Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.46725379_46725868delinsC | CA2697547414 | SLC2A10 | c.343_832delinsC (p.Ser115_Ala278delinsPro) c.406_895delinsC (p.Ser136_Ala299delinsPro) c.352_841delinsC (p.Ser118_Ala281delinsPro) n.542_1031delinsC n.529_1018delinsC | ClinVar |
20 | g.46725467C>A | CA409266995 | SLC2A10 | c.431C>A (p.Thr144Asn) n.583C>A c.494C>A (p.Thr165Asn) c.440C>A (p.Thr147Asn) n.630C>A n.617C>A | dbSNP |
20 | g.46725467C= | CA2366796218 | SLC2A10 | c.431C= (p.Thr144=) n.583C= c.494C= (p.Thr165=) c.440C= (p.Thr147=) n.630C= n.617C= | |
20 | g.46725467C>G | CA409266996 | SLC2A10 | c.431C>G (p.Thr144Ser) n.583C>G c.494C>G (p.Thr165Ser) c.440C>G (p.Thr147Ser) n.630C>G n.617C>G | |
20 | g.46725467C>T | CA9891973 | SLC2A10 | c.431C>T (p.Thr144Ile) n.583C>T c.494C>T (p.Thr165Ile) c.440C>T (p.Thr147Ile) n.630C>T n.617C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725468C>A | CA9891975 | SLC2A10 | c.432C>A (p.Thr144=) n.584C>A c.495C>A (p.Thr165=) c.441C>A (p.Thr147=) n.631C>A n.618C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725468C= | CA2366796219 | SLC2A10 | c.432C= (p.Thr144=) n.584C= c.495C= (p.Thr165=) c.441C= (p.Thr147=) n.631C= n.618C= | |
20 | g.46725468C>G | CA510847634 | SLC2A10 | c.432C>G (p.Thr144=) n.584C>G c.495C>G (p.Thr165=) c.441C>G (p.Thr147=) n.631C>G n.618C>G | dbSNP |
20 | g.46725468C>T | CA9891974 | SLC2A10 | c.432C>T (p.Thr144=) n.584C>T c.495C>T (p.Thr165=) c.441C>T (p.Thr147=) n.631C>T n.618C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725469G>A | CA9891976 | SLC2A10 | c.433G>A (p.Val145Met) n.585G>A c.496G>A (p.Val166Met) c.442G>A (p.Val148Met) n.632G>A n.619G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725469G>C | CA409266998 | SLC2A10 | c.433G>C (p.Val145Leu) n.585G>C c.496G>C (p.Val166Leu) c.442G>C (p.Val148Leu) n.632G>C n.619G>C | |
20 | g.46725469G= | CA2366796220 | SLC2A10 | c.433G= (p.Val145=) n.585G= c.496G= (p.Val166=) c.442G= (p.Val148=) n.632G= n.619G= | |
20 | g.46725469G>T | CA409266997 | SLC2A10 | c.433G>T (p.Val145Leu) n.585G>T c.496G>T (p.Val166Leu) c.442G>T (p.Val148Leu) n.632G>T n.619G>T | |
20 | g.46725470T>A | CA409266999 | SLC2A10 | c.434T>A (p.Val145Glu) n.586T>A c.497T>A (p.Val166Glu) c.443T>A (p.Val148Glu) n.633T>A n.620T>A | |
20 | g.46725470T>C | CA315755638 | SLC2A10 | c.434T>C (p.Val145Ala) n.586T>C c.497T>C (p.Val166Ala) c.443T>C (p.Val148Ala) n.633T>C n.620T>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.46725470T>G | CA409267000 | SLC2A10 | c.434T>G (p.Val145Gly) n.586T>G c.497T>G (p.Val166Gly) c.443T>G (p.Val148Gly) n.633T>G n.620T>G | |
20 | g.46725470T= | CA2366796221 | SLC2A10 | c.434T= (p.Val145=) n.586T= c.497T= (p.Val166=) c.443T= (p.Val148=) n.633T= n.620T= | |
20 | g.46725471G>A | CA315755642 | SLC2A10 | c.435G>A (p.Val145=) c.498G>A (p.Val166=) c.444G>A (p.Val148=) n.634G>A n.621G>A | dbSNP |
20 | g.46725471G>C | CA510847636 | SLC2A10 | c.435G>C (p.Val145=) c.498G>C (p.Val166=) c.444G>C (p.Val148=) n.634G>C n.621G>C | |
20 | g.46725471G= | CA2366796222 | SLC2A10 | c.435G= (p.Val145=) c.498G= (p.Val166=) c.444G= (p.Val148=) n.634G= n.621G= | |
20 | g.46725471G>T | CA510847635 | SLC2A10 | c.435G>T (p.Val145=) c.498G>T (p.Val166=) c.444G>T (p.Val148=) n.634G>T n.621G>T | |
20 | g.46725472G>A | CA409267001 | SLC2A10 | c.436G>A (p.Gly146Ser) c.499G>A (p.Gly167Ser) c.445G>A (p.Gly149Ser) n.635G>A n.622G>A | |
20 | g.46725472G>C | CA409267002 | SLC2A10 | c.436G>C (p.Gly146Arg) c.499G>C (p.Gly167Arg) c.445G>C (p.Gly149Arg) n.635G>C n.622G>C | |
20 | g.46725472G>T | CA409267003 | SLC2A10 | c.436G>T (p.Gly146Cys) c.499G>T (p.Gly167Cys) c.445G>T (p.Gly149Cys) n.635G>T n.622G>T | |
20 | g.46725473G>A | CA315755648 | SLC2A10 | c.437G>A (p.Gly146Asp) c.500G>A (p.Gly167Asp) c.446G>A (p.Gly149Asp) n.636G>A n.623G>A | dbSNP gnomAD v4 COSMIC |
20 | g.46725473G>C | CA409267004 | SLC2A10 | c.437G>C (p.Gly146Ala) c.500G>C (p.Gly167Ala) c.446G>C (p.Gly149Ala) n.636G>C n.623G>C | |
20 | g.46725473G= | CA2366796223 | SLC2A10 | c.437G= (p.Gly146=) c.500G= (p.Gly167=) c.446G= (p.Gly149=) n.636G= n.623G= | |
20 | g.46725473G>T | CA409267005 | SLC2A10 | c.437G>T (p.Gly146Val) c.500G>T (p.Gly167Val) c.446G>T (p.Gly149Val) n.636G>T n.623G>T | gnomAD v4 |
20 | g.46725474C>A | CA510847637 | SLC2A10 | c.438C>A (p.Gly146=) c.501C>A (p.Gly167=) c.447C>A (p.Gly149=) n.637C>A n.624C>A | |
20 | g.46725474C>G | CA510847638 | SLC2A10 | c.438C>G (p.Gly146=) c.501C>G (p.Gly167=) c.447C>G (p.Gly149=) n.637C>G n.624C>G | |
20 | g.46725474C>T | CA510847639 | SLC2A10 | c.438C>T (p.Gly146=) c.501C>T (p.Gly167=) c.447C>T (p.Gly149=) n.637C>T n.624C>T | gnomAD v4 COSMIC |
20 | g.46725475A>C | CA409267006 | SLC2A10 | c.439A>C (p.Ile147Leu) c.502A>C (p.Ile168Leu) c.448A>C (p.Ile150Leu) n.638A>C n.625A>C | |
20 | g.46725475A>G | CA409267007 | SLC2A10 | c.439A>G (p.Ile147Val) c.502A>G (p.Ile168Val) c.448A>G (p.Ile150Val) n.638A>G n.625A>G | |
20 | g.46725475A>T | CA409267008 | SLC2A10 | c.439A>T (p.Ile147Phe) c.502A>T (p.Ile168Phe) c.448A>T (p.Ile150Phe) n.638A>T n.625A>T | |
20 | g.46725476T>A | CA409267009 | SLC2A10 | c.440T>A (p.Ile147Asn) c.503T>A (p.Ile168Asn) c.449T>A (p.Ile150Asn) n.639T>A n.626T>A | |
20 | g.46725476T>C | CA409267010 | SLC2A10 | c.440T>C (p.Ile147Thr) c.503T>C (p.Ile168Thr) c.449T>C (p.Ile150Thr) n.639T>C n.626T>C | |
20 | g.46725476T>G | CA409267011 | SLC2A10 | c.440T>G (p.Ile147Ser) c.503T>G (p.Ile168Ser) c.449T>G (p.Ile150Ser) n.639T>G n.626T>G | |
20 | g.46725477C>A | CA510847640 | SLC2A10 | c.441C>A (p.Ile147=) c.504C>A (p.Ile168=) c.450C>A (p.Ile150=) n.640C>A n.627C>A | |
20 | g.46725477C>G | CA409267012 | SLC2A10 | c.441C>G (p.Ile147Met) c.504C>G (p.Ile168Met) c.450C>G (p.Ile150Met) n.640C>G n.627C>G | |
20 | g.46725477C>T | CA510847641 | SLC2A10 | c.441C>T (p.Ile147=) c.504C>T (p.Ile168=) c.450C>T (p.Ile150=) n.640C>T n.627C>T | gnomAD v4 COSMIC |
20 | g.46725478C>A | CA409267013 | SLC2A10 | c.442C>A (p.Leu148Met) c.505C>A (p.Leu169Met) c.451C>A (p.Leu151Met) n.641C>A n.628C>A | |
20 | g.46725478C>G | CA409267014 | SLC2A10 | c.442C>G (p.Leu148Val) c.505C>G (p.Leu169Val) c.451C>G (p.Leu151Val) n.641C>G n.628C>G | |
20 | g.46725478C>T | CA510847642 | SLC2A10 | c.442C>T (p.Leu148=) c.505C>T (p.Leu169=) c.451C>T (p.Leu151=) n.641C>T n.628C>T | gnomAD v4 |
20 | g.46725479T>A | CA409267015 | SLC2A10 | c.443T>A (p.Leu148Gln) c.506T>A (p.Leu169Gln) c.452T>A (p.Leu151Gln) n.642T>A n.629T>A | |
20 | g.46725479T>C | CA321509 | SLC2A10 | c.443T>C (p.Leu148Pro) c.506T>C (p.Leu169Pro) c.452T>C (p.Leu151Pro) n.642T>C n.629T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725479T>G | CA409267016 | SLC2A10 | c.443T>G (p.Leu148Arg) c.506T>G (p.Leu169Arg) c.452T>G (p.Leu151Arg) n.642T>G n.629T>G | |
20 | g.46725479T= | CA2366796224 | SLC2A10 | c.443T= (p.Leu148=) c.506T= (p.Leu169=) c.452T= (p.Leu151=) n.642T= n.629T= | |
20 | g.46725480G>A | CA510847643 | SLC2A10 | c.444G>A (p.Leu148=) c.507G>A (p.Leu169=) c.453G>A (p.Leu151=) n.643G>A n.630G>A | gnomAD v4 |
20 | g.46725480G>C | CA510847644 | SLC2A10 | c.444G>C (p.Leu148=) c.507G>C (p.Leu169=) c.453G>C (p.Leu151=) n.643G>C n.630G>C | |
20 | g.46725480G>T | CA510847645 | SLC2A10 | c.444G>T (p.Leu148=) c.507G>T (p.Leu169=) c.453G>T (p.Leu151=) n.643G>T n.630G>T | |
20 | g.46725481C>A | CA409267017 | SLC2A10 | c.445C>A (p.Leu149Ile) c.508C>A (p.Leu170Ile) c.454C>A (p.Leu152Ile) n.644C>A n.631C>A | |
20 | g.46725481C>G | CA409267019 | SLC2A10 | c.445C>G (p.Leu149Val) c.508C>G (p.Leu170Val) c.454C>G (p.Leu152Val) n.644C>G n.631C>G | |
20 | g.46725481C>T | CA409267018 | SLC2A10 | c.445C>T (p.Leu149Phe) c.508C>T (p.Leu170Phe) c.454C>T (p.Leu152Phe) n.644C>T n.631C>T | |
20 | g.46725482T>A | CA409267020 | SLC2A10 | c.446T>A (p.Leu149His) c.509T>A (p.Leu170His) c.455T>A (p.Leu152His) n.645T>A n.632T>A | |
20 | g.46725482T>C | CA409267022 | SLC2A10 | c.446T>C (p.Leu149Pro) c.509T>C (p.Leu170Pro) c.455T>C (p.Leu152Pro) n.645T>C n.632T>C | |
20 | g.46725482T>G | CA409267021 | SLC2A10 | c.446T>G (p.Leu149Arg) c.509T>G (p.Leu170Arg) c.455T>G (p.Leu152Arg) n.645T>G n.632T>G | |
20 | g.46725483C>A | CA510847646 | SLC2A10 | c.447C>A (p.Leu149=) c.510C>A (p.Leu170=) c.456C>A (p.Leu152=) n.646C>A n.633C>A | |
20 | g.46725483C= | CA2366796225 | SLC2A10 | c.447C= (p.Leu149=) c.510C= (p.Leu170=) c.456C= (p.Leu152=) n.646C= n.633C= | |
20 | g.46725483C>G | CA510847648 | SLC2A10 | c.447C>G (p.Leu149=) c.510C>G (p.Leu170=) c.456C>G (p.Leu152=) n.646C>G n.633C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725483C>T | CA510847647 | SLC2A10 | c.447C>T (p.Leu149=) c.510C>T (p.Leu170=) c.456C>T (p.Leu152=) n.646C>T n.633C>T | dbSNP gnomAD v4 |
20 | g.46725484T>A | CA409267023 | SLC2A10 | c.448T>A (p.Ser150Thr) c.511T>A (p.Ser171Thr) c.457T>A (p.Ser153Thr) n.647T>A n.634T>A | |
20 | g.46725484T>C | CA409267024 | SLC2A10 | c.448T>C (p.Ser150Pro) c.511T>C (p.Ser171Pro) c.457T>C (p.Ser153Pro) n.647T>C n.634T>C | |
20 | g.46725484T>G | CA409267025 | SLC2A10 | c.448T>G (p.Ser150Ala) c.511T>G (p.Ser171Ala) c.457T>G (p.Ser153Ala) n.647T>G n.634T>G | |
20 | g.46725485C>A | CA409267026 | SLC2A10 | c.449C>A (p.Ser150Tyr) c.512C>A (p.Ser171Tyr) c.458C>A (p.Ser153Tyr) n.648C>A n.635C>A | |
20 | g.46725485C>G | CA409267027 | SLC2A10 | c.449C>G (p.Ser150Cys) c.512C>G (p.Ser171Cys) c.458C>G (p.Ser153Cys) n.648C>G n.635C>G | |
20 | g.46725485C>T | CA409267028 | SLC2A10 | c.449C>T (p.Ser150Phe) c.512C>T (p.Ser171Phe) c.458C>T (p.Ser153Phe) n.648C>T n.635C>T | |
20 | g.46725485_46725497delinsCCTATGCCCTCAA | CA2366796226 | SLC2A10 | c.449_461delinsCCTATGCCCTCAA (p.Ser150=) c.512_524delinsCCTATGCCCTCAA (p.Ser171=) c.458_470delinsCCTATGCCCTCAA (p.Ser153=) n.648_660delinsCCTATGCCCTCAA n.635_647delinsCCTATGCCCTCAA | |
20 | g.46725486C>A | CA510847649 | SLC2A10 | c.450C>A (p.Ser150=) c.513C>A (p.Ser171=) c.459C>A (p.Ser153=) n.649C>A n.636C>A | |
20 | g.46725486C>G | CA510847650 | SLC2A10 | c.450C>G (p.Ser150=) c.513C>G (p.Ser171=) c.459C>G (p.Ser153=) n.649C>G n.636C>G | dbSNP |
20 | g.46725486C>T | CA510847651 | SLC2A10 | c.450C>T (p.Ser150=) c.513C>T (p.Ser171=) c.459C>T (p.Ser153=) n.649C>T n.636C>T | gnomAD v4 |
20 | g.46725492_46725503del | CA636177761 | SLC2A10 | c.456_467del (p.Leu153_Ala156del) c.519_530del (p.Leu174_Ala177del) c.465_476del (p.Leu156_Ala159del) n.655_666del n.642_653del | dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725487T>A | CA409267029 | SLC2A10 | c.451T>A (p.Tyr151Asn) c.514T>A (p.Tyr172Asn) c.460T>A (p.Tyr154Asn) n.650T>A n.637T>A | |
20 | g.46725487T>C | CA409267030 | SLC2A10 | c.451T>C (p.Tyr151His) c.514T>C (p.Tyr172His) c.460T>C (p.Tyr154His) n.650T>C n.637T>C | |
20 | g.46725487T>G | CA409267031 | SLC2A10 | c.451T>G (p.Tyr151Asp) c.514T>G (p.Tyr172Asp) c.460T>G (p.Tyr154Asp) n.650T>G n.637T>G | |
20 | g.46725488A>C | CA409267032 | SLC2A10 | c.452A>C (p.Tyr151Ser) c.515A>C (p.Tyr172Ser) c.461A>C (p.Tyr154Ser) n.651A>C n.638A>C | |
20 | g.46725488A>G | CA409267033 | SLC2A10 | c.452A>G (p.Tyr151Cys) c.515A>G (p.Tyr172Cys) c.461A>G (p.Tyr154Cys) n.651A>G n.638A>G | gnomAD v4 |
20 | g.46725488A>T | CA409267034 | SLC2A10 | c.452A>T (p.Tyr151Phe) c.515A>T (p.Tyr172Phe) c.461A>T (p.Tyr154Phe) n.651A>T n.638A>T | |
20 | g.46725489T>A | CA409267036 | SLC2A10 | c.453T>A (p.Tyr151Ter) c.516T>A (p.Tyr172Ter) c.462T>A (p.Tyr154Ter) n.652T>A n.639T>A | |
20 | g.46725489T>C | CA510847652 | SLC2A10 | c.453T>C (p.Tyr151=) c.516T>C (p.Tyr172=) c.462T>C (p.Tyr154=) n.652T>C n.639T>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725489T>G | CA409267035 | SLC2A10 | c.453T>G (p.Tyr151Ter) c.516T>G (p.Tyr172Ter) c.462T>G (p.Tyr154Ter) n.652T>G n.639T>G | |
20 | g.46725489T= | CA2366796227 | SLC2A10 | c.453T= (p.Tyr151=) c.516T= (p.Tyr172=) c.462T= (p.Tyr154=) n.652T= n.639T= | |
20 | g.46725490G>A | CA409267037 | SLC2A10 | c.454G>A (p.Ala152Thr) c.517G>A (p.Ala173Thr) c.463G>A (p.Ala155Thr) n.653G>A n.640G>A | |
20 | g.46725490G>C | CA409267038 | SLC2A10 | c.454G>C (p.Ala152Pro) c.517G>C (p.Ala173Pro) c.463G>C (p.Ala155Pro) n.653G>C n.640G>C | |
20 | g.46725490G>T | CA409267039 | SLC2A10 | c.454G>T (p.Ala152Ser) c.517G>T (p.Ala173Ser) c.463G>T (p.Ala155Ser) n.653G>T n.640G>T | |
20 | g.46725491C>A | CA409267040 | SLC2A10 | c.455C>A (p.Ala152Asp) c.518C>A (p.Ala173Asp) c.464C>A (p.Ala155Asp) n.654C>A n.641C>A | |
20 | g.46725491C= | CA2366796228 | SLC2A10 | c.455C= (p.Ala152=) c.518C= (p.Ala173=) c.464C= (p.Ala155=) n.654C= n.641C= | |
20 | g.46725491C>G | CA409267041 | SLC2A10 | c.455C>G (p.Ala152Gly) c.518C>G (p.Ala173Gly) c.464C>G (p.Ala155Gly) n.654C>G n.641C>G | |
20 | g.46725491C>T | CA9891977 | SLC2A10 | c.455C>T (p.Ala152Val) c.518C>T (p.Ala173Val) c.464C>T (p.Ala155Val) n.654C>T n.641C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.46725492C>A | CA510847653 | SLC2A10 | c.456C>A (p.Ala152=) c.519C>A (p.Ala173=) c.465C>A (p.Ala155=) n.655C>A n.642C>A | |
20 | g.46725492C>G | CA510847654 | SLC2A10 | c.456C>G (p.Ala152=) c.519C>G (p.Ala173=) c.465C>G (p.Ala155=) n.655C>G n.642C>G | |
20 | g.46725492C>T | CA510847655 | SLC2A10 | c.456C>T (p.Ala152=) c.519C>T (p.Ala173=) c.465C>T (p.Ala155=) n.655C>T n.642C>T | gnomAD v4 |
20 | g.46725493C>A | CA409267042 | SLC2A10 | c.457C>A (p.Leu153Ile) c.520C>A (p.Leu174Ile) c.466C>A (p.Leu156Ile) n.656C>A n.643C>A | |
20 | g.46725493C>G | CA409267043 | SLC2A10 | c.457C>G (p.Leu153Val) c.520C>G (p.Leu174Val) c.466C>G (p.Leu156Val) n.656C>G n.643C>G | |
20 | g.46725493C>T | CA409267044 | SLC2A10 | c.457C>T (p.Leu153Phe) c.520C>T (p.Leu174Phe) c.466C>T (p.Leu156Phe) n.656C>T n.643C>T | gnomAD v4 |
20 | g.46725494T>A | CA409267045 | SLC2A10 | c.458T>A (p.Leu153His) c.521T>A (p.Leu174His) c.467T>A (p.Leu156His) n.657T>A n.644T>A | |
20 | g.46725494T>C | CA409267046 | SLC2A10 | c.458T>C (p.Leu153Pro) c.521T>C (p.Leu174Pro) c.467T>C (p.Leu156Pro) n.657T>C n.644T>C | dbSNP |
20 | g.46725494T>G | CA409267047 | SLC2A10 | c.458T>G (p.Leu153Arg) c.521T>G (p.Leu174Arg) c.467T>G (p.Leu156Arg) n.657T>G n.644T>G | |
20 | g.46725494T= | CA2366796229 | SLC2A10 | c.458T= (p.Leu153=) c.521T= (p.Leu174=) c.467T= (p.Leu156=) n.657T= n.644T= | |
20 | g.46725495C>A | CA510847656 | SLC2A10 | c.459C>A (p.Leu153=) c.522C>A (p.Leu174=) c.468C>A (p.Leu156=) n.658C>A n.645C>A | |
20 | g.46725495C= | CA2366796230 | SLC2A10 | c.459C= (p.Leu153=) c.522C= (p.Leu174=) c.468C= (p.Leu156=) n.658C= n.645C= | |
20 | g.46725495C>G | CA510847657 | SLC2A10 | c.459C>G (p.Leu153=) c.522C>G (p.Leu174=) c.468C>G (p.Leu156=) n.658C>G n.645C>G | dbSNP |
20 | g.46725495C>T | CA510847658 | SLC2A10 | c.459C>T (p.Leu153=) c.522C>T (p.Leu174=) c.468C>T (p.Leu156=) n.658C>T n.645C>T | |
20 | g.46725496A= | CA2366796231 | SLC2A10 | c.460A= (p.Asn154=) c.523A= (p.Asn175=) c.469A= (p.Asn157=) n.659A= n.646A= | |
20 | g.46725496A>C | CA409267049 | SLC2A10 | c.460A>C (p.Asn154His) c.523A>C (p.Asn175His) c.469A>C (p.Asn157His) n.659A>C n.646A>C | |
20 | g.46725496A>G | CA9891978 | SLC2A10 | c.460A>G (p.Asn154Asp) c.523A>G (p.Asn175Asp) c.469A>G (p.Asn157Asp) n.659A>G n.646A>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
20 | g.46725496A>T | CA409267048 | SLC2A10 | c.460A>T (p.Asn154Tyr) c.523A>T (p.Asn175Tyr) c.469A>T (p.Asn157Tyr) n.659A>T n.646A>T | |
20 | g.46725497A>C | CA409267050 | SLC2A10 | c.461A>C (p.Asn154Thr) c.524A>C (p.Asn175Thr) c.470A>C (p.Asn157Thr) n.660A>C n.647A>C | |
20 | g.46725497A>G | CA409267051 | SLC2A10 | c.461A>G (p.Asn154Ser) c.524A>G (p.Asn175Ser) c.470A>G (p.Asn157Ser) n.660A>G n.647A>G | |
20 | g.46725497A>T | CA409267052 | SLC2A10 | c.461A>T (p.Asn154Ile) c.524A>T (p.Asn175Ile) c.470A>T (p.Asn157Ile) n.660A>T n.647A>T | |
20 | g.46725498C>A | CA409267053 | SLC2A10 | c.462C>A (p.Asn154Lys) c.525C>A (p.Asn175Lys) c.471C>A (p.Asn157Lys) n.661C>A n.648C>A | gnomAD v4 |
20 | g.46725498C= | CA2366796232 | SLC2A10 | c.462C= (p.Asn154=) c.525C= (p.Asn175=) c.471C= (p.Asn157=) n.661C= n.648C= | |
20 | g.46725498C>G | CA079994 | SLC2A10 | c.462C>G (p.Asn154Lys) c.525C>G (p.Asn175Lys) c.471C>G (p.Asn157Lys) n.661C>G n.648C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725498C>T | CA510847659 | SLC2A10 | c.462C>T (p.Asn154=) c.525C>T (p.Asn175=) c.471C>T (p.Asn157=) n.661C>T n.648C>T | |
20 | g.46725499T>A | CA409267054 | SLC2A10 | c.463T>A (p.Tyr155Asn) c.526T>A (p.Tyr176Asn) c.472T>A (p.Tyr158Asn) n.662T>A n.649T>A | |
20 | g.46725499T>C | CA409267055 | SLC2A10 | c.463T>C (p.Tyr155His) c.526T>C (p.Tyr176His) c.472T>C (p.Tyr158His) n.662T>C n.649T>C | |
20 | g.46725499T>G | CA409267056 | SLC2A10 | c.463T>G (p.Tyr155Asp) c.526T>G (p.Tyr176Asp) c.472T>G (p.Tyr158Asp) n.662T>G n.649T>G | |
20 | g.46725500A= | CA2366796233 | SLC2A10 | c.464A= (p.Tyr155=) c.527A= (p.Tyr176=) c.473A= (p.Tyr158=) n.663A= n.650A= | |
20 | g.46725500A>C | CA409267057 | SLC2A10 | c.464A>C (p.Tyr155Ser) c.527A>C (p.Tyr176Ser) c.473A>C (p.Tyr158Ser) n.663A>C n.650A>C | ClinVar dbSNP gnomAD v4 |
20 | g.46725500A>G | CA315755666 | SLC2A10 | c.464A>G (p.Tyr155Cys) c.527A>G (p.Tyr176Cys) c.473A>G (p.Tyr158Cys) n.663A>G n.650A>G | dbSNP gnomAD v4 |
20 | g.46725500A>T | CA409267058 | SLC2A10 | c.464A>T (p.Tyr155Phe) c.527A>T (p.Tyr176Phe) c.473A>T (p.Tyr158Phe) n.663A>T n.650A>T | |
20 | g.46725500_46725501insCG | CA2560576181 | SLC2A10 | c.464_465insCG (p.Ala156ValfsTer?) c.527_528insCG (p.Ala177ValfsTer?) c.473_474insCG (p.Ala159ValfsTer?) n.663_664insCG n.650_651insCG | |
20 | g.46725501T>A | CA409267059 | SLC2A10 | c.465T>A (p.Tyr155Ter) c.528T>A (p.Tyr176Ter) c.474T>A (p.Tyr158Ter) n.664T>A n.651T>A | |
20 | g.46725501T>C | CA510847660 | SLC2A10 | c.465T>C (p.Tyr155=) c.528T>C (p.Tyr176=) c.474T>C (p.Tyr158=) n.664T>C n.651T>C | |
20 | g.46725501T>G | CA409267060 | SLC2A10 | c.465T>G (p.Tyr155Ter) c.528T>G (p.Tyr176Ter) c.474T>G (p.Tyr158Ter) n.664T>G n.651T>G | |
20 | g.46725502G>A | CA409267063 | SLC2A10 | c.466G>A (p.Ala156Thr) c.529G>A (p.Ala177Thr) c.475G>A (p.Ala159Thr) n.665G>A n.652G>A | |
20 | g.46725502G>C | CA409267061 | SLC2A10 | c.466G>C (p.Ala156Pro) c.529G>C (p.Ala177Pro) c.475G>C (p.Ala159Pro) n.665G>C n.652G>C | |
20 | g.46725502G>T | CA409267062 | SLC2A10 | c.466G>T (p.Ala156Ser) c.529G>T (p.Ala177Ser) c.475G>T (p.Ala159Ser) n.665G>T n.652G>T | |
20 | g.46725503C>A | CA409267064 | SLC2A10 | c.467C>A (p.Ala156Glu) c.530C>A (p.Ala177Glu) c.476C>A (p.Ala159Glu) n.666C>A n.653C>A | |
20 | g.46725503C>G | CA409267065 | SLC2A10 | c.467C>G (p.Ala156Gly) c.530C>G (p.Ala177Gly) c.476C>G (p.Ala159Gly) n.666C>G n.653C>G | |
20 | g.46725503C>T | CA409267066 | SLC2A10 | c.467C>T (p.Ala156Val) c.530C>T (p.Ala177Val) c.476C>T (p.Ala159Val) n.666C>T n.653C>T | gnomAD v4 |
20 | g.46725504_46725505del | CA2527029223 | SLC2A10 | c.468_469del (p.Leu157GlyfsTer?) c.531_532del (p.Leu178GlyfsTer?) c.477_478del (p.Leu160GlyfsTer?) n.667_668del n.654_655del | |
20 | g.46725504A>C | CA510847661 | SLC2A10 | c.468A>C (p.Ala156=) c.531A>C (p.Ala177=) c.477A>C (p.Ala159=) n.667A>C n.654A>C | |
20 | g.46725504A>G | CA510847662 | SLC2A10 | c.468A>G (p.Ala156=) c.531A>G (p.Ala177=) c.477A>G (p.Ala159=) n.667A>G n.654A>G | |
20 | g.46725504A>T | CA510847663 | SLC2A10 | c.468A>T (p.Ala156=) c.531A>T (p.Ala177=) c.477A>T (p.Ala159=) n.667A>T n.654A>T | |
20 | g.46725505C>A | CA409267067 | SLC2A10 | c.469C>A (p.Leu157Met) c.532C>A (p.Leu178Met) c.478C>A (p.Leu160Met) n.668C>A n.655C>A | |
20 | g.46725505C>G | CA409267068 | SLC2A10 | c.469C>G (p.Leu157Val) c.532C>G (p.Leu178Val) c.478C>G (p.Leu160Val) n.668C>G n.655C>G | |
20 | g.46725505C>T | CA510847664 | SLC2A10 | c.469C>T (p.Leu157=) c.532C>T (p.Leu178=) c.478C>T (p.Leu160=) n.668C>T n.655C>T | |
20 | g.46725509_46725512del | CA2580615418 | SLC2A10 | c.473_476del (p.Ala158ValfsTer?) c.536_539del (p.Ala179ValfsTer?) c.482_485del (p.Ala161ValfsTer?) n.672_675del n.659_662del | ClinVar dbSNP |
20 | g.46725506T>A | CA409267069 | SLC2A10 | c.470T>A (p.Leu157Gln) c.533T>A (p.Leu178Gln) c.479T>A (p.Leu160Gln) n.669T>A n.656T>A | |
20 | g.46725506T>C | CA409267070 | SLC2A10 | c.470T>C (p.Leu157Pro) c.533T>C (p.Leu178Pro) c.479T>C (p.Leu160Pro) n.669T>C n.656T>C | |
20 | g.46725506T>G | CA409267071 | SLC2A10 | c.470T>G (p.Leu157Arg) c.533T>G (p.Leu178Arg) c.479T>G (p.Leu160Arg) n.669T>G n.656T>G | |
20 | g.46725507G>A | CA9891979 | SLC2A10 | c.471G>A (p.Leu157=) c.534G>A (p.Leu178=) c.480G>A (p.Leu160=) n.670G>A n.657G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725507G>C | CA510847665 | SLC2A10 | c.471G>C (p.Leu157=) c.534G>C (p.Leu178=) c.480G>C (p.Leu160=) n.670G>C n.657G>C | |
20 | g.46725507G= | CA2366796234 | SLC2A10 | c.471G= (p.Leu157=) c.534G= (p.Leu178=) c.480G= (p.Leu160=) n.670G= n.657G= | |
20 | g.46725507G>T | CA510847666 | SLC2A10 | c.471G>T (p.Leu157=) c.534G>T (p.Leu178=) c.480G>T (p.Leu160=) n.670G>T n.657G>T | |
20 | g.46725508G>A | CA409267072 | SLC2A10 | c.472G>A (p.Ala158Thr) c.535G>A (p.Ala179Thr) c.481G>A (p.Ala161Thr) n.671G>A n.658G>A | |
20 | g.46725508G>C | CA409267073 | SLC2A10 | c.472G>C (p.Ala158Pro) c.535G>C (p.Ala179Pro) c.481G>C (p.Ala161Pro) n.671G>C n.658G>C | dbSNP |
20 | g.46725508G= | CA2366796235 | SLC2A10 | c.472G= (p.Ala158=) c.535G= (p.Ala179=) c.481G= (p.Ala161=) n.671G= n.658G= | |
20 | g.46725508G>T | CA409267074 | SLC2A10 | c.472G>T (p.Ala158Ser) c.535G>T (p.Ala179Ser) c.481G>T (p.Ala161Ser) n.671G>T n.658G>T | |
20 | g.46725509C>A | CA409267076 | SLC2A10 | c.473C>A (p.Ala158Asp) c.536C>A (p.Ala179Asp) c.482C>A (p.Ala161Asp) n.672C>A n.659C>A | |
20 | g.46725509C>G | CA409267077 | SLC2A10 | c.473C>G (p.Ala158Gly) c.536C>G (p.Ala179Gly) c.482C>G (p.Ala161Gly) n.672C>G n.659C>G | |
20 | g.46725509C>T | CA409267075 | SLC2A10 | c.473C>T (p.Ala158Val) c.536C>T (p.Ala179Val) c.482C>T (p.Ala161Val) n.672C>T n.659C>T | gnomAD v4 |
20 | g.46725510T>A | CA510847667 | SLC2A10 | c.474T>A (p.Ala158=) c.537T>A (p.Ala179=) c.483T>A (p.Ala161=) n.673T>A n.660T>A | |
20 | g.46725510T>C | CA510847668 | SLC2A10 | c.474T>C (p.Ala158=) c.537T>C (p.Ala179=) c.483T>C (p.Ala161=) n.673T>C n.660T>C | gnomAD v4 |
20 | g.46725510T>G | CA510847669 | SLC2A10 | c.474T>G (p.Ala158=) c.537T>G (p.Ala179=) c.483T>G (p.Ala161=) n.673T>G n.660T>G | |
20 | g.46725511G>A | CA409267078 | SLC2A10 | c.475G>A (p.Gly159Ser) c.538G>A (p.Gly180Ser) c.484G>A (p.Gly162Ser) n.674G>A n.661G>A | |
20 | g.46725511G>C | CA409267079 | SLC2A10 | c.475G>C (p.Gly159Arg) c.538G>C (p.Gly180Arg) c.484G>C (p.Gly162Arg) n.674G>C n.661G>C | |
20 | g.46725511G= | CA2366796236 | SLC2A10 | c.475G= (p.Gly159=) c.538G= (p.Gly180=) c.484G= (p.Gly162=) n.674G= n.661G= | |
20 | g.46725511G>T | CA9891980 | SLC2A10 | c.475G>T (p.Gly159Cys) c.538G>T (p.Gly180Cys) c.484G>T (p.Gly162Cys) n.674G>T n.661G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725512G>A | CA409267080 | SLC2A10 | c.476G>A (p.Gly159Asp) c.539G>A (p.Gly180Asp) c.485G>A (p.Gly162Asp) n.675G>A n.662G>A | |
20 | g.46725512G>C | CA315755686 | SLC2A10 | c.476G>C (p.Gly159Ala) c.539G>C (p.Gly180Ala) c.485G>C (p.Gly162Ala) n.675G>C n.662G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725512G= | CA2366796237 | SLC2A10 | c.476G= (p.Gly159=) c.539G= (p.Gly180=) c.485G= (p.Gly162=) n.675G= n.662G= | |
20 | g.46725512G>T | CA409267081 | SLC2A10 | c.476G>T (p.Gly159Val) c.539G>T (p.Gly180Val) c.485G>T (p.Gly162Val) n.675G>T n.662G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725513T>A | CA510847670 | SLC2A10 | c.477T>A (p.Gly159=) c.540T>A (p.Gly180=) c.486T>A (p.Gly162=) n.676T>A n.663T>A | |
20 | g.46725513T>C | CA510847671 | SLC2A10 | c.477T>C (p.Gly159=) c.540T>C (p.Gly180=) c.486T>C (p.Gly162=) n.676T>C n.663T>C | gnomAD v4 |
20 | g.46725513T>G | CA9891981 | SLC2A10 | c.477T>G (p.Gly159=) c.540T>G (p.Gly180=) c.486T>G (p.Gly162=) n.676T>G n.663T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725513T= | CA2366796238 | SLC2A10 | c.477T= (p.Gly159=) c.540T= (p.Gly180=) c.486T= (p.Gly162=) n.676T= n.663T= | |
20 | g.46725514A>C | CA409267082 | SLC2A10 | c.478A>C (p.Thr160Pro) c.541A>C (p.Thr181Pro) c.487A>C (p.Thr163Pro) n.677A>C n.664A>C | |
20 | g.46725514A>G | CA409267083 | SLC2A10 | c.478A>G (p.Thr160Ala) c.541A>G (p.Thr181Ala) c.487A>G (p.Thr163Ala) n.677A>G n.664A>G | |
20 | g.46725514A>T | CA409267084 | SLC2A10 | c.478A>T (p.Thr160Ser) c.541A>T (p.Thr181Ser) c.487A>T (p.Thr163Ser) n.677A>T n.664A>T | gnomAD v4 |
20 | g.46725515C>A | CA409267085 | SLC2A10 | c.479C>A (p.Thr160Asn) c.542C>A (p.Thr181Asn) c.488C>A (p.Thr163Asn) n.678C>A n.665C>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.46725515C= | CA2366796239 | SLC2A10 | c.479C= (p.Thr160=) c.542C= (p.Thr181=) c.488C= (p.Thr163=) n.678C= n.665C= | |
20 | g.46725515C>G | CA9891982 | SLC2A10 | c.479C>G (p.Thr160Ser) c.542C>G (p.Thr181Ser) c.488C>G (p.Thr163Ser) n.678C>G n.665C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725515C>T | CA9891983 | SLC2A10 | c.479C>T (p.Thr160Ile) c.542C>T (p.Thr181Ile) c.488C>T (p.Thr163Ile) n.678C>T n.665C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725519dup | CA2653170811 | SLC2A10 | c.483dup (p.Trp162LeufsTer30) c.546dup (p.Trp183LeufsTer30) c.492dup (p.Trp165LeufsTer30) n.682dup n.669dup | gnomAD v4 |
20 | g.46725519del | CA2573157155 | SLC2A10 | c.483del (p.Trp162GlyfsTer?) c.546del (p.Trp183GlyfsTer?) c.492del (p.Trp165GlyfsTer?) n.682del n.669del | ClinVar dbSNP |
20 | g.46725516C>A | CA510847672 | SLC2A10 | c.480C>A (p.Thr160=) c.543C>A (p.Thr181=) c.489C>A (p.Thr163=) n.679C>A n.666C>A | |
20 | g.46725516C>G | CA510847673 | SLC2A10 | c.480C>G (p.Thr160=) c.543C>G (p.Thr181=) c.489C>G (p.Thr163=) n.679C>G n.666C>G | gnomAD v4 |
20 | g.46725516C>T | CA510847674 | SLC2A10 | c.480C>T (p.Thr160=) c.543C>T (p.Thr181=) c.489C>T (p.Thr163=) n.679C>T n.666C>T | |
20 | g.46725517C>A | CA409267086 | SLC2A10 | c.481C>A (p.Pro161Thr) c.544C>A (p.Pro182Thr) c.490C>A (p.Pro164Thr) n.680C>A n.667C>A | |
20 | g.46725517C= | CA2366796240 | SLC2A10 | c.481C= (p.Pro161=) c.544C= (p.Pro182=) c.490C= (p.Pro164=) n.680C= n.667C= | |
20 | g.46725517C>G | CA409267087 | SLC2A10 | c.481C>G (p.Pro161Ala) c.544C>G (p.Pro182Ala) c.490C>G (p.Pro164Ala) n.680C>G n.667C>G | dbSNP gnomAD v2 |
20 | g.46725517C>T | CA409267088 | SLC2A10 | c.481C>T (p.Pro161Ser) c.544C>T (p.Pro182Ser) c.490C>T (p.Pro164Ser) n.680C>T n.667C>T | gnomAD v4 |
20 | g.46725518C>A | CA9891984 | SLC2A10 | c.482C>A (p.Pro161His) c.545C>A (p.Pro182His) c.491C>A (p.Pro164His) n.681C>A n.668C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725518C= | CA2366796241 | SLC2A10 | c.482C= (p.Pro161=) c.545C= (p.Pro182=) c.491C= (p.Pro164=) n.681C= n.668C= | |
20 | g.46725518C>G | CA409267089 | SLC2A10 | c.482C>G (p.Pro161Arg) c.545C>G (p.Pro182Arg) c.491C>G (p.Pro164Arg) n.681C>G n.668C>G | |
20 | g.46725518C>T | CA9891985 | SLC2A10 | c.482C>T (p.Pro161Leu) c.545C>T (p.Pro182Leu) c.491C>T (p.Pro164Leu) n.681C>T n.668C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725519C>A | CA510847677 | SLC2A10 | c.483C>A (p.Pro161=) c.546C>A (p.Pro182=) c.492C>A (p.Pro164=) n.682C>A n.669C>A | gnomAD v4 |
20 | g.46725519C>G | CA510847676 | SLC2A10 | c.483C>G (p.Pro161=) c.546C>G (p.Pro182=) c.492C>G (p.Pro164=) n.682C>G n.669C>G | |
20 | g.46725519C>T | CA510847675 | SLC2A10 | c.483C>T (p.Pro161=) c.546C>T (p.Pro182=) c.492C>T (p.Pro164=) n.682C>T n.669C>T | |
20 | g.46725519_46725520delinsCT | CA2366796242 | SLC2A10 | c.483_484delinsCT (p.Pro161=) c.546_547delinsCT (p.Pro182=) c.492_493delinsCT (p.Pro164=) n.682_683delinsCT n.669_670delinsCT | |
20 | g.46725520del | CA1017976908 | SLC2A10 | c.484del (p.Trp162GlyfsTer?) c.547del (p.Trp183GlyfsTer?) c.493del (p.Trp165GlyfsTer?) n.683del n.670del | dbSNP gnomAD v3 gnomAD v4 |
20 | g.46725520T>A | CA409267090 | SLC2A10 | c.484T>A (p.Trp162Arg) c.547T>A (p.Trp183Arg) c.493T>A (p.Trp165Arg) n.683T>A n.670T>A | |
20 | g.46725520T>C | CA9891986 | SLC2A10 | c.484T>C (p.Trp162Arg) c.547T>C (p.Trp183Arg) c.493T>C (p.Trp165Arg) n.683T>C n.670T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725520T>G | CA409267091 | SLC2A10 | c.484T>G (p.Trp162Gly) c.547T>G (p.Trp183Gly) c.493T>G (p.Trp165Gly) n.683T>G n.670T>G | |
20 | g.46725520T= | CA2366796243 | SLC2A10 | c.484T= (p.Trp162=) c.547T= (p.Trp183=) c.493T= (p.Trp165=) n.683T= n.670T= | |
20 | g.46725521G>A | CA409267092 | SLC2A10 | c.485G>A (p.Trp162Ter) c.548G>A (p.Trp183Ter) c.494G>A (p.Trp165Ter) n.684G>A n.671G>A | ClinVar dbSNP |
20 | g.46725521G>C | CA409267093 | SLC2A10 | c.485G>C (p.Trp162Ser) c.548G>C (p.Trp183Ser) c.494G>C (p.Trp165Ser) n.684G>C n.671G>C | |
20 | g.46725521G>T | CA409267094 | SLC2A10 | c.485G>T (p.Trp162Leu) c.548G>T (p.Trp183Leu) c.494G>T (p.Trp165Leu) n.684G>T n.671G>T | |
20 | g.46725522G>A | CA409267095 | SLC2A10 | c.486G>A (p.Trp162Ter) c.549G>A (p.Trp183Ter) c.495G>A (p.Trp165Ter) n.685G>A n.672G>A | |
20 | g.46725522G>C | CA409267096 | SLC2A10 | c.486G>C (p.Trp162Cys) c.549G>C (p.Trp183Cys) c.495G>C (p.Trp165Cys) n.685G>C n.672G>C | |
20 | g.46725522G>T | CA409267097 | SLC2A10 | c.486G>T (p.Trp162Cys) c.549G>T (p.Trp183Cys) c.495G>T (p.Trp165Cys) n.685G>T n.672G>T | |
20 | g.46725523G>A | CA409267098 | SLC2A10 | c.487G>A (p.Gly163Arg) c.550G>A (p.Gly184Arg) c.496G>A (p.Gly166Arg) n.686G>A n.673G>A | |
20 | g.46725523G>C | CA409267099 | SLC2A10 | c.487G>C (p.Gly163Arg) c.550G>C (p.Gly184Arg) c.496G>C (p.Gly166Arg) n.686G>C n.673G>C | |
20 | g.46725523G>T | CA409267100 | SLC2A10 | c.487G>T (p.Gly163Ter) c.550G>T (p.Gly184Ter) c.496G>T (p.Gly166Ter) n.686G>T n.673G>T | |
20 | g.46725524G>A | CA409267103 | SLC2A10 | c.488G>A (p.Gly163Glu) c.551G>A (p.Gly184Glu) c.497G>A (p.Gly166Glu) n.687G>A n.674G>A | gnomAD v4 COSMIC |
20 | g.46725524G>C | CA409267102 | SLC2A10 | c.488G>C (p.Gly163Ala) c.551G>C (p.Gly184Ala) c.497G>C (p.Gly166Ala) n.687G>C n.674G>C | |
20 | g.46725524G>T | CA409267101 | SLC2A10 | c.488G>T (p.Gly163Val) c.551G>T (p.Gly184Val) c.497G>T (p.Gly166Val) n.687G>T n.674G>T | |
20 | g.46725525A= | CA2366796244 | SLC2A10 | c.489A= (p.Gly163=) c.552A= (p.Gly184=) c.498A= (p.Gly166=) n.688A= n.675A= | |
20 | g.46725525A>C | CA510847678 | SLC2A10 | c.489A>C (p.Gly163=) c.552A>C (p.Gly184=) c.498A>C (p.Gly166=) n.688A>C n.675A>C | |
20 | g.46725525A>G | CA510847680 | SLC2A10 | c.489A>G (p.Gly163=) c.552A>G (p.Gly184=) c.498A>G (p.Gly166=) n.688A>G n.675A>G | dbSNP |
20 | g.46725525A>T | CA510847679 | SLC2A10 | c.489A>T (p.Gly163=) c.552A>T (p.Gly184=) c.498A>T (p.Gly166=) n.688A>T n.675A>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725526T>A | CA409267104 | SLC2A10 | c.490T>A (p.Trp164Arg) c.553T>A (p.Trp185Arg) c.499T>A (p.Trp167Arg) n.689T>A n.676T>A | |
20 | g.46725526T>C | CA409267105 | SLC2A10 | c.490T>C (p.Trp164Arg) c.553T>C (p.Trp185Arg) c.499T>C (p.Trp167Arg) n.689T>C n.676T>C | gnomAD v4 |
20 | g.46725526T>G | CA409267106 | SLC2A10 | c.490T>G (p.Trp164Gly) c.553T>G (p.Trp185Gly) c.499T>G (p.Trp167Gly) n.689T>G n.676T>G | |
20 | g.46725527G>A | CA409267107 | SLC2A10 | c.491G>A (p.Trp164Ter) c.554G>A (p.Trp185Ter) c.500G>A (p.Trp167Ter) n.690G>A n.677G>A | |
20 | g.46725527G>C | CA409267108 | SLC2A10 | c.491G>C (p.Trp164Ser) c.554G>C (p.Trp185Ser) c.500G>C (p.Trp167Ser) n.690G>C n.677G>C | |
20 | g.46725527G>T | CA409267109 | SLC2A10 | c.491G>T (p.Trp164Leu) c.554G>T (p.Trp185Leu) c.500G>T (p.Trp167Leu) n.690G>T n.677G>T | |
20 | g.46725528G>A | CA409267110 | SLC2A10 | c.492G>A (p.Trp164Ter) c.555G>A (p.Trp185Ter) c.501G>A (p.Trp167Ter) n.691G>A n.678G>A | |
20 | g.46725528G>C | CA409267111 | SLC2A10 | c.492G>C (p.Trp164Cys) c.555G>C (p.Trp185Cys) c.501G>C (p.Trp167Cys) n.691G>C n.678G>C | gnomAD v4 |
20 | g.46725528G>T | CA409267112 | SLC2A10 | c.492G>T (p.Trp164Cys) c.555G>T (p.Trp185Cys) c.501G>T (p.Trp167Cys) n.691G>T n.678G>T | |
20 | g.46725529A>C | CA510847681 | SLC2A10 | c.493A>C (p.Arg165=) c.556A>C (p.Arg186=) c.502A>C (p.Arg168=) n.692A>C n.679A>C | |
20 | g.46725529A>G | CA409267113 | SLC2A10 | c.493A>G (p.Arg165Gly) c.556A>G (p.Arg186Gly) c.502A>G (p.Arg168Gly) n.692A>G n.679A>G | |
20 | g.46725529A>T | CA409267114 | SLC2A10 | c.493A>T (p.Arg165Trp) c.556A>T (p.Arg186Trp) c.502A>T (p.Arg168Trp) n.692A>T n.679A>T | |
20 | g.46725530G>A | CA409267117 | SLC2A10 | c.494G>A (p.Arg165Lys) c.557G>A (p.Arg186Lys) c.503G>A (p.Arg168Lys) n.693G>A n.680G>A | |
20 | g.46725530G>C | CA409267116 | SLC2A10 | c.494G>C (p.Arg165Thr) c.557G>C (p.Arg186Thr) c.503G>C (p.Arg168Thr) n.693G>C n.680G>C | |
20 | g.46725530G>T | CA409267115 | SLC2A10 | c.494G>T (p.Arg165Met) c.557G>T (p.Arg186Met) c.503G>T (p.Arg168Met) n.693G>T n.680G>T | |
20 | g.46725531G>A | CA510847682 | SLC2A10 | c.495G>A (p.Arg165=) c.558G>A (p.Arg186=) c.504G>A (p.Arg168=) n.694G>A n.681G>A | |
20 | g.46725531G>C | CA409267118 | SLC2A10 | c.495G>C (p.Arg165Ser) c.558G>C (p.Arg186Ser) c.504G>C (p.Arg168Ser) n.694G>C n.681G>C | |
20 | g.46725531G>T | CA409267119 | SLC2A10 | c.495G>T (p.Arg165Ser) c.558G>T (p.Arg186Ser) c.504G>T (p.Arg168Ser) n.694G>T n.681G>T | |
20 | g.46725532C>A | CA409267120 | SLC2A10 | c.496C>A (p.His166Asn) c.559C>A (p.His187Asn) c.505C>A (p.His169Asn) n.695C>A n.682C>A | |
20 | g.46725532C>G | CA409267121 | SLC2A10 | c.496C>G (p.His166Asp) c.559C>G (p.His187Asp) c.505C>G (p.His169Asp) n.695C>G n.682C>G | |
20 | g.46725532C>T | CA409267122 | SLC2A10 | c.496C>T (p.His166Tyr) c.559C>T (p.His187Tyr) c.505C>T (p.His169Tyr) n.695C>T n.682C>T | gnomAD v4 |
20 | g.46725533A>C | CA409267123 | SLC2A10 | c.497A>C (p.His166Pro) c.560A>C (p.His187Pro) c.506A>C (p.His169Pro) n.696A>C n.683A>C | |
20 | g.46725533A>G | CA409267124 | SLC2A10 | c.497A>G (p.His166Arg) c.560A>G (p.His187Arg) c.506A>G (p.His169Arg) n.696A>G n.683A>G | gnomAD v4 |
20 | g.46725533A>T | CA409267125 | SLC2A10 | c.497A>T (p.His166Leu) c.560A>T (p.His187Leu) c.506A>T (p.His169Leu) n.696A>T n.683A>T | |
20 | g.46725534C>A | CA409267126 | SLC2A10 | c.498C>A (p.His166Gln) c.561C>A (p.His187Gln) c.507C>A (p.His169Gln) n.697C>A n.684C>A | |
20 | g.46725534C>G | CA409267127 | SLC2A10 | c.498C>G (p.His166Gln) c.561C>G (p.His187Gln) c.507C>G (p.His169Gln) n.697C>G n.684C>G | |
20 | g.46725534C>T | CA510847683 | SLC2A10 | c.498C>T (p.His166=) c.561C>T (p.His187=) c.507C>T (p.His169=) n.697C>T n.684C>T | |
20 | g.46725535A>C | CA409267128 | SLC2A10 | c.499A>C (p.Met167Leu) c.562A>C (p.Met188Leu) c.508A>C (p.Met170Leu) n.698A>C n.685A>C | |
20 | g.46725535A>G | CA409267129 | SLC2A10 | c.499A>G (p.Met167Val) c.562A>G (p.Met188Val) c.508A>G (p.Met170Val) n.698A>G n.685A>G | ClinVar |
20 | g.46725535A>T | CA409267130 | SLC2A10 | c.499A>T (p.Met167Leu) c.562A>T (p.Met188Leu) c.508A>T (p.Met170Leu) n.698A>T n.685A>T | gnomAD v4 |
20 | g.46725535_46725536delinsAT | CA2366796245 | SLC2A10 | c.499_500delinsAT (p.Met167=) c.562_563delinsAT (p.Met188=) c.508_509delinsAT (p.Met170=) n.698_699delinsAT n.685_686delinsAT | |
20 | g.46725536del | CA636177762 | SLC2A10 | c.500del (p.Met167SerfsTer?) c.563del (p.Met188SerfsTer?) c.509del (p.Met170SerfsTer?) n.699del n.686del | dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725536T>A | CA409267133 | SLC2A10 | c.500T>A (p.Met167Lys) c.563T>A (p.Met188Lys) c.509T>A (p.Met170Lys) n.699T>A n.686T>A | |
20 | g.46725536T>C | CA409267132 | SLC2A10 | c.500T>C (p.Met167Thr) c.563T>C (p.Met188Thr) c.509T>C (p.Met170Thr) n.699T>C n.686T>C | gnomAD v4 |
20 | g.46725536T>G | CA409267131 | SLC2A10 | c.500T>G (p.Met167Arg) c.563T>G (p.Met188Arg) c.509T>G (p.Met170Arg) n.699T>G n.686T>G | gnomAD v4 |
20 | g.46725537G>A | CA9891987 | SLC2A10 | c.501G>A (p.Met167Ile) c.564G>A (p.Met188Ile) c.510G>A (p.Met170Ile) n.700G>A n.687G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725537G>C | CA409267134 | SLC2A10 | c.501G>C (p.Met167Ile) c.564G>C (p.Met188Ile) c.510G>C (p.Met170Ile) n.700G>C n.687G>C | |
20 | g.46725537G= | CA2366796246 | SLC2A10 | c.501G= (p.Met167=) c.564G= (p.Met188=) c.510G= (p.Met170=) n.700G= n.687G= | |
20 | g.46725537G>T | CA409267135 | SLC2A10 | c.501G>T (p.Met167Ile) c.564G>T (p.Met188Ile) c.510G>T (p.Met170Ile) n.700G>T n.687G>T | |
20 | g.46725538T>A | CA409267136 | SLC2A10 | c.502T>A (p.Phe168Ile) c.565T>A (p.Phe189Ile) c.511T>A (p.Phe171Ile) n.701T>A n.688T>A | |
20 | g.46725538T>C | CA409267137 | SLC2A10 | c.502T>C (p.Phe168Leu) c.565T>C (p.Phe189Leu) c.511T>C (p.Phe171Leu) n.701T>C n.688T>C | |
20 | g.46725538T>G | CA409267138 | SLC2A10 | c.502T>G (p.Phe168Val) c.565T>G (p.Phe189Val) c.511T>G (p.Phe171Val) n.701T>G n.688T>G | |
20 | g.46725539T>A | CA409267141 | SLC2A10 | c.503T>A (p.Phe168Tyr) c.566T>A (p.Phe189Tyr) c.512T>A (p.Phe171Tyr) n.702T>A n.689T>A | gnomAD v4 |
20 | g.46725539T>C | CA409267140 | SLC2A10 | c.503T>C (p.Phe168Ser) c.566T>C (p.Phe189Ser) c.512T>C (p.Phe171Ser) n.702T>C n.689T>C | |
20 | g.46725539T>G | CA409267139 | SLC2A10 | c.503T>G (p.Phe168Cys) c.566T>G (p.Phe189Cys) c.512T>G (p.Phe171Cys) n.702T>G n.689T>G | |
20 | g.46725540C>A | CA324019 | SLC2A10 | c.504C>A (p.Phe168Leu) c.567C>A (p.Phe189Leu) c.513C>A (p.Phe171Leu) n.703C>A n.690C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725540C= | CA2366796247 | SLC2A10 | c.504C= (p.Phe168=) c.567C= (p.Phe189=) c.513C= (p.Phe171=) n.703C= n.690C= | |
20 | g.46725540C>G | CA409267142 | SLC2A10 | c.504C>G (p.Phe168Leu) c.567C>G (p.Phe189Leu) c.513C>G (p.Phe171Leu) n.703C>G n.690C>G | |
20 | g.46725540C>T | CA9891988 | SLC2A10 | c.504C>T (p.Phe168=) c.567C>T (p.Phe189=) c.513C>T (p.Phe171=) n.703C>T n.690C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725541G>A | CA9891989 | SLC2A10 | c.505G>A (p.Gly169Ser) c.568G>A (p.Gly190Ser) c.514G>A (p.Gly172Ser) n.704G>A n.691G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.46725541G>C | CA409267143 | SLC2A10 | c.505G>C (p.Gly169Arg) c.568G>C (p.Gly190Arg) c.514G>C (p.Gly172Arg) n.704G>C n.691G>C | |
20 | g.46725541G= | CA2366796248 | SLC2A10 | c.505G= (p.Gly169=) c.568G= (p.Gly190=) c.514G= (p.Gly172=) n.704G= n.691G= | |
20 | g.46725541G>T | CA409267144 | SLC2A10 | c.505G>T (p.Gly169Cys) c.568G>T (p.Gly190Cys) c.514G>T (p.Gly172Cys) n.704G>T n.691G>T | gnomAD v4 |
20 | g.46725542G>A | CA9891990 | SLC2A10 | c.506G>A (p.Gly169Asp) c.569G>A (p.Gly190Asp) c.515G>A (p.Gly172Asp) n.705G>A n.692G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725542G>C | CA409267145 | SLC2A10 | c.506G>C (p.Gly169Ala) c.569G>C (p.Gly190Ala) c.515G>C (p.Gly172Ala) n.705G>C n.692G>C | ClinVar |
20 | g.46725542G= | CA2366796249 | SLC2A10 | c.506G= (p.Gly169=) c.569G= (p.Gly190=) c.515G= (p.Gly172=) n.705G= n.692G= | |
20 | g.46725542G>T | CA409267146 | SLC2A10 | c.506G>T (p.Gly169Val) c.569G>T (p.Gly190Val) c.515G>T (p.Gly172Val) n.705G>T n.692G>T | gnomAD v4 |
20 | g.46725543C>A | CA510847684 | SLC2A10 | c.507C>A (p.Gly169=) c.570C>A (p.Gly190=) c.516C>A (p.Gly172=) n.706C>A n.693C>A | |
20 | g.46725543C= | CA2366796250 | SLC2A10 | c.507C= (p.Gly169=) c.570C= (p.Gly190=) c.516C= (p.Gly172=) n.706C= n.693C= | |
20 | g.46725543C>G | CA510847685 | SLC2A10 | c.507C>G (p.Gly169=) c.570C>G (p.Gly190=) c.516C>G (p.Gly172=) n.706C>G n.693C>G | |
20 | g.46725543C>T | CA9891991 | SLC2A10 | c.507C>T (p.Gly169=) c.570C>T (p.Gly190=) c.516C>T (p.Gly172=) n.706C>T n.693C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725544T>A | CA409267147 | SLC2A10 | c.508T>A (p.Trp170Arg) c.571T>A (p.Trp191Arg) c.517T>A (p.Trp173Arg) n.707T>A n.694T>A | |
20 | g.46725544T>C | CA409267148 | SLC2A10 | c.508T>C (p.Trp170Arg) c.571T>C (p.Trp191Arg) c.517T>C (p.Trp173Arg) n.707T>C n.694T>C | |
20 | g.46725544T>G | CA409267149 | SLC2A10 | c.508T>G (p.Trp170Gly) c.571T>G (p.Trp191Gly) c.517T>G (p.Trp173Gly) n.707T>G n.694T>G | |
20 | g.46725545G>A | CA409267150 | SLC2A10 | c.509G>A (p.Trp170Ter) c.572G>A (p.Trp191Ter) c.518G>A (p.Trp173Ter) n.708G>A n.695G>A | dbSNP gnomAD v2 |
20 | g.46725545G>C | CA409267151 | SLC2A10 | c.509G>C (p.Trp170Ser) c.572G>C (p.Trp191Ser) c.518G>C (p.Trp173Ser) n.708G>C n.695G>C | |
20 | g.46725545G= | CA2366796251 | SLC2A10 | c.509G= (p.Trp170=) c.572G= (p.Trp191=) c.518G= (p.Trp173=) n.708G= n.695G= | |
20 | g.46725545G>T | CA409267152 | SLC2A10 | c.509G>T (p.Trp170Leu) c.572G>T (p.Trp191Leu) c.518G>T (p.Trp173Leu) n.708G>T n.695G>T | |
20 | g.46725546G>A | CA340263 | SLC2A10 | c.510G>A (p.Trp170Ter) c.573G>A (p.Trp191Ter) c.519G>A (p.Trp173Ter) n.709G>A n.696G>A | ClinVar dbSNP |
20 | g.46725546G>C | CA409267153 | SLC2A10 | c.510G>C (p.Trp170Cys) c.573G>C (p.Trp191Cys) c.519G>C (p.Trp173Cys) n.709G>C n.696G>C | |
20 | g.46725546G= | CA2366796252 | SLC2A10 | c.510G= (p.Trp170=) c.573G= (p.Trp191=) c.519G= (p.Trp173=) n.709G= n.696G= | |
20 | g.46725546G>T | CA409267154 | SLC2A10 | c.510G>T (p.Trp170Cys) c.573G>T (p.Trp191Cys) c.519G>T (p.Trp173Cys) n.709G>T n.696G>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725547G>A | CA409267155 | SLC2A10 | c.511G>A (p.Ala171Thr) c.574G>A (p.Ala192Thr) c.520G>A (p.Ala174Thr) n.710G>A n.697G>A | |
20 | g.46725547G>C | CA409267156 | SLC2A10 | c.511G>C (p.Ala171Pro) c.574G>C (p.Ala192Pro) c.520G>C (p.Ala174Pro) n.710G>C n.697G>C | |
20 | g.46725547G>T | CA409267157 | SLC2A10 | c.511G>T (p.Ala171Ser) c.574G>T (p.Ala192Ser) c.520G>T (p.Ala174Ser) n.710G>T n.697G>T | |
20 | g.46725548C>A | CA409267158 | SLC2A10 | c.512C>A (p.Ala171Asp) c.575C>A (p.Ala192Asp) c.521C>A (p.Ala174Asp) n.711C>A n.698C>A | |
20 | g.46725548C>G | CA409267160 | SLC2A10 | c.512C>G (p.Ala171Gly) c.575C>G (p.Ala192Gly) c.521C>G (p.Ala174Gly) n.711C>G n.698C>G | |
20 | g.46725548C>T | CA409267159 | SLC2A10 | c.512C>T (p.Ala171Val) c.575C>T (p.Ala192Val) c.521C>T (p.Ala174Val) n.711C>T n.698C>T | COSMIC |
20 | g.46725549C>A | CA510847686 | SLC2A10 | c.513C>A (p.Ala171=) c.576C>A (p.Ala192=) c.522C>A (p.Ala174=) n.712C>A n.699C>A | |
20 | g.46725549C>G | CA510847687 | SLC2A10 | c.513C>G (p.Ala171=) c.576C>G (p.Ala192=) c.522C>G (p.Ala174=) n.712C>G n.699C>G | |
20 | g.46725549C>T | CA510847688 | SLC2A10 | c.513C>T (p.Ala171=) c.576C>T (p.Ala192=) c.522C>T (p.Ala174=) n.712C>T n.699C>T | |
20 | g.46725550A>C | CA409267161 | SLC2A10 | c.514A>C (p.Thr172Pro) c.577A>C (p.Thr193Pro) c.523A>C (p.Thr175Pro) n.713A>C n.700A>C | |
20 | g.46725550A>G | CA409267162 | SLC2A10 | c.514A>G (p.Thr172Ala) c.577A>G (p.Thr193Ala) c.523A>G (p.Thr175Ala) n.713A>G n.700A>G | |
20 | g.46725550A>T | CA409267163 | SLC2A10 | c.514A>T (p.Thr172Ser) c.577A>T (p.Thr193Ser) c.523A>T (p.Thr175Ser) n.713A>T n.700A>T | |
20 | g.46725551C>A | CA409267164 | SLC2A10 | c.515C>A (p.Thr172Asn) c.578C>A (p.Thr193Asn) c.524C>A (p.Thr175Asn) n.714C>A n.701C>A | |
20 | g.46725551C= | CA2366796253 | SLC2A10 | c.515C= (p.Thr172=) c.578C= (p.Thr193=) c.524C= (p.Thr175=) n.714C= n.701C= | |
20 | g.46725551C>G | CA409267165 | SLC2A10 | c.515C>G (p.Thr172Ser) c.578C>G (p.Thr193Ser) c.524C>G (p.Thr175Ser) n.714C>G n.701C>G | |
20 | g.46725551C>T | CA241805 | SLC2A10 | c.515C>T (p.Thr172Ile) c.578C>T (p.Thr193Ile) c.524C>T (p.Thr175Ile) n.714C>T n.701C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725552T>A | CA510847689 | SLC2A10 | c.516T>A (p.Thr172=) c.579T>A (p.Thr193=) c.525T>A (p.Thr175=) n.715T>A n.702T>A | ClinVar |
20 | g.46725552T>C | CA510847690 | SLC2A10 | c.516T>C (p.Thr172=) c.579T>C (p.Thr193=) c.525T>C (p.Thr175=) n.715T>C n.702T>C | |
20 | g.46725552T>G | CA510847691 | SLC2A10 | c.516T>G (p.Thr172=) c.579T>G (p.Thr193=) c.525T>G (p.Thr175=) n.715T>G n.702T>G | |
20 | g.46725553G>A | CA16616241 | SLC2A10 | c.517G>A (p.Ala173Thr) c.580G>A (p.Ala194Thr) c.526G>A (p.Ala176Thr) n.716G>A n.703G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.46725553G>C | CA409267166 | SLC2A10 | c.517G>C (p.Ala173Pro) c.580G>C (p.Ala194Pro) c.526G>C (p.Ala176Pro) n.716G>C n.703G>C | |
20 | g.46725553G= | CA2366796254 | SLC2A10 | c.517G= (p.Ala173=) c.580G= (p.Ala194=) c.526G= (p.Ala176=) n.716G= n.703G= | |
20 | g.46725553G>T | CA409267167 | SLC2A10 | c.517G>T (p.Ala173Ser) c.580G>T (p.Ala194Ser) c.526G>T (p.Ala176Ser) n.716G>T n.703G>T | |
20 | g.46725554C>A | CA409267168 | SLC2A10 | c.518C>A (p.Ala173Glu) c.581C>A (p.Ala194Glu) c.527C>A (p.Ala176Glu) n.717C>A n.704C>A | |
20 | g.46725554C>G | CA409267169 | SLC2A10 | c.518C>G (p.Ala173Gly) c.581C>G (p.Ala194Gly) c.527C>G (p.Ala176Gly) n.717C>G n.704C>G | |
20 | g.46725554C>T | CA409267170 | SLC2A10 | c.518C>T (p.Ala173Val) c.581C>T (p.Ala194Val) c.527C>T (p.Ala176Val) n.717C>T n.704C>T | |
20 | g.46725555A= | CA2366796255 | SLC2A10 | c.519A= (p.Ala173=) c.582A= (p.Ala194=) c.528A= (p.Ala176=) n.718A= n.705A= | |
20 | g.46725555A>C | CA510847692 | SLC2A10 | c.519A>C (p.Ala173=) c.582A>C (p.Ala194=) c.528A>C (p.Ala176=) n.718A>C n.705A>C | |
20 | g.46725555A>G | CA9891992 | SLC2A10 | c.519A>G (p.Ala173=) c.582A>G (p.Ala194=) c.528A>G (p.Ala176=) n.718A>G n.705A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725555A>T | CA510847693 | SLC2A10 | c.519A>T (p.Ala173=) c.582A>T (p.Ala194=) c.528A>T (p.Ala176=) n.718A>T n.705A>T | |
20 | g.46725556C>A | CA409267173 | SLC2A10 | c.520C>A (p.Pro174Thr) c.583C>A (p.Pro195Thr) c.529C>A (p.Pro177Thr) n.719C>A n.706C>A | |
20 | g.46725556C= | CA2366796256 | SLC2A10 | c.520C= (p.Pro174=) c.583C= (p.Pro195=) c.529C= (p.Pro177=) n.719C= n.706C= | |
20 | g.46725556C>G | CA409267171 | SLC2A10 | c.520C>G (p.Pro174Ala) c.583C>G (p.Pro195Ala) c.529C>G (p.Pro177Ala) n.719C>G n.706C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725556C>T | CA409267172 | SLC2A10 | c.520C>T (p.Pro174Ser) c.583C>T (p.Pro195Ser) c.529C>T (p.Pro177Ser) n.719C>T n.706C>T | |
20 | g.46725557C>A | CA409267174 | SLC2A10 | c.521C>A (p.Pro174His) c.584C>A (p.Pro195His) c.530C>A (p.Pro177His) n.720C>A n.707C>A | |
20 | g.46725557C>G | CA409267175 | SLC2A10 | c.521C>G (p.Pro174Arg) c.584C>G (p.Pro195Arg) c.530C>G (p.Pro177Arg) n.720C>G n.707C>G | |
20 | g.46725557C>T | CA409267176 | SLC2A10 | c.521C>T (p.Pro174Leu) c.584C>T (p.Pro195Leu) c.530C>T (p.Pro177Leu) n.720C>T n.707C>T | |
20 | g.46725558T>A | CA510847694 | SLC2A10 | c.522T>A (p.Pro174=) c.585T>A (p.Pro195=) c.531T>A (p.Pro177=) n.721T>A n.708T>A | |
20 | g.46725558T>C | CA510847695 | SLC2A10 | c.522T>C (p.Pro174=) c.585T>C (p.Pro195=) c.531T>C (p.Pro177=) n.721T>C n.708T>C | gnomAD v3 gnomAD v4 |
20 | g.46725558T>G | CA510847696 | SLC2A10 | c.522T>G (p.Pro174=) c.585T>G (p.Pro195=) c.531T>G (p.Pro177=) n.721T>G n.708T>G | |
20 | g.46725559G>A | CA409267177 | SLC2A10 | c.523G>A (p.Ala175Thr) c.586G>A (p.Ala196Thr) c.532G>A (p.Ala178Thr) n.722G>A n.709G>A | gnomAD v4 |
20 | g.46725559G>C | CA409267178 | SLC2A10 | c.523G>C (p.Ala175Pro) c.586G>C (p.Ala196Pro) c.532G>C (p.Ala178Pro) n.722G>C n.709G>C | |
20 | g.46725559G>T | CA409267179 | SLC2A10 | c.523G>T (p.Ala175Ser) c.586G>T (p.Ala196Ser) c.532G>T (p.Ala178Ser) n.722G>T n.709G>T | |
20 | g.46725560C>A | CA409267180 | SLC2A10 | c.524C>A (p.Ala175Asp) c.587C>A (p.Ala196Asp) c.533C>A (p.Ala178Asp) n.723C>A n.710C>A | |
20 | g.46725560C>G | CA409267181 | SLC2A10 | c.524C>G (p.Ala175Gly) c.587C>G (p.Ala196Gly) c.533C>G (p.Ala178Gly) n.723C>G n.710C>G | |
20 | g.46725560C>T | CA409267182 | SLC2A10 | c.524C>T (p.Ala175Val) c.587C>T (p.Ala196Val) c.533C>T (p.Ala178Val) n.723C>T n.710C>T | |
20 | g.46725561T>A | CA510847699 | SLC2A10 | c.525T>A (p.Ala175=) c.588T>A (p.Ala196=) c.534T>A (p.Ala178=) n.724T>A n.711T>A | gnomAD v4 |
20 | g.46725561T>C | CA510847698 | SLC2A10 | c.525T>C (p.Ala175=) c.588T>C (p.Ala196=) c.534T>C (p.Ala178=) n.724T>C n.711T>C | |
20 | g.46725561T>G | CA510847697 | SLC2A10 | c.525T>G (p.Ala175=) c.588T>G (p.Ala196=) c.534T>G (p.Ala178=) n.724T>G n.711T>G | |
20 | g.46725562del | CA2653170833 | SLC2A10 | c.526del (p.Val176SerfsTer?) c.589del (p.Val197SerfsTer?) c.535del (p.Val179SerfsTer?) n.725del n.712del | gnomAD v4 |
20 | g.46725562G>A | CA9891993 | SLC2A10 | c.526G>A (p.Val176Ile) c.589G>A (p.Val197Ile) c.535G>A (p.Val179Ile) n.725G>A n.712G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725562G>C | CA409267183 | SLC2A10 | c.526G>C (p.Val176Leu) c.589G>C (p.Val197Leu) c.535G>C (p.Val179Leu) n.725G>C n.712G>C | ClinVar |
20 | g.46725562G= | CA2366796257 | SLC2A10 | c.526G= (p.Val176=) c.589G= (p.Val197=) c.535G= (p.Val179=) n.725G= n.712G= | |
20 | g.46725562G>T | CA409267184 | SLC2A10 | c.526G>T (p.Val176Phe) c.589G>T (p.Val197Phe) c.535G>T (p.Val179Phe) n.725G>T n.712G>T | |
20 | g.46725563T>A | CA409267186 | SLC2A10 | c.527T>A (p.Val176Asp) c.590T>A (p.Val197Asp) c.536T>A (p.Val179Asp) n.726T>A n.713T>A | |
20 | g.46725563T>C | CA409267187 | SLC2A10 | c.527T>C (p.Val176Ala) c.590T>C (p.Val197Ala) c.536T>C (p.Val179Ala) n.726T>C n.713T>C | |
20 | g.46725563T>G | CA409267185 | SLC2A10 | c.527T>G (p.Val176Gly) c.590T>G (p.Val197Gly) c.536T>G (p.Val179Gly) n.726T>G n.713T>G | |
20 | g.46725564C>A | CA510847700 | SLC2A10 | c.528C>A (p.Val176=) c.591C>A (p.Val197=) c.537C>A (p.Val179=) n.727C>A n.714C>A | |
20 | g.46725564C>G | CA510847701 | SLC2A10 | c.528C>G (p.Val176=) c.591C>G (p.Val197=) c.537C>G (p.Val179=) n.727C>G n.714C>G | |
20 | g.46725564C>T | CA510847702 | SLC2A10 | c.528C>T (p.Val176=) c.591C>T (p.Val197=) c.537C>T (p.Val179=) n.727C>T n.714C>T | |
20 | g.46725565C>A | CA409267188 | SLC2A10 | c.529C>A (p.Leu177Met) c.592C>A (p.Leu198Met) c.538C>A (p.Leu180Met) n.728C>A n.715C>A | |
20 | g.46725565C>G | CA409267189 | SLC2A10 | c.529C>G (p.Leu177Val) c.592C>G (p.Leu198Val) c.538C>G (p.Leu180Val) n.728C>G n.715C>G | gnomAD v4 |
20 | g.46725565C>T | CA510847703 | SLC2A10 | c.529C>T (p.Leu177=) c.592C>T (p.Leu198=) c.538C>T (p.Leu180=) n.728C>T n.715C>T | gnomAD v4 |
20 | g.46725566T>A | CA409267190 | SLC2A10 | c.530T>A (p.Leu177Gln) c.593T>A (p.Leu198Gln) c.539T>A (p.Leu180Gln) n.729T>A n.716T>A | |
20 | g.46725566T>C | CA9891994 | SLC2A10 | c.530T>C (p.Leu177Pro) c.593T>C (p.Leu198Pro) c.539T>C (p.Leu180Pro) n.729T>C n.716T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725566T>G | CA409267191 | SLC2A10 | c.530T>G (p.Leu177Arg) c.593T>G (p.Leu198Arg) c.539T>G (p.Leu180Arg) n.729T>G n.716T>G | |
20 | g.46725566T= | CA2366796258 | SLC2A10 | c.530T= (p.Leu177=) c.593T= (p.Leu198=) c.539T= (p.Leu180=) n.729T= n.716T= | |
20 | g.46725567G>A | CA9891995 | SLC2A10 | c.531G>A (p.Leu177=) c.594G>A (p.Leu198=) c.540G>A (p.Leu180=) n.730G>A n.717G>A | dbSNP ExAC |
20 | g.46725567G>C | CA510847705 | SLC2A10 | c.531G>C (p.Leu177=) c.594G>C (p.Leu198=) c.540G>C (p.Leu180=) n.730G>C n.717G>C | |
20 | g.46725567G= | CA2366796259 | SLC2A10 | c.531G= (p.Leu177=) c.594G= (p.Leu198=) c.540G= (p.Leu180=) n.730G= n.717G= | |
20 | g.46725567G>T | CA510847704 | SLC2A10 | c.531G>T (p.Leu177=) c.594G>T (p.Leu198=) c.540G>T (p.Leu180=) n.730G>T n.717G>T |