294C= n.281C= | |
20 | g.46725131C>G | CA409266333 | SLC2A10 | c.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 |
20 | g.46725131C>T | CA409266334 | SLC2A10 | c.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 |
20 | g.46725132C>A | CA510770887 | SLC2A10 | c.96C>A (p.Ala32=) n.248C>A c.159C>A (p.Ala53=) c.105C>A (p.Ala35=) n.295C>A n.282C>A | |
20 | g.46725132C= | CA2366796049 | SLC2A10 | c.96C= (p.Ala32=) n.248C= c.159C= (p.Ala53=) c.105C= (p.Ala35=) n.295C= n.282C= | |
20 | g.46725132C>G | CA510770888 | SLC2A10 | c.96C>G (p.Ala32=) n.248C>G c.159C>G (p.Ala53=) c.105C>G (p.Ala35=) n.295C>G n.282C>G | dbSNP |
20 | g.46725132C>T | CA9891912 | SLC2A10 | c.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 |
20 | g.46725133C>A | CA409266335 | SLC2A10 | c.97C>A (p.Leu33Met) n.249C>A c.160C>A (p.Leu54Met) c.106C>A (p.Leu36Met) n.296C>A n.283C>A | |
20 | g.46725133C>G | CA409266336 | SLC2A10 | c.97C>G (p.Leu33Val) n.249C>G c.160C>G (p.Leu54Val) c.106C>G (p.Leu36Val) n.296C>G n.283C>G | |
20 | g.46725133C>T | CA510770891 | SLC2A10 | c.97C>T (p.Leu33=) n.249C>T c.160C>T (p.Leu54=) c.106C>T (p.Leu36=) n.296C>T n.283C>T | |
20 | g.46725134T>A | CA409266337 | SLC2A10 | c.98T>A (p.Leu33Gln) n.250T>A c.161T>A (p.Leu54Gln) c.107T>A (p.Leu36Gln) n.297T>A n.284T>A | |
20 | g.46725134T>C | CA409266338 | SLC2A10 | c.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 |
20 | g.46725134T>G | CA409266339 | SLC2A10 | c.98T>G (p.Leu33Arg) n.250T>G c.161T>G (p.Leu54Arg) c.107T>G (p.Leu36Arg) n.297T>G n.284T>G | |
20 | g.46725135G>A | CA510770893 | SLC2A10 | c.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 |
20 | g.46725135G>C | CA510770895 | SLC2A10 | c.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 |
20 | g.46725135G= | CA2366796050 | SLC2A10 | c.99G= (p.Leu33=) n.251G= c.162G= (p.Leu54=) c.108G= (p.Leu36=) n.298G= n.285G= | |
20 | g.46725135G>T | CA510770896 | SLC2A10 | c.99G>T (p.Leu33=) n.251G>T c.162G>T (p.Leu54=) c.108G>T (p.Leu36=) n.298G>T n.285G>T | |
20 | g.46725136C>A | CA409266340 | SLC2A10 | c.100C>A (p.Leu34Met) n.252C>A c.163C>A (p.Leu55Met) c.109C>A (p.Leu37Met) n.299C>A n.286C>A | |
20 | g.46725136C>G | CA409266341 | SLC2A10 | c.100C>G (p.Leu34Val) n.252C>G c.163C>G (p.Leu55Val) c.109C>G (p.Leu37Val) n.299C>G n.286C>G | |
20 | g.46725136C>T | CA510770900 | SLC2A10 | c.100C>T (p.Leu34=) n.252C>T c.163C>T (p.Leu55=) c.109C>T (p.Leu37=) n.299C>T n.286C>T | COSMIC |
20 | g.46725137T>A | CA409266343 | SLC2A10 | c.101T>A (p.Leu34Gln) n.253T>A c.164T>A (p.Leu55Gln) c.110T>A (p.Leu37Gln) n.300T>A n.287T>A | |
20 | g.46725137T>C | CA409266344 | SLC2A10 | c.101T>C (p.Leu34Pro) n.253T>C c.164T>C (p.Leu55Pro) c.110T>C (p.Leu37Pro) n.300T>C n.287T>C | |
20 | g.46725137T>G | CA409266342 | SLC2A10 | c.101T>G (p.Leu34Arg) n.253T>G c.164T>G (p.Leu55Arg) c.110T>G (p.Leu37Arg) n.300T>G n.287T>G | |
20 | g.46725138G>A | CA510770902 | SLC2A10 | c.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 |
20 | g.46725138G>C | CA510770903 | SLC2A10 | c.102G>C (p.Leu34=) n.254G>C c.165G>C (p.Leu55=) c.111G>C (p.Leu37=) n.301G>C n.288G>C | |
20 | g.46725138G>T | CA510770904 | SLC2A10 | c.102G>T (p.Leu34=) n.254G>T c.165G>T (p.Leu55=) c.111G>T (p.Leu37=) n.301G>T n.288G>T | |
20 | g.46725139C>A | CA409266347 | SLC2A10 | c.103C>A (p.Pro35Thr) n.255C>A c.166C>A (p.Pro56Thr) c.112C>A (p.Pro38Thr) n.302C>A n.289C>A | |
20 | g.46725139C= | CA2366796051 | SLC2A10 | c.103C= (p.Pro35=) n.255C= c.166C= (p.Pro56=) c.112C= (p.Pro38=) n.302C= n.289C= | |
20 | g.46725139C>G | CA409266345 | SLC2A10 | c.103C>G (p.Pro35Ala) n.255C>G c.166C>G (p.Pro56Ala) c.112C>G (p.Pro38Ala) n.302C>G n.289C>G | |
20 | g.46725139C>T | CA409266346 | SLC2A10 | c.103C>T (p.Pro35Ser) n.255C>T c.166C>T (p.Pro56Ser) c.112C>T (p.Pro38Ser) n.302C>T n.289C>T | dbSNP |
20 | g.46725140C>A | CA409266348 | SLC2A10 | c.104C>A (p.Pro35Gln) n.256C>A c.167C>A (p.Pro56Gln) c.113C>A (p.Pro38Gln) n.303C>A n.290C>A | |
20 | g.46725140C= | CA2366796052 | SLC2A10 | c.104C= (p.Pro35=) n.256C= c.167C= (p.Pro56=) c.113C= (p.Pro38=) n.303C= n.290C= | |
20 | g.46725140C>G | CA409266349 | SLC2A10 | c.104C>G (p.Pro35Arg) n.256C>G c.167C>G (p.Pro56Arg) c.113C>G (p.Pro38Arg) n.303C>G n.290C>G | |
20 | g.46725140C>T | CA9891913 | SLC2A10 | c.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 |
20 | g.46725141A>C | CA510770906 | SLC2A10 | c.105A>C (p.Pro35=) n.257A>C c.168A>C (p.Pro56=) c.114A>C (p.Pro38=) n.304A>C n.291A>C | |
20 | g.46725141A>G | CA510770907 | SLC2A10 | c.105A>G (p.Pro35=) n.257A>G c.168A>G (p.Pro56=) c.114A>G (p.Pro38=) n.304A>G n.291A>G | |
20 | g.46725141A>T | CA510770908 | SLC2A10 | c.105A>T (p.Pro35=) n.257A>T c.168A>T (p.Pro56=) c.114A>T (p.Pro38=) n.304A>T n.291A>T | |
20 | g.46725141dup | CA2816531377 | SLC2A10 | c.105dup (p.Leu36ThrfsTer4) n.257dup c.168dup (p.Leu57ThrfsTer4) c.114dup (p.Leu39ThrfsTer4) n.304dup n.291dup | |
20 | g.46725142C>A | CA409266350 | SLC2A10 | c.106C>A (p.Leu36Met) n.258C>A c.169C>A (p.Leu57Met) c.115C>A (p.Leu39Met) n.305C>A n.292C>A | COSMIC |
20 | g.46725142C>G | CA409266351 | SLC2A10 | c.106C>G (p.Leu36Val) n.258C>G c.169C>G (p.Leu57Val) c.115C>G (p.Leu39Val) n.305C>G n.292C>G | |
20 | g.46725142C>T | CA510770909 | SLC2A10 | c.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 |
20 | g.46725143T>A | CA409266352 | SLC2A10 | c.107T>A (p.Leu36Gln) n.259T>A c.170T>A (p.Leu57Gln) c.116T>A (p.Leu39Gln) n.306T>A n.293T>A | |
20 | g.46725143T>C | CA409266353 | SLC2A10 | c.107T>C (p.Leu36Pro) n.259T>C c.170T>C (p.Leu57Pro) c.116T>C (p.Leu39Pro) n.306T>C n.293T>C | |
20 | g.46725143T>G | CA409266354 | SLC2A10 | c.107T>G (p.Leu36Arg) n.259T>G c.170T>G (p.Leu57Arg) c.116T>G (p.Leu39Arg) n.306T>G n.293T>G | |
20 | g.46725144G>A | CA510770913 | SLC2A10 | c.108G>A (p.Leu36=) n.260G>A c.171G>A (p.Leu57=) c.117G>A (p.Leu39=) n.307G>A n.294G>A | |
20 | g.46725144G>C | CA510770914 | SLC2A10 | c.108G>C (p.Leu36=) n.260G>C c.171G>C (p.Leu57=) c.117G>C (p.Leu39=) n.307G>C n.294G>C | |
20 | g.46725144G>T | CA510770915 | SLC2A10 | c.108G>T (p.Leu36=) n.260G>T c.171G>T (p.Leu57=) c.117G>T (p.Leu39=) n.307G>T n.294G>T | |
20 | g.46725145C>A | CA409266355 | SLC2A10 | c.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 |
20 | g.46725145C>G | CA409266356 | SLC2A10 | c.109C>G (p.Gln37Glu) n.261C>G c.172C>G (p.Gln58Glu) c.118C>G (p.Gln40Glu) n.308C>G n.295C>G | |
20 | g.46725145C>T | CA409266357 | SLC2A10 | c.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 |
20 | g.46725145_46725157delinsCAGCTTGACTTTG | CA2366796053 | SLC2A10 | c.109_121delinsCAGCTTGACTTTG (p.Gln37=) n.261_273delinsCAGCTTGACTTTG c.172_184delinsCAGCTTGACTTTG (p.Gln58=) c.118_130delinsCAGCTTGACTTTG (p.Gln40=) n.308_320delinsCAGCTTGACTTTG n.295_307delinsCAGCTTGACTTTG | |
20 | g.46725146A>C | CA409266360 | SLC2A10 | c.110A>C (p.Gln37Pro) n.262A>C c.173A>C (p.Gln58Pro) c.119A>C (p.Gln40Pro) n.309A>C n.296A>C | |
20 | g.46725146A>G | CA409266358 | SLC2A10 | c.110A>G (p.Gln37Arg) n.262A>G c.173A>G (p.Gln58Arg) c.119A>G (p.Gln40Arg) n.309A>G n.296A>G | |
20 | g.46725146A>T | CA409266359 | SLC2A10 | c.110A>T (p.Gln37Leu) n.262A>T c.173A>T (p.Gln58Leu) c.119A>T (p.Gln40Leu) n.309A>T n.296A>T | |
20 | g.46725146_46725157del | CA9891914 | SLC2A10 | c.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 |
20 | g.46725147G>A | CA510770919 | SLC2A10 | c.111G>A (p.Gln37=) n.263G>A c.174G>A (p.Gln58=) c.120G>A (p.Gln40=) n.310G>A n.297G>A | |
20 | g.46725147G>C | CA409266361 | SLC2A10 | c.111G>C (p.Gln37His) n.263G>C c.174G>C (p.Gln58His) c.120G>C (p.Gln40His) n.310G>C n.297G>C | |
20 | g.46725147G>T | CA409266362 | SLC2A10 | c.111G>T (p.Gln37His) n.263G>T c.174G>T (p.Gln58His) c.120G>T (p.Gln40His) n.310G>T n.297G>T | |
20 | g.46725148C>A | CA409266363 | SLC2A10 | c.112C>A (p.Leu38Ile) n.264C>A c.175C>A (p.Leu59Ile) c.121C>A (p.Leu41Ile) n.311C>A n.298C>A | |
20 | g.46725148C= | CA2366796054 | SLC2A10 | c.112C= (p.Leu38=) n.264C= c.175C= (p.Leu59=) c.121C= (p.Leu41=) n.311C= n.298C= | |
20 | g.46725148C>G | CA409266364 | SLC2A10 | c.112C>G (p.Leu38Val) n.264C>G c.175C>G (p.Leu59Val) c.121C>G (p.Leu41Val) n.311C>G n.298C>G | |
20 | g.46725148C>T | CA409266365 | SLC2A10 | c.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 |
20 | g.46725149T>A | CA409266366 | SLC2A10 | c.113T>A (p.Leu38His) n.265T>A c.176T>A (p.Leu59His) c.122T>A (p.Leu41His) n.312T>A n.299T>A | |
20 | g.46725149T>C | CA409266367 | SLC2A10 | c.113T>C (p.Leu38Pro) n.265T>C c.176T>C (p.Leu59Pro) c.122T>C (p.Leu41Pro) n.312T>C n.299T>C | |
20 | g.46725149T>G | CA409266368 | SLC2A10 | c.113T>G (p.Leu38Arg) n.265T>G c.176T>G (p.Leu59Arg) c.122T>G (p.Leu41Arg) n.312T>G n.299T>G | |
20 | g.46725150T>A | CA510770920 | SLC2A10 | c.114T>A (p.Leu38=) n.266T>A c.177T>A (p.Leu59=) c.123T>A (p.Leu41=) n.313T>A n.300T>A | |
20 | g.46725150T>C | CA510770921 | SLC2A10 | c.114T>C (p.Leu38=) n.266T>C c.177T>C (p.Leu59=) c.123T>C (p.Leu41=) n.313T>C n.300T>C | |
20 | g.46725150T>G | CA510770922 | SLC2A10 | c.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 |
20 | g.46725151G>A | CA9891915 | SLC2A10 | c.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 |
20 | g.46725151G>C | CA409266369 | SLC2A10 | c.115G>C (p.Asp39His) n.267G>C c.178G>C (p.Asp60His) c.124G>C (p.Asp42His) n.314G>C n.301G>C | |
20 | g.46725151G= | CA2366796055 | SLC2A10 | c.115G= (p.Asp39=) n.267G= c.178G= (p.Asp60=) c.124G= (p.Asp42=) n.314G= n.301G= | |
20 | g.46725151G>T | CA409266370 | SLC2A10 | c.115G>T (p.Asp39Tyr) n.267G>T c.178G>T (p.Asp60Tyr) c.124G>T (p.Asp42Tyr) n.314G>T n.301G>T | |
20 | g.46725152A= | CA2366796056 | SLC2A10 | c.116A= (p.Asp39=) n.268A= c.179A= (p.Asp60=) c.125A= (p.Asp42=) n.315A= n.302A= | |
20 | g.46725152A>C | CA409266372 | SLC2A10 | c.116A>C (p.Asp39Ala) n.268A>C c.179A>C (p.Asp60Ala) c.125A>C (p.Asp42Ala) n.315A>C n.302A>C | |
20 | g.46725152A>G | CA9891916 | SLC2A10 | c.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 |
20 | g.46725152A>T | CA409266371 | SLC2A10 | c.116A>T (p.Asp39Val) n.268A>T c.179A>T (p.Asp60Val) c.125A>T (p.Asp42Val) n.315A>T n.302A>T | |
20 | g.46725153C>A | CA409266373 | SLC2A10 | c.117C>A (p.Asp39Glu) n.269C>A c.180C>A (p.Asp60Glu) c.126C>A (p.Asp42Glu) n.316C>A n.303C>A | |
20 | g.46725153C>G | CA409266374 | SLC2A10 | c.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 |
20 | g.46725153C>T | CA510847404 | SLC2A10 | c.117C>T (p.Asp39=) n.269C>T c.180C>T (p.Asp60=) c.126C>T (p.Asp42=) n.316C>T n.303C>T | |
20 | g.46725155_46725161del | CA2816531378 | SLC2A10 | c.119_125del (p.Phe40Ter) n.271_277del c.182_188del (p.Phe61Ter) c.128_134del (p.Phe43Ter) n.318_324del n.305_311del | |
20 | g.46725154T>A | CA409266375 | SLC2A10 | c.118T>A (p.Phe40Ile) n.270T>A c.181T>A (p.Phe61Ile) c.127T>A (p.Phe43Ile) n.317T>A n.304T>A | |
20 | g.46725154T>C | CA409266376 | SLC2A10 | c.118T>C (p.Phe40Leu) n.270T>C c.181T>C (p.Phe61Leu) c.127T>C (p.Phe43Leu) n.317T>C n.304T>C | |
20 | g.46725154T>G | CA409266377 | SLC2A10 | c.118T>G (p.Phe40Val) n.270T>G c.181T>G (p.Phe61Val) c.127T>G (p.Phe43Val) n.317T>G n.304T>G | |
20 | g.46725156dup | CA2841658295 | SLC2A10 | c.120dup (p.Gly41TrpfsTer30) n.272dup c.183dup (p.Gly62TrpfsTer30) c.129dup (p.Gly44TrpfsTer30) n.319dup n.306dup | |
20 | g.46725155T>A | CA409266378 | SLC2A10 | c.119T>A (p.Phe40Tyr) n.271T>A c.182T>A (p.Phe61Tyr) c.128T>A (p.Phe43Tyr) n.318T>A n.305T>A | |
20 | g.46725155T>C | CA9891917 | SLC2A10 | c.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 |
20 | g.46725155T>G | CA409266379 | SLC2A10 | c.119T>G (p.Phe40Cys) n.271T>G c.182T>G (p.Phe61Cys) c.128T>G (p.Phe43Cys) n.318T>G n.305T>G | |
20 | g.46725155T= | CA2366796057 | SLC2A10 | c.119T= (p.Phe40=) n.271T= c.182T= (p.Phe61=) c.128T= (p.Phe43=) n.318T= n.305T= | |
20 | g.46725156T>A | CA409266380 | SLC2A10 | c.120T>A (p.Phe40Leu) n.272T>A c.183T>A (p.Phe61Leu) c.129T>A (p.Phe43Leu) n.319T>A n.306T>A | |
20 | g.46725156T>C | CA9891918 | SLC2A10 | c.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 |
20 | g.46725156T>G | CA409266381 | SLC2A10 | c.120T>G (p.Phe40Leu) n.272T>G c.183T>G (p.Phe61Leu) c.129T>G (p.Phe43Leu) n.319T>G n.306T>G | |
20 | g.46725156T= | CA2366796058 | SLC2A10 | c.120T= (p.Phe40=) n.272T= c.183T= (p.Phe61=) c.129T= (p.Phe43=) n.319T= n.306T= | |
20 | g.46725157G>A | CA409266382 | SLC2A10 | c.121G>A (p.Gly41Arg) n.273G>A c.184G>A (p.Gly62Arg) c.130G>A (p.Gly44Arg) n.320G>A n.307G>A | |
20 | g.46725157G>C | CA409266383 | SLC2A10 | c.121G>C (p.Gly41Arg) n.273G>C c.184G>C (p.Gly62Arg) c.130G>C (p.Gly44Arg) n.320G>C n.307G>C | |
20 | g.46725157G>T | CA409266384 | SLC2A10 | c.121G>T (p.Gly41Trp) n.273G>T c.184G>T (p.Gly62Trp) c.130G>T (p.Gly44Trp) n.320G>T n.307G>T | |
20 | g.46725158G>A | CA409266387 | SLC2A10 | c.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 |
20 | g.46725158G>C | CA409266386 | SLC2A10 | c.122G>C (p.Gly41Ala) n.274G>C c.185G>C (p.Gly62Ala) c.131G>C (p.Gly44Ala) n.321G>C n.308G>C | |
20 | g.46725158G>T | CA409266385 | SLC2A10 | c.122G>T (p.Gly41Val) n.274G>T c.185G>T (p.Gly62Val) c.131G>T (p.Gly44Val) n.321G>T n.308G>T | |
20 | g.46725159G>A | CA510847405 | SLC2A10 | c.123G>A (p.Gly41=) n.275G>A c.186G>A (p.Gly62=) c.132G>A (p.Gly44=) n.322G>A n.309G>A | |
20 | g.46725159G>C | CA510847407 | SLC2A10 | c.123G>C (p.Gly41=) n.275G>C c.186G>C (p.Gly62=) c.132G>C (p.Gly44=) n.322G>C n.309G>C | |
20 | g.46725159G>T | CA510847406 | SLC2A10 | c.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 |
20 | g.46725160C>A | CA409266388 | SLC2A10 | c.124C>A (p.Leu42Ile) n.276C>A c.187C>A (p.Leu63Ile) c.133C>A (p.Leu45Ile) n.323C>A n.310C>A | |
20 | g.46725160C= | CA2366796059 | SLC2A10 | c.124C= (p.Leu42=) n.276C= c.187C= (p.Leu63=) c.133C= (p.Leu45=) n.323C= n.310C= | |
20 | g.46725160C>G | CA409266389 | SLC2A10 | c.124C>G (p.Leu42Val) n.276C>G c.187C>G (p.Leu63Val) c.133C>G (p.Leu45Val) n.323C>G n.310C>G | |
20 | g.46725160C>T | CA510847408 | SLC2A10 | c.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 |
20 | g.46725161T>A | CA409266390 | SLC2A10 | c.125T>A (p.Leu42Gln) n.277T>A c.188T>A (p.Leu63Gln) c.134T>A (p.Leu45Gln) n.324T>A n.311T>A | |
20 | g.46725161T>C | CA409266391 | SLC2A10 | c.125T>C (p.Leu42Pro) n.277T>C c.188T>C (p.Leu63Pro) c.134T>C (p.Leu45Pro) n.324T>C n.311T>C | |
20 | g.46725161T>G | CA409266392 | SLC2A10 | c.125T>G (p.Leu42Arg) n.277T>G c.188T>G (p.Leu63Arg) c.134T>G (p.Leu45Arg) n.324T>G n.311T>G | |
20 | g.46725162A>C | CA510847409 | SLC2A10 | c.126A>C (p.Leu42=) n.278A>C c.189A>C (p.Leu63=) c.135A>C (p.Leu45=) n.325A>C n.312A>C | |
20 | g.46725162A>G | CA510847410 | SLC2A10 | c.126A>G (p.Leu42=) n.278A>G c.189A>G (p.Leu63=) c.135A>G (p.Leu45=) n.325A>G n.312A>G | |
20 | g.46725162A>T | CA510847411 | SLC2A10 | c.126A>T (p.Leu42=) n.278A>T c.189A>T (p.Leu63=) c.135A>T (p.Leu45=) n.325A>T n.312A>T | |
20 | g.46725163A>C | CA409266393 | SLC2A10 | c.127A>C (p.Ser43Arg) n.279A>C c.190A>C (p.Ser64Arg) c.136A>C (p.Ser46Arg) n.326A>C n.313A>C | |
20 | g.46725163A>G | CA409266394 | SLC2A10 | c.127A>G (p.Ser43Gly) n.279A>G c.190A>G (p.Ser64Gly) c.136A>G (p.Ser46Gly) n.326A>G n.313A>G | |
20 | g.46725163A>T | CA409266395 | SLC2A10 | c.127A>T (p.Ser43Cys) n.279A>T c.190A>T (p.Ser64Cys) c.136A>T (p.Ser46Cys) n.326A>T n.313A>T | |
20 | g.46725164G>A | CA409266396 | SLC2A10 | c.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 |
20 | g.46725164G>C | CA409266397 | SLC2A10 | c.128G>C (p.Ser43Thr) n.280G>C c.191G>C (p.Ser64Thr) c.137G>C (p.Ser46Thr) n.327G>C n.314G>C | |
20 | g.46725164G= | CA2366796060 | SLC2A10 | c.128G= (p.Ser43=) n.280G= c.191G= (p.Ser64=) c.137G= (p.Ser46=) n.327G= n.314G= | |
20 | g.46725164G>T | CA409266398 | SLC2A10 | c.128G>T (p.Ser43Ile) n.280G>T c.191G>T (p.Ser64Ile) c.137G>T (p.Ser46Ile) n.327G>T n.314G>T | |
20 | g.46725165C>A | CA409266399 | SLC2A10 | c.129C>A (p.Ser43Arg) n.281C>A c.192C>A (p.Ser64Arg) c.138C>A (p.Ser46Arg) n.328C>A n.315C>A | |
20 | g.46725165C= | CA2366796061 | SLC2A10 | c.129C= (p.Ser43=) n.281C= c.192C= (p.Ser64=) c.138C= (p.Ser46=) n.328C= n.315C= | |
20 | g.46725165C>G | CA323447 | SLC2A10 | c.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 |
20 | g.46725165C>T | CA510847412 | SLC2A10 | c.129C>T (p.Ser43=) n.281C>T c.192C>T (p.Ser64=) c.138C>T (p.Ser46=) n.328C>T n.315C>T | |
20 | g.46725166T>A | CA409266400 | SLC2A10 | c.130T>A (p.Cys44Ser) n.282T>A c.193T>A (p.Cys65Ser) c.139T>A (p.Cys47Ser) n.329T>A n.316T>A | |
20 | g.46725166T>C | CA409266402 | SLC2A10 | c.130T>C (p.Cys44Arg) n.282T>C c.193T>C (p.Cys65Arg) c.139T>C (p.Cys47Arg) n.329T>C n.316T>C | |
20 | g.46725166T>G | CA409266401 | SLC2A10 | c.130T>G (p.Cys44Gly) n.282T>G c.193T>G (p.Cys65Gly) c.139T>G (p.Cys47Gly) n.329T>G n.316T>G | |
20 | g.46725167G>A | CA409266403 | SLC2A10 | c.131G>A (p.Cys44Tyr) n.283G>A c.194G>A (p.Cys65Tyr) c.140G>A (p.Cys47Tyr) n.330G>A n.317G>A | |
20 | g.46725167G>C | CA409266404 | SLC2A10 | c.131G>C (p.Cys44Ser) n.283G>C c.194G>C (p.Cys65Ser) c.140G>C (p.Cys47Ser) n.330G>C n.317G>C | |
20 | g.46725167G= | CA2366796062 | SLC2A10 | c.131G= (p.Cys44=) n.283G= c.194G= (p.Cys65=) c.140G= (p.Cys47=) n.330G= n.317G= | |
20 | g.46725167G>T | CA9891919 | SLC2A10 | c.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 |
20 | g.46725168C>A | CA409266405 | SLC2A10 | c.132C>A (p.Cys44Ter) n.284C>A c.195C>A (p.Cys65Ter) c.141C>A (p.Cys47Ter) n.331C>A n.318C>A | |
20 | g.46725168C>G | CA409266406 | SLC2A10 | c.132C>G (p.Cys44Trp) n.284C>G c.195C>G (p.Cys65Trp) c.141C>G (p.Cys47Trp) n.331C>G n.318C>G | |
20 | g.46725168C>T | CA510847413 | SLC2A10 | c.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 |
20 | g.46725169T>A | CA409266407 | SLC2A10 | c.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 |
20 | g.46725169T>C | CA510847414 | SLC2A10 | c.133T>C (p.Leu45=) n.285T>C c.196T>C (p.Leu66=) c.142T>C (p.Leu48=) n.332T>C n.319T>C | |
20 | g.46725169T>G | CA409266408 | SLC2A10 | c.133T>G (p.Leu45Val) n.285T>G c.196T>G (p.Leu66Val) c.142T>G (p.Leu48Val) n.332T>G n.319T>G | |
20 | g.46725170T>A | CA409266409 | SLC2A10 | c.134T>A (p.Leu45Ter) n.286T>A c.197T>A (p.Leu66Ter) c.143T>A (p.Leu48Ter) n.333T>A n.320T>A | |
20 | g.46725170T>C | CA409266411 | SLC2A10 | c.134T>C (p.Leu45Ser) n.286T>C c.197T>C (p.Leu66Ser) c.143T>C (p.Leu48Ser) n.333T>C n.320T>C | |
20 | g.46725170T>G | CA409266410 | SLC2A10 | c.134T>G (p.Leu45Trp) n.286T>G c.197T>G (p.Leu66Trp) c.143T>G (p.Leu48Trp) n.333T>G n.320T>G | |
20 | g.46725171G>A | CA510847415 | SLC2A10 | c.135G>A (p.Leu45=) n.287G>A c.198G>A (p.Leu66=) c.144G>A (p.Leu48=) n.334G>A n.321G>A | dbSNP |
20 | g.46725171G>C | CA409266412 | SLC2A10 | c.135G>C (p.Leu45Phe) n.287G>C c.198G>C (p.Leu66Phe) c.144G>C (p.Leu48Phe) n.334G>C n.321G>C | |
20 | g.46725171G= | CA2366796063 | SLC2A10 | c.135G= (p.Leu45=) n.287G= c.198G= (p.Leu66=) c.144G= (p.Leu48=) n.334G= n.321G= | |
20 | g.46725171G>T | CA409266413 | SLC2A10 | c.135G>T (p.Leu45Phe) n.287G>T c.198G>T (p.Leu66Phe) c.144G>T (p.Leu48Phe) n.334G>T n.321G>T | |
20 | g.46725172G>A | CA409266414 | SLC2A10 | c.136G>A (p.Glu46Lys) n.288G>A c.199G>A (p.Glu67Lys) c.145G>A (p.Glu49Lys) n.335G>A n.322G>A | |
20 | g.46725172G>C | CA409266415 | SLC2A10 | c.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 |
20 | g.46725172G= | CA2366796064 | SLC2A10 | c.136G= (p.Glu46=) n.288G= c.199G= (p.Glu67=) c.145G= (p.Glu49=) n.335G= n.322G= | |
20 | g.46725172G>T | CA409266416 | SLC2A10 | c.136G>T (p.Glu46Ter) n.288G>T c.199G>T (p.Glu67Ter) c.145G>T (p.Glu49Ter) n.335G>T n.322G>T | |
20 | g.46725173A= | CA2366796065 | SLC2A10 | c.137A= (p.Glu46=) n.289A= c.200A= (p.Glu67=) c.146A= (p.Glu49=) n.336A= n.323A= | |
20 | g.46725173A>C | CA409266417 | SLC2A10 | c.137A>C (p.Glu46Ala) n.289A>C c.200A>C (p.Glu67Ala) c.146A>C (p.Glu49Ala) n.336A>C n.323A>C | |
20 | g.46725173A>G | CA9891920 | SLC2A10 | c.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 |
20 | g.46725173A>T | CA409266418 | SLC2A10 | c.137A>T (p.Glu46Val) n.289A>T c.200A>T (p.Glu67Val) c.146A>T (p.Glu49Val) n.336A>T n.323A>T | |
20 | g.46725174G>A | CA510847416 | SLC2A10 | c.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 |
20 | g.46725174G>C | CA409266419 | SLC2A10 | c.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 |
20 | g.46725174G>T | CA409266420 | SLC2A10 | c.138G>T (p.Glu46Asp) n.290G>T c.201G>T (p.Glu67Asp) c.147G>T (p.Glu49Asp) n.337G>T n.324G>T | |
20 | g.46725175C>A | CA409266421 | SLC2A10 | c.139C>A (p.Gln47Lys) n.291C>A c.202C>A (p.Gln68Lys) c.148C>A (p.Gln50Lys) n.338C>A n.325C>A | |
20 | g.46725175C>G | CA409266422 | SLC2A10 | c.139C>G (p.Gln47Glu) n.291C>G c.202C>G (p.Gln68Glu) c.148C>G (p.Gln50Glu) n.338C>G n.325C>G | |
20 | g.46725175C>T | CA409266423 | SLC2A10 | c.139C>T (p.Gln47Ter) n.291C>T c.202C>T (p.Gln68Ter) c.148C>T (p.Gln50Ter) n.338C>T n.325C>T | |
20 | g.46725176A>C | CA409266426 | SLC2A10 | c.140A>C (p.Gln47Pro) n.292A>C c.203A>C (p.Gln68Pro) c.149A>C (p.Gln50Pro) n.339A>C n.326A>C | |
20 | g.46725176A>G | CA409266424 | SLC2A10 | c.140A>G (p.Gln47Arg) n.292A>G c.203A>G (p.Gln68Arg) c.149A>G (p.Gln50Arg) n.339A>G n.326A>G | |
20 | g.46725176A>T | CA409266425 | SLC2A10 | c.140A>T (p.Gln47Leu) n.292A>T c.203A>T (p.Gln68Leu) c.149A>T (p.Gln50Leu) n.339A>T n.326A>T | |
20 | g.46725177G>A | CA315755159 | SLC2A10 | c.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 |
20 | g.46725177G>C | CA409266427 | SLC2A10 | c.141G>C (p.Gln47His) n.293G>C c.204G>C (p.Gln68His) c.150G>C (p.Gln50His) n.340G>C n.327G>C | |
20 | g.46725177G= | CA2366796066 | SLC2A10 | c.141G= (p.Gln47=) n.293G= c.204G= (p.Gln68=) c.150G= (p.Gln50=) n.340G= n.327G= | |
20 | g.46725177G>T | CA409266428 | SLC2A10 | c.141G>T (p.Gln47His) n.293G>T c.204G>T (p.Gln68His) c.150G>T (p.Gln50His) n.340G>T n.327G>T | |
20 | g.46725178G>A | CA409266429 | SLC2A10 | c.142G>A (p.Glu48Lys) n.294G>A c.205G>A (p.Glu69Lys) c.151G>A (p.Glu51Lys) n.341G>A n.328G>A | |
20 | g.46725178G>C | CA409266430 | SLC2A10 | c.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 |
20 | g.46725178G= | CA2366796067 | SLC2A10 | c.142G= (p.Glu48=) n.294G= c.205G= (p.Glu69=) c.151G= (p.Glu51=) n.341G= n.328G= | |
20 | g.46725178G>T | CA409266431 | SLC2A10 | c.142G>T (p.Glu48Ter) n.294G>T c.205G>T (p.Glu69Ter) c.151G>T (p.Glu51Ter) n.341G>T n.328G>T | |
20 | g.46725179A>C | CA409266432 | SLC2A10 | c.143A>C (p.Glu48Ala) n.295A>C c.206A>C (p.Glu69Ala) c.152A>C (p.Glu51Ala) n.342A>C n.329A>C | |
20 | g.46725179A>G | CA409266433 | SLC2A10 | c.143A>G (p.Glu48Gly) n.295A>G c.206A>G (p.Glu69Gly) c.152A>G (p.Glu51Gly) n.342A>G n.329A>G | |
20 | g.46725179A>T | CA409266434 | SLC2A10 | c.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 |
20 | g.46725180G>A | CA10587932 | SLC2A10 | c.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 |
20 | g.46725180G>C | CA409266435 | SLC2A10 | c.144G>C (p.Glu48Asp) n.296G>C c.207G>C (p.Glu69Asp) c.153G>C (p.Glu51Asp) n.343G>C n.330G>C | |
20 | g.46725180G= | CA2366796068 | SLC2A10 | c.144G= (p.Glu48=) n.296G= c.207G= (p.Glu69=) c.153G= (p.Glu51=) n.343G= n.330G= | |
20 | g.46725180G>T | CA315755165 | SLC2A10 | c.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 |
20 | g.46725181T>A | CA323587 | SLC2A10 | c.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 |
20 | g.46725181T>C | CA409266437 | SLC2A10 | c.145T>C (p.Phe49Leu) n.297T>C c.208T>C (p.Phe70Leu) c.154T>C (p.Phe52Leu) n.344T>C n.331T>C | |
20 | g.46725181T>G | CA409266436 | SLC2A10 | c.145T>G (p.Phe49Val) n.297T>G c.208T>G (p.Phe70Val) c.154T>G (p.Phe52Val) n.344T>G n.331T>G | |
20 | g.46725181T= | CA2366796069 | SLC2A10 | c.145T= (p.Phe49=) n.297T= c.208T= (p.Phe70=) c.154T= (p.Phe52=) n.344T= n.331T= | |
20 | g.46725182T>A | CA409266438 | SLC2A10 | c.146T>A (p.Phe49Tyr) n.298T>A c.209T>A (p.Phe70Tyr) c.155T>A (p.Phe52Tyr) n.345T>A n.332T>A | |
20 | g.46725182T>C | CA409266439 | SLC2A10 | c.146T>C (p.Phe49Ser) n.298T>C c.209T>C (p.Phe70Ser) c.155T>C (p.Phe52Ser) n.345T>C n.332T>C | |
20 | g.46725182T>G | CA409266440 | SLC2A10 | c.146T>G (p.Phe49Cys) n.298T>G c.209T>G (p.Phe70Cys) c.155T>G (p.Phe52Cys) n.345T>G n.332T>G | |
20 | g.46725183C>A | CA409266441 | SLC2A10 | c.147C>A (p.Phe49Leu) n.299C>A c.210C>A (p.Phe70Leu) c.156C>A (p.Phe52Leu) n.346C>A n.333C>A | |
20 | g.46725183C= | CA2366796070 | SLC2A10 | c.147C= (p.Phe49=) n.299C= c.210C= (p.Phe70=) c.156C= (p.Phe52=) n.346C= n.333C= | |
20 | g.46725183C>G | CA409266442 | SLC2A10 | c.147C>G (p.Phe49Leu) n.299C>G c.210C>G (p.Phe70Leu) c.156C>G (p.Phe52Leu) n.346C>G n.333C>G | ClinVar dbSNP |
20 | g.46725183C>T | CA510847417 | SLC2A10 | c.147C>T (p.Phe49=) n.299C>T c.210C>T (p.Phe70=) c.156C>T (p.Phe52=) n.346C>T n.333C>T | COSMIC |
20 | g.46725184C>A | CA409266443 | SLC2A10 | c.148C>A (p.Leu50Met) n.300C>A c.211C>A (p.Leu71Met) c.157C>A (p.Leu53Met) n.347C>A n.334C>A | |
20 | g.46725184C>G | CA409266444 | SLC2A10 | c.148C>G (p.Leu50Val) n.300C>G c.211C>G (p.Leu71Val) c.157C>G (p.Leu53Val) n.347C>G n.334C>G | |
20 | g.46725184C>T | CA510847418 | SLC2A10 | c.148C>T (p.Leu50=) n.300C>T c.211C>T (p.Leu71=) c.157C>T (p.Leu53=) n.347C>T n.334C>T | gnomAD v4 |
20 | g.46725185T>A | CA409266445 | SLC2A10 | c.149T>A (p.Leu50Gln) n.301T>A c.212T>A (p.Leu71Gln) c.158T>A (p.Leu53Gln) n.348T>A n.335T>A | |
20 | g.46725185T>C | CA409266446 | SLC2A10 | c.149T>C (p.Leu50Pro) n.301T>C c.212T>C (p.Leu71Pro) c.158T>C (p.Leu53Pro) n.348T>C n.335T>C | dbSNP |
20 | g.46725185T>G | CA409266447 | SLC2A10 | c.149T>G (p.Leu50Arg) n.301T>G c.212T>G (p.Leu71Arg) c.158T>G (p.Leu53Arg) n.348T>G n.335T>G | |
20 | g.46725186G>A | CA510847419 | SLC2A10 | c.150G>A (p.Leu50=) n.302G>A c.213G>A (p.Leu71=) c.159G>A (p.Leu53=) n.349G>A n.336G>A | |
20 | g.46725186G>C | CA510847421 | SLC2A10 | c.150G>C (p.Leu50=) n.302G>C c.213G>C (p.Leu71=) c.159G>C (p.Leu53=) n.349G>C n.336G>C | |
20 | g.46725186G>T | CA510847420 | SLC2A10 | c.150G>T (p.Leu50=) n.302G>T c.213G>T (p.Leu71=) c.159G>T (p.Leu53=) n.349G>T n.336G>T | |
20 | g.46725187G>A | CA409266450 | SLC2A10 | c.151G>A (p.Val51Met) n.303G>A c.214G>A (p.Val72Met) c.160G>A (p.Val54Met) n.350G>A n.337G>A | |
20 | g.46725187G>C | CA409266449 | SLC2A10 | c.151G>C (p.Val51Leu) n.303G>C c.214G>C (p.Val72Leu) c.160G>C (p.Val54Leu) n.350G>C n.337G>C | |
20 | g.46725187G>T | CA409266448 | SLC2A10 | c.151G>T (p.Val51Leu) n.303G>T c.214G>T (p.Val72Leu) c.160G>T (p.Val54Leu) n.350G>T n.337G>T | |
20 | g.46725188T>A | CA409266451 | SLC2A10 | c.152T>A (p.Val51Glu) n.304T>A c.215T>A (p.Val72Glu) c.161T>A (p.Val54Glu) n.351T>A n.338T>A | |
20 | g.46725188T>C | CA409266452 | SLC2A10 | c.152T>C (p.Val51Ala) n.304T>C c.215T>C (p.Val72Ala) c.161T>C (p.Val54Ala) n.351T>C n.338T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.46725188T>G | CA409266453 | SLC2A10 | c.152T>G (p.Val51Gly) n.304T>G c.215T>G (p.Val72Gly) c.161T>G (p.Val54Gly) n.351T>G n.338T>G | |
20 | g.46725188T= | CA2366796071 | SLC2A10 | c.152T= (p.Val51=) n.304T= c.215T= (p.Val72=) c.161T= (p.Val54=) n.351T= n.338T= | |
20 | g.46725189G>A | CA510847422 | SLC2A10 | c.153G>A (p.Val51=) n.305G>A c.216G>A (p.Val72=) c.162G>A (p.Val54=) n.352G>A n.339G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725189G>C | CA510847423 | SLC2A10 | c.153G>C (p.Val51=) n.305G>C c.216G>C (p.Val72=) c.162G>C (p.Val54=) n.352G>C n.339G>C | |
20 | g.46725189G= | CA2366796072 | SLC2A10 | c.153G= (p.Val51=) n.305G= c.216G= (p.Val72=) c.162G= (p.Val54=) n.352G= n.339G= | |
20 | g.46725189G>T | CA510847424 | SLC2A10 | c.153G>T (p.Val51=) n.305G>T c.216G>T (p.Val72=) c.162G>T (p.Val54=) n.352G>T n.339G>T | |
20 | g.46725190G>A | CA409266454 | SLC2A10 | c.154G>A (p.Gly52Ser) n.306G>A c.217G>A (p.Gly73Ser) c.163G>A (p.Gly55Ser) n.353G>A n.340G>A | dbSNP |
20 | g.46725190G>C | CA409266455 | SLC2A10 | c.154G>C (p.Gly52Arg) n.306G>C c.217G>C (p.Gly73Arg) c.163G>C (p.Gly55Arg) n.353G>C n.340G>C | |
20 | g.46725190G= | CA2366796073 | SLC2A10 | c.154G= (p.Gly52=) n.306G= c.217G= (p.Gly73=) c.163G= (p.Gly55=) n.353G= n.340G= | |
20 | g.46725190G>T | CA409266456 | SLC2A10 | c.154G>T (p.Gly52Cys) n.306G>T c.217G>T (p.Gly73Cys) c.163G>T (p.Gly55Cys) n.353G>T n.340G>T |