| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.46725314_46725331del | CA2653170733 | SLC2A10 | c.278_295del (p.Gly93_Leu98del) n.430_447del c.341_358del (p.Gly114_Leu119del) c.287_304del (p.Gly96_Leu101del) n.477_494del n.464_481del | gnomAD v4 |
| 20 | g.46725333_46725337del | CA2653170735 | SLC2A10 | c.297_301del (p.Trp100GlyfsTer?) n.449_453del c.360_364del (p.Trp121GlyfsTer?) c.306_310del (p.Trp103GlyfsTer?) n.496_500del n.483_487del | gnomAD v4 |
| 20 | g.46725330G>A | CA9891950 | SLC2A10 | c.294G>A (p.Leu98=) n.446G>A c.357G>A (p.Leu119=) c.303G>A (p.Leu101=) n.493G>A n.480G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725330G>C | CA510847528 | SLC2A10 | c.294G>C (p.Leu98=) n.446G>C c.357G>C (p.Leu119=) c.303G>C (p.Leu101=) n.493G>C n.480G>C | |
| 20 | g.46725330G= | CA2366796143 | SLC2A10 | c.294G= (p.Leu98=) n.446G= c.357G= (p.Leu119=) c.303G= (p.Leu101=) n.493G= n.480G= | |
| 20 | g.46725330G>T | CA510847529 | SLC2A10 | c.294G>T (p.Leu98=) n.446G>T c.357G>T (p.Leu119=) c.303G>T (p.Leu101=) n.493G>T n.480G>T | gnomAD v4 |
| 20 | g.46725331G>A | CA409266731 | SLC2A10 | c.295G>A (p.Ala99Thr) n.447G>A c.358G>A (p.Ala120Thr) c.304G>A (p.Ala102Thr) n.494G>A n.481G>A | dbSNP gnomAD v4 |
| 20 | g.46725331G>C | CA409266732 | SLC2A10 | c.295G>C (p.Ala99Pro) n.447G>C c.358G>C (p.Ala120Pro) c.304G>C (p.Ala102Pro) n.494G>C n.481G>C | |
| 20 | g.46725331G= | CA2366796144 | SLC2A10 | c.295G= (p.Ala99=) n.447G= c.358G= (p.Ala120=) c.304G= (p.Ala102=) n.494G= n.481G= | |
| 20 | g.46725331G>T | CA409266733 | SLC2A10 | c.295G>T (p.Ala99Ser) n.447G>T c.358G>T (p.Ala120Ser) c.304G>T (p.Ala102Ser) n.494G>T n.481G>T | dbSNP gnomAD v4 |
| 20 | g.46725331_46725341delinsGCCTGGCTGGT | CA2366796145 | SLC2A10 | c.295_305delinsGCCTGGCTGGT (p.Ala99=) n.447_457delinsGCCTGGCTGGT c.358_368delinsGCCTGGCTGGT (p.Ala120=) c.304_314delinsGCCTGGCTGGT (p.Ala102=) n.494_504delinsGCCTGGCTGGT n.481_491delinsGCCTGGCTGGT | |
| 20 | g.46725332C>A | CA409266736 | SLC2A10 | c.296C>A (p.Ala99Asp) n.448C>A c.359C>A (p.Ala120Asp) c.305C>A (p.Ala102Asp) n.495C>A n.482C>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46725332C= | CA2366796147 | SLC2A10 | c.296C= (p.Ala99=) n.448C= c.359C= (p.Ala120=) c.305C= (p.Ala102=) n.495C= n.482C= | |
| 20 | g.46725332C>G | CA409266735 | SLC2A10 | c.296C>G (p.Ala99Gly) n.448C>G c.359C>G (p.Ala120Gly) c.305C>G (p.Ala102Gly) n.495C>G n.482C>G | dbSNP gnomAD v4 |
| 20 | g.46725332C>T | CA409266734 | SLC2A10 | c.296C>T (p.Ala99Val) n.448C>T c.359C>T (p.Ala120Val) c.305C>T (p.Ala102Val) n.495C>T n.482C>T | ClinVar gnomAD v4 COSMIC |
| 20 | g.46725337_46725346del | CA2366796146 | SLC2A10 | c.301_310del (p.Leu101AlafsTer?) n.453_462del c.364_373del (p.Leu122AlafsTer?) c.310_319del (p.Leu104AlafsTer?) n.500_509del n.487_496del | dbSNP |
| 20 | g.46725333C>A | CA510847530 | SLC2A10 | c.297C>A (p.Ala99=) n.449C>A c.360C>A (p.Ala120=) c.306C>A (p.Ala102=) n.496C>A n.483C>A | |
| 20 | g.46725333C= | CA2366796148 | SLC2A10 | c.297C= (p.Ala99=) n.449C= c.360C= (p.Ala120=) c.306C= (p.Ala102=) n.496C= n.483C= | |
| 20 | g.46725333C>G | CA510847531 | SLC2A10 | c.297C>G (p.Ala99=) n.449C>G c.360C>G (p.Ala120=) c.306C>G (p.Ala102=) n.496C>G n.483C>G | dbSNP |
| 20 | g.46725333C>T | CA510847532 | SLC2A10 | c.297C>T (p.Ala99=) n.449C>T c.360C>T (p.Ala120=) c.306C>T (p.Ala102=) n.496C>T n.483C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46725334T>A | CA409266737 | SLC2A10 | c.298T>A (p.Trp100Arg) n.450T>A c.361T>A (p.Trp121Arg) c.307T>A (p.Trp103Arg) n.497T>A n.484T>A | |
| 20 | g.46725334T>C | CA409266738 | SLC2A10 | c.298T>C (p.Trp100Arg) n.450T>C c.361T>C (p.Trp121Arg) c.307T>C (p.Trp103Arg) n.497T>C n.484T>C | |
| 20 | g.46725334T>G | CA409266739 | SLC2A10 | c.298T>G (p.Trp100Gly) n.450T>G c.361T>G (p.Trp121Gly) c.307T>G (p.Trp103Gly) n.497T>G n.484T>G | |
| 20 | g.46725335G>A | CA409266740 | SLC2A10 | c.299G>A (p.Trp100Ter) n.451G>A c.362G>A (p.Trp121Ter) c.308G>A (p.Trp103Ter) n.498G>A n.485G>A | dbSNP |
| 20 | g.46725335G>C | CA409266741 | SLC2A10 | c.299G>C (p.Trp100Ser) n.451G>C c.362G>C (p.Trp121Ser) c.308G>C (p.Trp103Ser) n.498G>C n.485G>C | |
| 20 | g.46725335G= | CA2366796149 | SLC2A10 | c.299G= (p.Trp100=) n.451G= c.362G= (p.Trp121=) c.308G= (p.Trp103=) n.498G= n.485G= | |
| 20 | g.46725335G>T | CA409266742 | SLC2A10 | c.299G>T (p.Trp100Leu) n.451G>T c.362G>T (p.Trp121Leu) c.308G>T (p.Trp103Leu) n.498G>T n.485G>T | |
| 20 | g.46725336G>A | CA409266743 | SLC2A10 | c.300G>A (p.Trp100Ter) n.452G>A c.363G>A (p.Trp121Ter) c.309G>A (p.Trp103Ter) n.499G>A n.486G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725336G>C | CA10649790 | SLC2A10 | c.300G>C (p.Trp100Cys) n.452G>C c.363G>C (p.Trp121Cys) c.309G>C (p.Trp103Cys) n.499G>C n.486G>C | ClinVar dbSNP |
| 20 | g.46725336G= | CA2366796150 | SLC2A10 | c.300G= (p.Trp100=) n.452G= c.363G= (p.Trp121=) c.309G= (p.Trp103=) n.499G= n.486G= | |
| 20 | g.46725336G>T | CA409266744 | SLC2A10 | c.300G>T (p.Trp100Cys) n.452G>T c.363G>T (p.Trp121Cys) c.309G>T (p.Trp103Cys) n.499G>T n.486G>T | |
| 20 | g.46725337C>A | CA409266745 | SLC2A10 | c.301C>A (p.Leu101Met) n.453C>A c.364C>A (p.Leu122Met) c.310C>A (p.Leu104Met) n.500C>A n.487C>A | |
| 20 | g.46725337C>G | CA409266746 | SLC2A10 | c.301C>G (p.Leu101Val) n.453C>G c.364C>G (p.Leu122Val) c.310C>G (p.Leu104Val) n.500C>G n.487C>G | |
| 20 | g.46725337C>T | CA510847533 | SLC2A10 | c.301C>T (p.Leu101=) n.453C>T c.364C>T (p.Leu122=) c.310C>T (p.Leu104=) n.500C>T n.487C>T | |
| 20 | g.46725338T>A | CA409266747 | SLC2A10 | c.302T>A (p.Leu101Gln) n.454T>A c.365T>A (p.Leu122Gln) c.311T>A (p.Leu104Gln) n.501T>A n.488T>A | |
| 20 | g.46725338T>C | CA409266748 | SLC2A10 | c.302T>C (p.Leu101Pro) n.454T>C c.365T>C (p.Leu122Pro) c.311T>C (p.Leu104Pro) n.501T>C n.488T>C | |
| 20 | g.46725338T>G | CA409266749 | SLC2A10 | c.302T>G (p.Leu101Arg) n.454T>G c.365T>G (p.Leu122Arg) c.311T>G (p.Leu104Arg) n.501T>G n.488T>G | |
| 20 | g.46725339G>A | CA9891951 | SLC2A10 | c.303G>A (p.Leu101=) n.455G>A c.366G>A (p.Leu122=) c.312G>A (p.Leu104=) n.502G>A n.489G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725339G>C | CA510847534 | SLC2A10 | c.303G>C (p.Leu101=) n.455G>C c.366G>C (p.Leu122=) c.312G>C (p.Leu104=) n.502G>C n.489G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725339G= | CA2366796151 | SLC2A10 | c.303G= (p.Leu101=) n.455G= c.366G= (p.Leu122=) c.312G= (p.Leu104=) n.502G= n.489G= | |
| 20 | g.46725339G>T | CA9891952 | SLC2A10 | c.303G>T (p.Leu101=) n.455G>T c.366G>T (p.Leu122=) c.312G>T (p.Leu104=) n.502G>T n.489G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725340G>A | CA409266752 | SLC2A10 | c.304G>A (p.Val102Ile) n.456G>A c.367G>A (p.Val123Ile) c.313G>A (p.Val105Ile) n.503G>A n.490G>A | |
| 20 | g.46725340G>C | CA409266751 | SLC2A10 | c.304G>C (p.Val102Leu) n.456G>C c.367G>C (p.Val123Leu) c.313G>C (p.Val105Leu) n.503G>C n.490G>C | gnomAD v4 |
| 20 | g.46725340G>T | CA409266750 | SLC2A10 | c.304G>T (p.Val102Phe) n.456G>T c.367G>T (p.Val123Phe) c.313G>T (p.Val105Phe) n.503G>T n.490G>T | COSMIC |
| 20 | g.46725341T>A | CA409266753 | SLC2A10 | c.305T>A (p.Val102Asp) n.457T>A c.368T>A (p.Val123Asp) c.314T>A (p.Val105Asp) n.504T>A n.491T>A | |
| 20 | g.46725341T>C | CA409266754 | SLC2A10 | c.305T>C (p.Val102Ala) n.457T>C c.368T>C (p.Val123Ala) c.314T>C (p.Val105Ala) n.504T>C n.491T>C | |
| 20 | g.46725341T>G | CA409266755 | SLC2A10 | c.305T>G (p.Val102Gly) n.457T>G c.368T>G (p.Val123Gly) c.314T>G (p.Val105Gly) n.504T>G n.491T>G | |
| 20 | g.46725342C>A | CA510847535 | SLC2A10 | c.306C>A (p.Val102=) n.458C>A c.369C>A (p.Val123=) c.315C>A (p.Val105=) n.505C>A n.492C>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46725342C= | CA2366796152 | SLC2A10 | c.306C= (p.Val102=) n.458C= c.369C= (p.Val123=) c.315C= (p.Val105=) n.505C= n.492C= | |
| 20 | g.46725342C>G | CA510847536 | SLC2A10 | c.306C>G (p.Val102=) n.458C>G c.369C>G (p.Val123=) c.315C>G (p.Val105=) n.505C>G n.492C>G |