| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.46725273C>A | CA9891933 | SLC2A10 | c.237C>A (p.Leu79=) n.389C>A c.300C>A (p.Leu100=) c.246C>A (p.Leu82=) n.436C>A n.423C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725273C= | CA2366796115 | SLC2A10 | c.237C= (p.Leu79=) n.389C= c.300C= (p.Leu100=) c.246C= (p.Leu82=) n.436C= n.423C= | |
| 20 | g.46725273C>G | CA510847482 | SLC2A10 | c.237C>G (p.Leu79=) n.389C>G c.300C>G (p.Leu100=) c.246C>G (p.Leu82=) n.436C>G n.423C>G | |
| 20 | g.46725273C>T | CA293543 | SLC2A10 | c.237C>T (p.Leu79=) n.389C>T c.300C>T (p.Leu100=) c.246C>T (p.Leu82=) n.436C>T n.423C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725274G>A | CA9891935 | SLC2A10 | c.238G>A (p.Gly80Arg) n.390G>A c.301G>A (p.Gly101Arg) c.247G>A (p.Gly83Arg) n.437G>A n.424G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725274G>C | CA409266628 | SLC2A10 | c.238G>C (p.Gly80Arg) n.390G>C c.301G>C (p.Gly101Arg) c.247G>C (p.Gly83Arg) n.437G>C n.424G>C | dbSNP gnomAD v4 |
| 20 | g.46725274G= | CA2366796116 | SLC2A10 | c.238G= (p.Gly80=) n.390G= c.301G= (p.Gly101=) c.247G= (p.Gly83=) n.437G= n.424G= | |
| 20 | g.46725274G>T | CA9891934 | SLC2A10 | c.238G>T (p.Gly80Trp) n.390G>T c.301G>T (p.Gly101Trp) c.247G>T (p.Gly83Trp) n.437G>T n.424G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.46725275G>A | CA409266629 | SLC2A10 | c.239G>A (p.Gly80Glu) n.391G>A c.302G>A (p.Gly101Glu) c.248G>A (p.Gly83Glu) n.438G>A n.425G>A | |
| 20 | g.46725275G>C | CA409266630 | SLC2A10 | c.239G>C (p.Gly80Ala) n.391G>C c.302G>C (p.Gly101Ala) c.248G>C (p.Gly83Ala) n.438G>C n.425G>C | |
| 20 | g.46725275G>T | CA409266631 | SLC2A10 | c.239G>T (p.Gly80Val) n.391G>T c.302G>T (p.Gly101Val) c.248G>T (p.Gly83Val) n.438G>T n.425G>T | |
| 20 | g.46725276G>A | CA9891936 | SLC2A10 | c.240G>A (p.Gly80=) n.392G>A c.303G>A (p.Gly101=) c.249G>A (p.Gly83=) n.439G>A n.426G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725276G>C | CA510847483 | SLC2A10 | c.240G>C (p.Gly80=) n.392G>C c.303G>C (p.Gly101=) c.249G>C (p.Gly83=) n.439G>C n.426G>C | |
| 20 | g.46725276G= | CA2366796117 | SLC2A10 | c.240G= (p.Gly80=) n.392G= c.303G= (p.Gly101=) c.249G= (p.Gly83=) n.439G= n.426G= | |
| 20 | g.46725276G>T | CA510847484 | SLC2A10 | c.240G>T (p.Gly80=) n.392G>T c.303G>T (p.Gly101=) c.249G>T (p.Gly83=) n.439G>T n.426G>T | |
| 20 | g.46725277A= | CA2366796118 | SLC2A10 | c.241A= (p.Ser81=) n.393A= c.304A= (p.Ser102=) c.250A= (p.Ser84=) n.440A= n.427A= | |
| 20 | g.46725277A>C | CA409266633 | SLC2A10 | c.241A>C (p.Ser81Arg) n.393A>C c.304A>C (p.Ser102Arg) c.250A>C (p.Ser84Arg) n.440A>C n.427A>C | gnomAD v4 |
| 20 | g.46725277A>G | CA315755338 | SLC2A10 | c.241A>G (p.Ser81Gly) n.393A>G c.304A>G (p.Ser102Gly) c.250A>G (p.Ser84Gly) n.440A>G n.427A>G | dbSNP |
| 20 | g.46725277A>T | CA409266632 | SLC2A10 | c.241A>T (p.Ser81Cys) n.393A>T c.304A>T (p.Ser102Cys) c.250A>T (p.Ser84Cys) n.440A>T n.427A>T | |
| 20 | g.46725278G>A | CA409266635 | SLC2A10 | c.242G>A (p.Ser81Asn) n.394G>A c.305G>A (p.Ser102Asn) c.251G>A (p.Ser84Asn) n.441G>A n.428G>A | gnomAD v4 |
| 20 | g.46725278G>C | CA409266634 | SLC2A10 | c.242G>C (p.Ser81Thr) n.394G>C c.305G>C (p.Ser102Thr) c.251G>C (p.Ser84Thr) n.441G>C n.428G>C | |
| 20 | g.46725278G>T | CA409266636 | SLC2A10 | c.242G>T (p.Ser81Ile) n.394G>T c.305G>T (p.Ser102Ile) c.251G>T (p.Ser84Ile) n.441G>T n.428G>T | |
| 20 | g.46725279C>A | CA409266637 | SLC2A10 | c.243C>A (p.Ser81Arg) n.395C>A c.306C>A (p.Ser102Arg) c.252C>A (p.Ser84Arg) n.442C>A n.429C>A | |
| 20 | g.46725279C= | CA2366796119 | SLC2A10 | c.243C= (p.Ser81=) n.395C= c.306C= (p.Ser102=) c.252C= (p.Ser84=) n.442C= n.429C= | |
| 20 | g.46725279C>G | CA340266 | SLC2A10 | c.243C>G (p.Ser81Arg) n.395C>G c.306C>G (p.Ser102Arg) c.252C>G (p.Ser84Arg) n.442C>G n.429C>G | ClinVar dbSNP gnomAD v4 |
| 20 | g.46725279C>T | CA510847485 | SLC2A10 | c.243C>T (p.Ser81=) n.395C>T c.306C>T (p.Ser102=) c.252C>T (p.Ser84=) n.442C>T n.429C>T | dbSNP |
| 20 | g.46725280A>C | CA409266638 | SLC2A10 | c.244A>C (p.Asn82His) n.396A>C c.307A>C (p.Asn103His) c.253A>C (p.Asn85His) n.443A>C n.430A>C | |
| 20 | g.46725280A>G | CA409266639 | SLC2A10 | c.244A>G (p.Asn82Asp) n.396A>G c.307A>G (p.Asn103Asp) c.253A>G (p.Asn85Asp) n.443A>G n.430A>G | |
| 20 | g.46725280A>T | CA409266640 | SLC2A10 | c.244A>T (p.Asn82Tyr) n.396A>T c.307A>T (p.Asn103Tyr) c.253A>T (p.Asn85Tyr) n.443A>T n.430A>T | |
| 20 | g.46725281A= | CA2366796120 | SLC2A10 | c.245A= (p.Asn82=) n.397A= c.308A= (p.Asn103=) c.254A= (p.Asn85=) n.444A= n.431A= | |
| 20 | g.46725281A>C | CA409266641 | SLC2A10 | c.245A>C (p.Asn82Thr) n.397A>C c.308A>C (p.Asn103Thr) c.254A>C (p.Asn85Thr) n.444A>C n.431A>C | |
| 20 | g.46725281A>G | CA9891938 | SLC2A10 | c.245A>G (p.Asn82Ser) n.397A>G c.308A>G (p.Asn103Ser) c.254A>G (p.Asn85Ser) n.444A>G n.431A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725281A>T | CA409266642 | SLC2A10 | c.245A>T (p.Asn82Ile) n.397A>T c.308A>T (p.Asn103Ile) c.254A>T (p.Asn85Ile) n.444A>T n.431A>T | |
| 20 | g.46725281_46725284delinsACTT | CA2366796121 | SLC2A10 | c.245_248delinsACTT (p.Asn82=) n.397_400delinsACTT c.308_311delinsACTT (p.Asn103=) c.254_257delinsACTT (p.Asn85=) n.444_447delinsACTT n.431_434delinsACTT | |
| 20 | g.46725282C>A | CA409266643 | SLC2A10 | c.246C>A (p.Asn82Lys) n.398C>A c.309C>A (p.Asn103Lys) c.255C>A (p.Asn85Lys) n.445C>A n.432C>A | gnomAD v4 |
| 20 | g.46725282C>G | CA409266644 | SLC2A10 | c.246C>G (p.Asn82Lys) n.398C>G c.309C>G (p.Asn103Lys) c.255C>G (p.Asn85Lys) n.445C>G n.432C>G | gnomAD v4 |
| 20 | g.46725282C>T | CA510847486 | SLC2A10 | c.246C>T (p.Asn82=) n.398C>T c.309C>T (p.Asn103=) c.255C>T (p.Asn85=) n.445C>T n.432C>T | ClinVar |
| 20 | g.46725282_46725284del | CA9891937 | SLC2A10 | c.246_248del (p.Asn82_Leu83delinsLys) n.398_400del c.309_311del (p.Asn103_Leu104delinsLys) c.255_257del (p.Asn85_Leu86delinsLys) n.445_447del n.432_434del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725283T>A | CA9891939 | SLC2A10 | c.247T>A (p.Leu83Met) n.399T>A c.310T>A (p.Leu104Met) c.256T>A (p.Leu86Met) n.446T>A n.433T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725283T>C | CA510847487 | SLC2A10 | c.247T>C (p.Leu83=) n.399T>C c.310T>C (p.Leu104=) c.256T>C (p.Leu86=) n.446T>C n.433T>C | gnomAD v4 |
| 20 | g.46725283T>G | CA409266645 | SLC2A10 | c.247T>G (p.Leu83Val) n.399T>G c.310T>G (p.Leu104Val) c.256T>G (p.Leu86Val) n.446T>G n.433T>G | |
| 20 | g.46725283T= | CA2366796122 | SLC2A10 | c.247T= (p.Leu83=) n.399T= c.310T= (p.Leu104=) c.256T= (p.Leu86=) n.446T= n.433T= | |
| 20 | g.46725284T>A | CA409266648 | SLC2A10 | c.248T>A (p.Leu83Ter) n.400T>A c.311T>A (p.Leu104Ter) c.257T>A (p.Leu86Ter) n.447T>A n.434T>A | |
| 20 | g.46725284T>C | CA409266646 | SLC2A10 | c.248T>C (p.Leu83Ser) n.400T>C c.311T>C (p.Leu104Ser) c.257T>C (p.Leu86Ser) n.447T>C n.434T>C | |
| 20 | g.46725284T>G | CA409266647 | SLC2A10 | c.248T>G (p.Leu83Trp) n.400T>G c.311T>G (p.Leu104Trp) c.257T>G (p.Leu86Trp) n.447T>G n.434T>G | |
| 20 | g.46725285G>A | CA510847488 | SLC2A10 | c.249G>A (p.Leu83=) n.401G>A c.312G>A (p.Leu104=) c.258G>A (p.Leu86=) n.448G>A n.435G>A | |
| 20 | g.46725285G>C | CA409266649 | SLC2A10 | c.249G>C (p.Leu83Phe) n.401G>C c.312G>C (p.Leu104Phe) c.258G>C (p.Leu86Phe) n.448G>C n.435G>C | |
| 20 | g.46725285G>T | CA409266650 | SLC2A10 | c.249G>T (p.Leu83Phe) n.401G>T c.312G>T (p.Leu104Phe) c.258G>T (p.Leu86Phe) n.448G>T n.435G>T | |
| 20 | g.46725286G>A | CA409266651 | SLC2A10 | c.250G>A (p.Val84Met) n.402G>A c.313G>A (p.Val105Met) c.259G>A (p.Val87Met) n.449G>A n.436G>A | |
| 20 | g.46725286G>C | CA409266652 | SLC2A10 | c.250G>C (p.Val84Leu) n.402G>C c.313G>C (p.Val105Leu) c.259G>C (p.Val87Leu) n.449G>C n.436G>C | dbSNP |