Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.46725379_46725868delinsCCA2697547414SLC2A10c.343_832delinsC (p.Ser115_Ala278delinsPro)
c.406_895delinsC (p.Ser136_Ala299delinsPro)
c.352_841delinsC (p.Ser118_Ala281delinsPro)
n.542_1031delinsC
n.529_1018delinsC
ClinVar
20g.46725467C>ACA409266995SLC2A10c.431C>A (p.Thr144Asn)
n.583C>A
c.494C>A (p.Thr165Asn)
c.440C>A (p.Thr147Asn)
n.630C>A
n.617C>A
dbSNP
20g.46725467C=CA2366796218SLC2A10c.431C= (p.Thr144=)
n.583C=
c.494C= (p.Thr165=)
c.440C= (p.Thr147=)
n.630C=
n.617C=
20g.46725467C>GCA409266996SLC2A10c.431C>G (p.Thr144Ser)
n.583C>G
c.494C>G (p.Thr165Ser)
c.440C>G (p.Thr147Ser)
n.630C>G
n.617C>G
20g.46725467C>TCA9891973SLC2A10c.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
20g.46725468C>ACA9891975SLC2A10c.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
20g.46725468C=CA2366796219SLC2A10c.432C= (p.Thr144=)
n.584C=
c.495C= (p.Thr165=)
c.441C= (p.Thr147=)
n.631C=
n.618C=
20g.46725468C>GCA510847634SLC2A10c.432C>G (p.Thr144=)
n.584C>G
c.495C>G (p.Thr165=)
c.441C>G (p.Thr147=)
n.631C>G
n.618C>G
dbSNP
20g.46725468C>TCA9891974SLC2A10c.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
20g.46725469G>ACA9891976SLC2A10c.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
20g.46725469G>CCA409266998SLC2A10c.433G>C (p.Val145Leu)
n.585G>C
c.496G>C (p.Val166Leu)
c.442G>C (p.Val148Leu)
n.632G>C
n.619G>C
20g.46725469G=CA2366796220SLC2A10c.433G= (p.Val145=)
n.585G=
c.496G= (p.Val166=)
c.442G= (p.Val148=)
n.632G=
n.619G=
20g.46725469G>TCA409266997SLC2A10c.433G>T (p.Val145Leu)
n.585G>T
c.496G>T (p.Val166Leu)
c.442G>T (p.Val148Leu)
n.632G>T
n.619G>T
20g.46725470T>ACA409266999SLC2A10c.434T>A (p.Val145Glu)
n.586T>A
c.497T>A (p.Val166Glu)
c.443T>A (p.Val148Glu)
n.633T>A
n.620T>A
20g.46725470T>CCA315755638SLC2A10c.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
20g.46725470T>GCA409267000SLC2A10c.434T>G (p.Val145Gly)
n.586T>G
c.497T>G (p.Val166Gly)
c.443T>G (p.Val148Gly)
n.633T>G
n.620T>G
20g.46725470T=CA2366796221SLC2A10c.434T= (p.Val145=)
n.586T=
c.497T= (p.Val166=)
c.443T= (p.Val148=)
n.633T=
n.620T=
20g.46725471G>ACA315755642SLC2A10c.435G>A (p.Val145=)
c.498G>A (p.Val166=)
c.444G>A (p.Val148=)
n.634G>A
n.621G>A
dbSNP
20g.46725471G>CCA510847636SLC2A10c.435G>C (p.Val145=)
c.498G>C (p.Val166=)
c.444G>C (p.Val148=)
n.634G>C
n.621G>C
20g.46725471G=CA2366796222SLC2A10c.435G= (p.Val145=)
c.498G= (p.Val166=)
c.444G= (p.Val148=)
n.634G=
n.621G=
20g.46725471G>TCA510847635SLC2A10c.435G>T (p.Val145=)
c.498G>T (p.Val166=)
c.444G>T (p.Val148=)
n.634G>T
n.621G>T
20g.46725472G>ACA409267001SLC2A10c.436G>A (p.Gly146Ser)
c.499G>A (p.Gly167Ser)
c.445G>A (p.Gly149Ser)
n.635G>A
n.622G>A
20g.46725472G>CCA409267002SLC2A10c.436G>C (p.Gly146Arg)
c.499G>C (p.Gly167Arg)
c.445G>C (p.Gly149Arg)
n.635G>C
n.622G>C
20g.46725472G>TCA409267003SLC2A10c.436G>T (p.Gly146Cys)
c.499G>T (p.Gly167Cys)
c.445G>T (p.Gly149Cys)
n.635G>T
n.622G>T
20g.46725473G>ACA315755648SLC2A10c.437G>A (p.Gly146Asp)
c.500G>A (p.Gly167Asp)
c.446G>A (p.Gly149Asp)
n.636G>A
n.623G>A
dbSNP gnomAD v4 COSMIC
20g.46725473G>CCA409267004SLC2A10c.437G>C (p.Gly146Ala)
c.500G>C (p.Gly167Ala)
c.446G>C (p.Gly149Ala)
n.636G>C
n.623G>C
20g.46725473G=CA2366796223SLC2A10c.437G= (p.Gly146=)
c.500G= (p.Gly167=)
c.446G= (p.Gly149=)
n.636G=
n.623G=
20g.46725473G>TCA409267005SLC2A10c.437G>T (p.Gly146Val)
c.500G>T (p.Gly167Val)
c.446G>T (p.Gly149Val)
n.636G>T
n.623G>T
gnomAD v4
20g.46725474C>ACA510847637SLC2A10c.438C>A (p.Gly146=)
c.501C>A (p.Gly167=)
c.447C>A (p.Gly149=)
n.637C>A
n.624C>A
20g.46725474C>GCA510847638SLC2A10c.438C>G (p.Gly146=)
c.501C>G (p.Gly167=)
c.447C>G (p.Gly149=)
n.637C>G
n.624C>G
20g.46725474C>TCA510847639SLC2A10c.438C>T (p.Gly146=)
c.501C>T (p.Gly167=)
c.447C>T (p.Gly149=)
n.637C>T
n.624C>T
gnomAD v4 COSMIC
20g.46725475A>CCA409267006SLC2A10c.439A>C (p.Ile147Leu)
c.502A>C (p.Ile168Leu)
c.448A>C (p.Ile150Leu)
n.638A>C
n.625A>C
20g.46725475A>GCA409267007SLC2A10c.439A>G (p.Ile147Val)
c.502A>G (p.Ile168Val)
c.448A>G (p.Ile150Val)
n.638A>G
n.625A>G
20g.46725475A>TCA409267008SLC2A10c.439A>T (p.Ile147Phe)
c.502A>T (p.Ile168Phe)
c.448A>T (p.Ile150Phe)
n.638A>T
n.625A>T
20g.46725476T>ACA409267009SLC2A10c.440T>A (p.Ile147Asn)
c.503T>A (p.Ile168Asn)
c.449T>A (p.Ile150Asn)
n.639T>A
n.626T>A
20g.46725476T>CCA409267010SLC2A10c.440T>C (p.Ile147Thr)
c.503T>C (p.Ile168Thr)
c.449T>C (p.Ile150Thr)
n.639T>C
n.626T>C
20g.46725476T>GCA409267011SLC2A10c.440T>G (p.Ile147Ser)
c.503T>G (p.Ile168Ser)
c.449T>G (p.Ile150Ser)
n.639T>G
n.626T>G
20g.46725477C>ACA510847640SLC2A10c.441C>A (p.Ile147=)
c.504C>A (p.Ile168=)
c.450C>A (p.Ile150=)
n.640C>A
n.627C>A
20g.46725477C>GCA409267012SLC2A10c.441C>G (p.Ile147Met)
c.504C>G (p.Ile168Met)
c.450C>G (p.Ile150Met)
n.640C>G
n.627C>G
20g.46725477C>TCA510847641SLC2A10c.441C>T (p.Ile147=)
c.504C>T (p.Ile168=)
c.450C>T (p.Ile150=)
n.640C>T
n.627C>T
gnomAD v4 COSMIC
20g.46725478C>ACA409267013SLC2A10c.442C>A (p.Leu148Met)
c.505C>A (p.Leu169Met)
c.451C>A (p.Leu151Met)
n.641C>A
n.628C>A
20g.46725478C>GCA409267014SLC2A10c.442C>G (p.Leu148Val)
c.505C>G (p.Leu169Val)
c.451C>G (p.Leu151Val)
n.641C>G
n.628C>G
20g.46725478C>TCA510847642SLC2A10c.442C>T (p.Leu148=)
c.505C>T (p.Leu169=)
c.451C>T (p.Leu151=)
n.641C>T
n.628C>T
gnomAD v4
20g.46725479T>ACA409267015SLC2A10c.443T>A (p.Leu148Gln)
c.506T>A (p.Leu169Gln)
c.452T>A (p.Leu151Gln)
n.642T>A
n.629T>A
20g.46725479T>CCA321509SLC2A10c.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
20g.46725479T>GCA409267016SLC2A10c.443T>G (p.Leu148Arg)
c.506T>G (p.Leu169Arg)
c.452T>G (p.Leu151Arg)
n.642T>G
n.629T>G
20g.46725479T=CA2366796224SLC2A10c.443T= (p.Leu148=)
c.506T= (p.Leu169=)
c.452T= (p.Leu151=)
n.642T=
n.629T=
20g.46725480G>ACA510847643SLC2A10c.444G>A (p.Leu148=)
c.507G>A (p.Leu169=)
c.453G>A (p.Leu151=)
n.643G>A
n.630G>A
gnomAD v4
20g.46725480G>CCA510847644SLC2A10c.444G>C (p.Leu148=)
c.507G>C (p.Leu169=)
c.453G>C (p.Leu151=)
n.643G>C
n.630G>C
20g.46725480G>TCA510847645SLC2A10c.444G>T (p.Leu148=)
c.507G>T (p.Leu169=)
c.453G>T (p.Leu151=)
n.643G>T
n.630G>T
20g.46725481C>ACA409267017SLC2A10c.445C>A (p.Leu149Ile)
c.508C>A (p.Leu170Ile)
c.454C>A (p.Leu152Ile)
n.644C>A
n.631C>A
20g.46725481C>GCA409267019SLC2A10c.445C>G (p.Leu149Val)
c.508C>G (p.Leu170Val)
c.454C>G (p.Leu152Val)
n.644C>G
n.631C>G
20g.46725481C>TCA409267018SLC2A10c.445C>T (p.Leu149Phe)
c.508C>T (p.Leu170Phe)
c.454C>T (p.Leu152Phe)
n.644C>T
n.631C>T
20g.46725482T>ACA409267020SLC2A10c.446T>A (p.Leu149His)
c.509T>A (p.Leu170His)
c.455T>A (p.Leu152His)
n.645T>A
n.632T>A
20g.46725482T>CCA409267022SLC2A10c.446T>C (p.Leu149Pro)
c.509T>C (p.Leu170Pro)
c.455T>C (p.Leu152Pro)
n.645T>C
n.632T>C
20g.46725482T>GCA409267021SLC2A10c.446T>G (p.Leu149Arg)
c.509T>G (p.Leu170Arg)
c.455T>G (p.Leu152Arg)
n.645T>G
n.632T>G
20g.46725483C>ACA510847646SLC2A10c.447C>A (p.Leu149=)
c.510C>A (p.Leu170=)
c.456C>A (p.Leu152=)
n.646C>A
n.633C>A
20g.46725483C=CA2366796225SLC2A10c.447C= (p.Leu149=)
c.510C= (p.Leu170=)
c.456C= (p.Leu152=)
n.646C=
n.633C=
20g.46725483C>GCA510847648SLC2A10c.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
20g.46725483C>TCA510847647SLC2A10c.447C>T (p.Leu149=)
c.510C>T (p.Leu170=)
c.456C>T (p.Leu152=)
n.646C>T
n.633C>T
dbSNP gnomAD v4
20g.46725484T>ACA409267023SLC2A10c.448T>A (p.Ser150Thr)
c.511T>A (p.Ser171Thr)
c.457T>A (p.Ser153Thr)
n.647T>A
n.634T>A
20g.46725484T>CCA409267024SLC2A10c.448T>C (p.Ser150Pro)
c.511T>C (p.Ser171Pro)
c.457T>C (p.Ser153Pro)
n.647T>C
n.634T>C
20g.46725484T>GCA409267025SLC2A10c.448T>G (p.Ser150Ala)
c.511T>G (p.Ser171Ala)
c.457T>G (p.Ser153Ala)
n.647T>G
n.634T>G
20g.46725485C>ACA409267026SLC2A10c.449C>A (p.Ser150Tyr)
c.512C>A (p.Ser171Tyr)
c.458C>A (p.Ser153Tyr)
n.648C>A
n.635C>A
20g.46725485C>GCA409267027SLC2A10c.449C>G (p.Ser150Cys)
c.512C>G (p.Ser171Cys)
c.458C>G (p.Ser153Cys)
n.648C>G
n.635C>G
20g.46725485C>TCA409267028SLC2A10c.449C>T (p.Ser150Phe)
c.512C>T (p.Ser171Phe)
c.458C>T (p.Ser153Phe)
n.648C>T
n.635C>T
20g.46725485_46725497delinsCCTATGCCCTCAACA2366796226SLC2A10c.449_461delinsCCTATGCCCTCAA (p.Ser150=)
c.512_524delinsCCTATGCCCTCAA (p.Ser171=)
c.458_470delinsCCTATGCCCTCAA (p.Ser153=)
n.648_660delinsCCTATGCCCTCAA
n.635_647delinsCCTATGCCCTCAA
20g.46725486C>ACA510847649SLC2A10c.450C>A (p.Ser150=)
c.513C>A (p.Ser171=)
c.459C>A (p.Ser153=)
n.649C>A
n.636C>A
20g.46725486C>GCA510847650SLC2A10c.450C>G (p.Ser150=)
c.513C>G (p.Ser171=)
c.459C>G (p.Ser153=)
n.649C>G
n.636C>G
dbSNP
20g.46725486C>TCA510847651SLC2A10c.450C>T (p.Ser150=)
c.513C>T (p.Ser171=)
c.459C>T (p.Ser153=)
n.649C>T
n.636C>T
gnomAD v4
20g.46725492_46725503delCA636177761SLC2A10c.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
20g.46725487T>ACA409267029SLC2A10c.451T>A (p.Tyr151Asn)
c.514T>A (p.Tyr172Asn)
c.460T>A (p.Tyr154Asn)
n.650T>A
n.637T>A
20g.46725487T>CCA409267030SLC2A10c.451T>C (p.Tyr151His)
c.514T>C (p.Tyr172His)
c.460T>C (p.Tyr154His)
n.650T>C
n.637T>C
20g.46725487T>GCA409267031SLC2A10c.451T>G (p.Tyr151Asp)
c.514T>G (p.Tyr172Asp)
c.460T>G (p.Tyr154Asp)
n.650T>G
n.637T>G
20g.46725488A>CCA409267032SLC2A10c.452A>C (p.Tyr151Ser)
c.515A>C (p.Tyr172Ser)
c.461A>C (p.Tyr154Ser)
n.651A>C
n.638A>C
20g.46725488A>GCA409267033SLC2A10c.452A>G (p.Tyr151Cys)
c.515A>G (p.Tyr172Cys)
c.461A>G (p.Tyr154Cys)
n.651A>G
n.638A>G
gnomAD v4
20g.46725488A>TCA409267034SLC2A10c.452A>T (p.Tyr151Phe)
c.515A>T (p.Tyr172Phe)
c.461A>T (p.Tyr154Phe)
n.651A>T
n.638A>T
20g.46725489T>ACA409267036SLC2A10c.453T>A (p.Tyr151Ter)
c.516T>A (p.Tyr172Ter)
c.462T>A (p.Tyr154Ter)
n.652T>A
n.639T>A
20g.46725489T>CCA510847652SLC2A10c.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
20g.46725489T>GCA409267035SLC2A10c.453T>G (p.Tyr151Ter)
c.516T>G (p.Tyr172Ter)
c.462T>G (p.Tyr154Ter)
n.652T>G
n.639T>G
20g.46725489T=CA2366796227SLC2A10c.453T= (p.Tyr151=)
c.516T= (p.Tyr172=)
c.462T= (p.Tyr154=)
n.652T=
n.639T=
20g.46725490G>ACA409267037SLC2A10c.454G>A (p.Ala152Thr)
c.517G>A (p.Ala173Thr)
c.463G>A (p.Ala155Thr)
n.653G>A
n.640G>A
20g.46725490G>CCA409267038SLC2A10c.454G>C (p.Ala152Pro)
c.517G>C (p.Ala173Pro)
c.463G>C (p.Ala155Pro)
n.653G>C
n.640G>C
20g.46725490G>TCA409267039SLC2A10c.454G>T (p.Ala152Ser)
c.517G>T (p.Ala173Ser)
c.463G>T (p.Ala155Ser)
n.653G>T
n.640G>T
20g.46725491C>ACA409267040SLC2A10c.455C>A (p.Ala152Asp)
c.518C>A (p.Ala173Asp)
c.464C>A (p.Ala155Asp)
n.654C>A
n.641C>A
20g.46725491C=CA2366796228SLC2A10c.455C= (p.Ala152=)
c.518C= (p.Ala173=)
c.464C= (p.Ala155=)
n.654C=
n.641C=
20g.46725491C>GCA409267041SLC2A10c.455C>G (p.Ala152Gly)
c.518C>G (p.Ala173Gly)
c.464C>G (p.Ala155Gly)
n.654C>G
n.641C>G
20g.46725491C>TCA9891977SLC2A10c.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
20g.46725492C>ACA510847653SLC2A10c.456C>A (p.Ala152=)
c.519C>A (p.Ala173=)
c.465C>A (p.Ala155=)
n.655C>A
n.642C>A
20g.46725492C>GCA510847654SLC2A10c.456C>G (p.Ala152=)
c.519C>G (p.Ala173=)
c.465C>G (p.Ala155=)
n.655C>G
n.642C>G
20g.46725492C>TCA510847655SLC2A10c.456C>T (p.Ala152=)
c.519C>T (p.Ala173=)
c.465C>T (p.Ala155=)
n.655C>T
n.642C>T
gnomAD v4
20g.46725493C>ACA409267042SLC2A10c.457C>A (p.Leu153Ile)
c.520C>A (p.Leu174Ile)
c.466C>A (p.Leu156Ile)
n.656C>A
n.643C>A
20g.46725493C>GCA409267043SLC2A10c.457C>G (p.Leu153Val)
c.520C>G (p.Leu174Val)
c.466C>G (p.Leu156Val)
n.656C>G
n.643C>G
20g.46725493C>TCA409267044SLC2A10c.457C>T (p.Leu153Phe)
c.520C>T (p.Leu174Phe)
c.466C>T (p.Leu156Phe)
n.656C>T
n.643C>T
gnomAD v4
20g.46725494T>ACA409267045SLC2A10c.458T>A (p.Leu153His)
c.521T>A (p.Leu174His)
c.467T>A (p.Leu156His)
n.657T>A
n.644T>A
20g.46725494T>CCA409267046SLC2A10c.458T>C (p.Leu153Pro)
c.521T>C (p.Leu174Pro)
c.467T>C (p.Leu156Pro)
n.657T>C
n.644T>C
dbSNP
20g.46725494T>GCA409267047SLC2A10c.458T>G (p.Leu153Arg)
c.521T>G (p.Leu174Arg)
c.467T>G (p.Leu156Arg)
n.657T>G
n.644T>G
20g.46725494T=CA2366796229SLC2A10c.458T= (p.Leu153=)
c.521T= (p.Leu174=)
c.467T= (p.Leu156=)
n.657T=
n.644T=
20g.46725495C>ACA510847656SLC2A10c.459C>A (p.Leu153=)
c.522C>A (p.Leu174=)
c.468C>A (p.Leu156=)
n.658C>A
n.645C>A
20g.46725495C=CA2366796230SLC2A10c.459C= (p.Leu153=)
c.522C= (p.Leu174=)
c.468C= (p.Leu156=)
n.658C=
n.645C=
20g.46725495C>GCA510847657SLC2A10c.459C>G (p.Leu153=)
c.522C>G (p.Leu174=)
c.468C>G (p.Leu156=)
n.658C>G
n.645C>G
dbSNP
20g.46725495C>TCA510847658SLC2A10c.459C>T (p.Leu153=)
c.522C>T (p.Leu174=)
c.468C>T (p.Leu156=)
n.658C>T
n.645C>T
20g.46725496A=CA2366796231SLC2A10c.460A= (p.Asn154=)
c.523A= (p.Asn175=)
c.469A= (p.Asn157=)
n.659A=
n.646A=
20g.46725496A>CCA409267049SLC2A10c.460A>C (p.Asn154His)
c.523A>C (p.Asn175His)
c.469A>C (p.Asn157His)
n.659A>C
n.646A>C
20g.46725496A>GCA9891978SLC2A10c.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
20g.46725496A>TCA409267048SLC2A10c.460A>T (p.Asn154Tyr)
c.523A>T (p.Asn175Tyr)
c.469A>T (p.Asn157Tyr)
n.659A>T
n.646A>T
20g.46725497A>CCA409267050SLC2A10c.461A>C (p.Asn154Thr)
c.524A>C (p.Asn175Thr)
c.470A>C (p.Asn157Thr)
n.660A>C
n.647A>C
20g.46725497A>GCA409267051SLC2A10c.461A>G (p.Asn154Ser)
c.524A>G (p.Asn175Ser)
c.470A>G (p.Asn157Ser)
n.660A>G
n.647A>G
20g.46725497A>TCA409267052SLC2A10c.461A>T (p.Asn154Ile)
c.524A>T (p.Asn175Ile)
c.470A>T (p.Asn157Ile)
n.660A>T
n.647A>T
20g.46725498C>ACA409267053SLC2A10c.462C>A (p.Asn154Lys)
c.525C>A (p.Asn175Lys)
c.471C>A (p.Asn157Lys)
n.661C>A
n.648C>A
gnomAD v4
20g.46725498C=CA2366796232SLC2A10c.462C= (p.Asn154=)
c.525C= (p.Asn175=)
c.471C= (p.Asn157=)
n.661C=
n.648C=
20g.46725498C>GCA079994SLC2A10c.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
20g.46725498C>TCA510847659SLC2A10c.462C>T (p.Asn154=)
c.525C>T (p.Asn175=)
c.471C>T (p.Asn157=)
n.661C>T
n.648C>T
20g.46725499T>ACA409267054SLC2A10c.463T>A (p.Tyr155Asn)
c.526T>A (p.Tyr176Asn)
c.472T>A (p.Tyr158Asn)
n.662T>A
n.649T>A
20g.46725499T>CCA409267055SLC2A10c.463T>C (p.Tyr155His)
c.526T>C (p.Tyr176His)
c.472T>C (p.Tyr158His)
n.662T>C
n.649T>C
20g.46725499T>GCA409267056SLC2A10c.463T>G (p.Tyr155Asp)
c.526T>G (p.Tyr176Asp)
c.472T>G (p.Tyr158Asp)
n.662T>G
n.649T>G
20g.46725500A=CA2366796233SLC2A10c.464A= (p.Tyr155=)
c.527A= (p.Tyr176=)
c.473A= (p.Tyr158=)
n.663A=
n.650A=
20g.46725500A>CCA409267057SLC2A10c.464A>C (p.Tyr155Ser)
c.527A>C (p.Tyr176Ser)
c.473A>C (p.Tyr158Ser)
n.663A>C
n.650A>C
ClinVar dbSNP gnomAD v4
20g.46725500A>GCA315755666SLC2A10c.464A>G (p.Tyr155Cys)
c.527A>G (p.Tyr176Cys)
c.473A>G (p.Tyr158Cys)
n.663A>G
n.650A>G
dbSNP gnomAD v4
20g.46725500A>TCA409267058SLC2A10c.464A>T (p.Tyr155Phe)
c.527A>T (p.Tyr176Phe)
c.473A>T (p.Tyr158Phe)
n.663A>T
n.650A>T
20g.46725500_46725501insCGCA2560576181SLC2A10c.464_465insCG (p.Ala156ValfsTer?)
c.527_528insCG (p.Ala177ValfsTer?)
c.473_474insCG (p.Ala159ValfsTer?)
n.663_664insCG
n.650_651insCG
20g.46725501T>ACA409267059SLC2A10c.465T>A (p.Tyr155Ter)
c.528T>A (p.Tyr176Ter)
c.474T>A (p.Tyr158Ter)
n.664T>A
n.651T>A
20g.46725501T>CCA510847660SLC2A10c.465T>C (p.Tyr155=)
c.528T>C (p.Tyr176=)
c.474T>C (p.Tyr158=)
n.664T>C
n.651T>C
20g.46725501T>GCA409267060SLC2A10c.465T>G (p.Tyr155Ter)
c.528T>G (p.Tyr176Ter)
c.474T>G (p.Tyr158Ter)
n.664T>G
n.651T>G
20g.46725502G>ACA409267063SLC2A10c.466G>A (p.Ala156Thr)
c.529G>A (p.Ala177Thr)
c.475G>A (p.Ala159Thr)
n.665G>A
n.652G>A
20g.46725502G>CCA409267061SLC2A10c.466G>C (p.Ala156Pro)
c.529G>C (p.Ala177Pro)
c.475G>C (p.Ala159Pro)
n.665G>C
n.652G>C
20g.46725502G>TCA409267062SLC2A10c.466G>T (p.Ala156Ser)
c.529G>T (p.Ala177Ser)
c.475G>T (p.Ala159Ser)
n.665G>T
n.652G>T
20g.46725503C>ACA409267064SLC2A10c.467C>A (p.Ala156Glu)
c.530C>A (p.Ala177Glu)
c.476C>A (p.Ala159Glu)
n.666C>A
n.653C>A
20g.46725503C>GCA409267065SLC2A10c.467C>G (p.Ala156Gly)
c.530C>G (p.Ala177Gly)
c.476C>G (p.Ala159Gly)
n.666C>G
n.653C>G
20g.46725503C>TCA409267066SLC2A10c.467C>T (p.Ala156Val)
c.530C>T (p.Ala177Val)
c.476C>T (p.Ala159Val)
n.666C>T
n.653C>T
gnomAD v4
20g.46725504_46725505delCA2527029223SLC2A10c.468_469del (p.Leu157GlyfsTer?)
c.531_532del (p.Leu178GlyfsTer?)
c.477_478del (p.Leu160GlyfsTer?)
n.667_668del
n.654_655del
20g.46725504A>CCA510847661SLC2A10c.468A>C (p.Ala156=)
c.531A>C (p.Ala177=)
c.477A>C (p.Ala159=)
n.667A>C
n.654A>C
20g.46725504A>GCA510847662SLC2A10c.468A>G (p.Ala156=)
c.531A>G (p.Ala177=)
c.477A>G (p.Ala159=)
n.667A>G
n.654A>G
20g.46725504A>TCA510847663SLC2A10c.468A>T (p.Ala156=)
c.531A>T (p.Ala177=)
c.477A>T (p.Ala159=)
n.667A>T
n.654A>T
20g.46725505C>ACA409267067SLC2A10c.469C>A (p.Leu157Met)
c.532C>A (p.Leu178Met)
c.478C>A (p.Leu160Met)
n.668C>A
n.655C>A
20g.46725505C>GCA409267068SLC2A10c.469C>G (p.Leu157Val)
c.532C>G (p.Leu178Val)
c.478C>G (p.Leu160Val)
n.668C>G
n.655C>G
20g.46725505C>TCA510847664SLC2A10c.469C>T (p.Leu157=)
c.532C>T (p.Leu178=)
c.478C>T (p.Leu160=)
n.668C>T
n.655C>T
20g.46725509_46725512delCA2580615418SLC2A10c.473_476del (p.Ala158ValfsTer?)
c.536_539del (p.Ala179ValfsTer?)
c.482_485del (p.Ala161ValfsTer?)
n.672_675del
n.659_662del
ClinVar dbSNP
20g.46725506T>ACA409267069SLC2A10c.470T>A (p.Leu157Gln)
c.533T>A (p.Leu178Gln)
c.479T>A (p.Leu160Gln)
n.669T>A
n.656T>A
20g.46725506T>CCA409267070SLC2A10c.470T>C (p.Leu157Pro)
c.533T>C (p.Leu178Pro)
c.479T>C (p.Leu160Pro)
n.669T>C
n.656T>C
20g.46725506T>GCA409267071SLC2A10c.470T>G (p.Leu157Arg)
c.533T>G (p.Leu178Arg)
c.479T>G (p.Leu160Arg)
n.669T>G
n.656T>G
20g.46725507G>ACA9891979SLC2A10c.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
20g.46725507G>CCA510847665SLC2A10c.471G>C (p.Leu157=)
c.534G>C (p.Leu178=)
c.480G>C (p.Leu160=)
n.670G>C
n.657G>C
20g.46725507G=CA2366796234SLC2A10c.471G= (p.Leu157=)
c.534G= (p.Leu178=)
c.480G= (p.Leu160=)
n.670G=
n.657G=
20g.46725507G>TCA510847666SLC2A10c.471G>T (p.Leu157=)
c.534G>T (p.Leu178=)
c.480G>T (p.Leu160=)
n.670G>T
n.657G>T
20g.46725508G>ACA409267072SLC2A10c.472G>A (p.Ala158Thr)
c.535G>A (p.Ala179Thr)
c.481G>A (p.Ala161Thr)
n.671G>A
n.658G>A
20g.46725508G>CCA409267073SLC2A10c.472G>C (p.Ala158Pro)
c.535G>C (p.Ala179Pro)
c.481G>C (p.Ala161Pro)
n.671G>C
n.658G>C
dbSNP
20g.46725508G=CA2366796235SLC2A10c.472G= (p.Ala158=)
c.535G= (p.Ala179=)
c.481G= (p.Ala161=)
n.671G=
n.658G=
20g.46725508G>TCA409267074SLC2A10c.472G>T (p.Ala158Ser)
c.535G>T (p.Ala179Ser)
c.481G>T (p.Ala161Ser)
n.671G>T
n.658G>T
20g.46725509C>ACA409267076SLC2A10c.473C>A (p.Ala158Asp)
c.536C>A (p.Ala179Asp)
c.482C>A (p.Ala161Asp)
n.672C>A
n.659C>A
20g.46725509C>GCA409267077SLC2A10c.473C>G (p.Ala158Gly)
c.536C>G (p.Ala179Gly)
c.482C>G (p.Ala161Gly)
n.672C>G
n.659C>G
20g.46725509C>TCA409267075SLC2A10c.473C>T (p.Ala158Val)
c.536C>T (p.Ala179Val)
c.482C>T (p.Ala161Val)
n.672C>T
n.659C>T
gnomAD v4
20g.46725510T>ACA510847667SLC2A10c.474T>A (p.Ala158=)
c.537T>A (p.Ala179=)
c.483T>A (p.Ala161=)
n.673T>A
n.660T>A
20g.46725510T>CCA510847668SLC2A10c.474T>C (p.Ala158=)
c.537T>C (p.Ala179=)
c.483T>C (p.Ala161=)
n.673T>C
n.660T>C
gnomAD v4
20g.46725510T>GCA510847669SLC2A10c.474T>G (p.Ala158=)
c.537T>G (p.Ala179=)
c.483T>G (p.Ala161=)
n.673T>G
n.660T>G
20g.46725511G>ACA409267078SLC2A10c.475G>A (p.Gly159Ser)
c.538G>A (p.Gly180Ser)
c.484G>A (p.Gly162Ser)
n.674G>A
n.661G>A
20g.46725511G>CCA409267079SLC2A10c.475G>C (p.Gly159Arg)
c.538G>C (p.Gly180Arg)
c.484G>C (p.Gly162Arg)
n.674G>C
n.661G>C
20g.46725511G=CA2366796236SLC2A10c.475G= (p.Gly159=)
c.538G= (p.Gly180=)
c.484G= (p.Gly162=)
n.674G=
n.661G=
20g.46725511G>TCA9891980SLC2A10c.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
20g.46725512G>ACA409267080SLC2A10c.476G>A (p.Gly159Asp)
c.539G>A (p.Gly180Asp)
c.485G>A (p.Gly162Asp)
n.675G>A
n.662G>A
20g.46725512G>CCA315755686SLC2A10c.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
20g.46725512G=CA2366796237SLC2A10c.476G= (p.Gly159=)
c.539G= (p.Gly180=)
c.485G= (p.Gly162=)
n.675G=
n.662G=
20g.46725512G>TCA409267081SLC2A10c.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
20g.46725513T>ACA510847670SLC2A10c.477T>A (p.Gly159=)
c.540T>A (p.Gly180=)
c.486T>A (p.Gly162=)
n.676T>A
n.663T>A
20g.46725513T>CCA510847671SLC2A10c.477T>C (p.Gly159=)
c.540T>C (p.Gly180=)
c.486T>C (p.Gly162=)
n.676T>C
n.663T>C
gnomAD v4
20g.46725513T>GCA9891981SLC2A10c.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
20g.46725513T=CA2366796238SLC2A10c.477T= (p.Gly159=)
c.540T= (p.Gly180=)
c.486T= (p.Gly162=)
n.676T=
n.663T=
20g.46725514A>CCA409267082SLC2A10c.478A>C (p.Thr160Pro)
c.541A>C (p.Thr181Pro)
c.487A>C (p.Thr163Pro)
n.677A>C
n.664A>C
20g.46725514A>GCA409267083SLC2A10c.478A>G (p.Thr160Ala)
c.541A>G (p.Thr181Ala)
c.487A>G (p.Thr163Ala)
n.677A>G
n.664A>G
20g.46725514A>TCA409267084SLC2A10c.478A>T (p.Thr160Ser)
c.541A>T (p.Thr181Ser)
c.487A>T (p.Thr163Ser)
n.677A>T
n.664A>T
gnomAD v4
20g.46725515C>ACA409267085SLC2A10c.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
20g.46725515C=CA2366796239SLC2A10c.479C= (p.Thr160=)
c.542C= (p.Thr181=)
c.488C= (p.Thr163=)
n.678C=
n.665C=
20g.46725515C>GCA9891982SLC2A10c.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
20g.46725515C>TCA9891983SLC2A10c.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
20g.46725519dupCA2653170811SLC2A10c.483dup (p.Trp162LeufsTer30)
c.546dup (p.Trp183LeufsTer30)
c.492dup (p.Trp165LeufsTer30)
n.682dup
n.669dup
gnomAD v4
20g.46725519delCA2573157155SLC2A10c.483del (p.Trp162GlyfsTer?)
c.546del (p.Trp183GlyfsTer?)
c.492del (p.Trp165GlyfsTer?)
n.682del
n.669del
ClinVar dbSNP
20g.46725516C>ACA510847672SLC2A10c.480C>A (p.Thr160=)
c.543C>A (p.Thr181=)
c.489C>A (p.Thr163=)
n.679C>A
n.666C>A
20g.46725516C>GCA510847673SLC2A10c.480C>G (p.Thr160=)
c.543C>G (p.Thr181=)
c.489C>G (p.Thr163=)
n.679C>G
n.666C>G
gnomAD v4
20g.46725516C>TCA510847674SLC2A10c.480C>T (p.Thr160=)
c.543C>T (p.Thr181=)
c.489C>T (p.Thr163=)
n.679C>T
n.666C>T
20g.46725517C>ACA409267086SLC2A10c.481C>A (p.Pro161Thr)
c.544C>A (p.Pro182Thr)
c.490C>A (p.Pro164Thr)
n.680C>A
n.667C>A
20g.46725517C=CA2366796240SLC2A10c.481C= (p.Pro161=)
c.544C= (p.Pro182=)
c.490C= (p.Pro164=)
n.680C=
n.667C=
20g.46725517C>GCA409267087SLC2A10c.481C>G (p.Pro161Ala)
c.544C>G (p.Pro182Ala)
c.490C>G (p.Pro164Ala)
n.680C>G
n.667C>G
dbSNP gnomAD v2
20g.46725517C>TCA409267088SLC2A10c.481C>T (p.Pro161Ser)
c.544C>T (p.Pro182Ser)
c.490C>T (p.Pro164Ser)
n.680C>T
n.667C>T
gnomAD v4
20g.46725518C>ACA9891984SLC2A10c.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
20g.46725518C=CA2366796241SLC2A10c.482C= (p.Pro161=)
c.545C= (p.Pro182=)
c.491C= (p.Pro164=)
n.681C=
n.668C=
20g.46725518C>GCA409267089SLC2A10c.482C>G (p.Pro161Arg)
c.545C>G (p.Pro182Arg)
c.491C>G (p.Pro164Arg)
n.681C>G
n.668C>G
20g.46725518C>TCA9891985SLC2A10c.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
20g.46725519C>ACA510847677SLC2A10c.483C>A (p.Pro161=)
c.546C>A (p.Pro182=)
c.492C>A (p.Pro164=)
n.682C>A
n.669C>A
gnomAD v4
20g.46725519C>GCA510847676SLC2A10c.483C>G (p.Pro161=)
c.546C>G (p.Pro182=)
c.492C>G (p.Pro164=)
n.682C>G
n.669C>G
20g.46725519C>TCA510847675SLC2A10c.483C>T (p.Pro161=)
c.546C>T (p.Pro182=)
c.492C>T (p.Pro164=)
n.682C>T
n.669C>T
20g.46725519_46725520delinsCTCA2366796242SLC2A10c.483_484delinsCT (p.Pro161=)
c.546_547delinsCT (p.Pro182=)
c.492_493delinsCT (p.Pro164=)
n.682_683delinsCT
n.669_670delinsCT
20g.46725520delCA1017976908SLC2A10c.484del (p.Trp162GlyfsTer?)
c.547del (p.Trp183GlyfsTer?)
c.493del (p.Trp165GlyfsTer?)
n.683del
n.670del
dbSNP gnomAD v3 gnomAD v4
20g.46725520T>ACA409267090SLC2A10c.484T>A (p.Trp162Arg)
c.547T>A (p.Trp183Arg)
c.493T>A (p.Trp165Arg)
n.683T>A
n.670T>A
20g.46725520T>CCA9891986SLC2A10c.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
20g.46725520T>GCA409267091SLC2A10c.484T>G (p.Trp162Gly)
c.547T>G (p.Trp183Gly)
c.493T>G (p.Trp165Gly)
n.683T>G
n.670T>G
20g.46725520T=CA2366796243SLC2A10c.484T= (p.Trp162=)
c.547T= (p.Trp183=)
c.493T= (p.Trp165=)
n.683T=
n.670T=
20g.46725521G>ACA409267092SLC2A10c.485G>A (p.Trp162Ter)
c.548G>A (p.Trp183Ter)
c.494G>A (p.Trp165Ter)
n.684G>A
n.671G>A
ClinVar dbSNP
20g.46725521G>CCA409267093SLC2A10c.485G>C (p.Trp162Ser)
c.548G>C (p.Trp183Ser)
c.494G>C (p.Trp165Ser)
n.684G>C
n.671G>C
20g.46725521G>TCA409267094SLC2A10c.485G>T (p.Trp162Leu)
c.548G>T (p.Trp183Leu)
c.494G>T (p.Trp165Leu)
n.684G>T
n.671G>T
20g.46725522G>ACA409267095SLC2A10c.486G>A (p.Trp162Ter)
c.549G>A (p.Trp183Ter)
c.495G>A (p.Trp165Ter)
n.685G>A
n.672G>A
20g.46725522G>CCA409267096SLC2A10c.486G>C (p.Trp162Cys)
c.549G>C (p.Trp183Cys)
c.495G>C (p.Trp165Cys)
n.685G>C
n.672G>C
20g.46725522G>TCA409267097SLC2A10c.486G>T (p.Trp162Cys)
c.549G>T (p.Trp183Cys)
c.495G>T (p.Trp165Cys)
n.685G>T
n.672G>T
20g.46725523G>ACA409267098SLC2A10c.487G>A (p.Gly163Arg)
c.550G>A (p.Gly184Arg)
c.496G>A (p.Gly166Arg)
n.686G>A
n.673G>A
20g.46725523G>CCA409267099SLC2A10c.487G>C (p.Gly163Arg)
c.550G>C (p.Gly184Arg)
c.496G>C (p.Gly166Arg)
n.686G>C
n.673G>C
20g.46725523G>TCA409267100SLC2A10c.487G>T (p.Gly163Ter)
c.550G>T (p.Gly184Ter)
c.496G>T (p.Gly166Ter)
n.686G>T
n.673G>T
20g.46725524G>ACA409267103SLC2A10c.488G>A (p.Gly163Glu)
c.551G>A (p.Gly184Glu)
c.497G>A (p.Gly166Glu)
n.687G>A
n.674G>A
gnomAD v4 COSMIC
20g.46725524G>CCA409267102SLC2A10c.488G>C (p.Gly163Ala)
c.551G>C (p.Gly184Ala)
c.497G>C (p.Gly166Ala)
n.687G>C
n.674G>C
20g.46725524G>TCA409267101SLC2A10c.488G>T (p.Gly163Val)
c.551G>T (p.Gly184Val)
c.497G>T (p.Gly166Val)
n.687G>T
n.674G>T
20g.46725525A=CA2366796244SLC2A10c.489A= (p.Gly163=)
c.552A= (p.Gly184=)
c.498A= (p.Gly166=)
n.688A=
n.675A=
20g.46725525A>CCA510847678SLC2A10c.489A>C (p.Gly163=)
c.552A>C (p.Gly184=)
c.498A>C (p.Gly166=)
n.688A>C
n.675A>C
20g.46725525A>GCA510847680SLC2A10c.489A>G (p.Gly163=)
c.552A>G (p.Gly184=)
c.498A>G (p.Gly166=)
n.688A>G
n.675A>G
dbSNP
20g.46725525A>TCA510847679SLC2A10c.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
20g.46725526T>ACA409267104SLC2A10c.490T>A (p.Trp164Arg)
c.553T>A (p.Trp185Arg)
c.499T>A (p.Trp167Arg)
n.689T>A
n.676T>A
20g.46725526T>CCA409267105SLC2A10c.490T>C (p.Trp164Arg)
c.553T>C (p.Trp185Arg)
c.499T>C (p.Trp167Arg)
n.689T>C
n.676T>C
gnomAD v4
20g.46725526T>GCA409267106SLC2A10c.490T>G (p.Trp164Gly)
c.553T>G (p.Trp185Gly)
c.499T>G (p.Trp167Gly)
n.689T>G
n.676T>G
20g.46725527G>ACA409267107SLC2A10c.491G>A (p.Trp164Ter)
c.554G>A (p.Trp185Ter)
c.500G>A (p.Trp167Ter)
n.690G>A
n.677G>A
20g.46725527G>CCA409267108SLC2A10c.491G>C (p.Trp164Ser)
c.554G>C (p.Trp185Ser)
c.500G>C (p.Trp167Ser)
n.690G>C
n.677G>C
20g.46725527G>TCA409267109SLC2A10c.491G>T (p.Trp164Leu)
c.554G>T (p.Trp185Leu)
c.500G>T (p.Trp167Leu)
n.690G>T
n.677G>T
20g.46725528G>ACA409267110SLC2A10c.492G>A (p.Trp164Ter)
c.555G>A (p.Trp185Ter)
c.501G>A (p.Trp167Ter)
n.691G>A
n.678G>A
20g.46725528G>CCA409267111SLC2A10c.492G>C (p.Trp164Cys)
c.555G>C (p.Trp185Cys)
c.501G>C (p.Trp167Cys)
n.691G>C
n.678G>C
gnomAD v4
20g.46725528G>TCA409267112SLC2A10c.492G>T (p.Trp164Cys)
c.555G>T (p.Trp185Cys)
c.501G>T (p.Trp167Cys)
n.691G>T
n.678G>T
20g.46725529A>CCA510847681SLC2A10c.493A>C (p.Arg165=)
c.556A>C (p.Arg186=)
c.502A>C (p.Arg168=)
n.692A>C
n.679A>C
20g.46725529A>GCA409267113SLC2A10c.493A>G (p.Arg165Gly)
c.556A>G (p.Arg186Gly)
c.502A>G (p.Arg168Gly)
n.692A>G
n.679A>G
20g.46725529A>TCA409267114SLC2A10c.493A>T (p.Arg165Trp)
c.556A>T (p.Arg186Trp)
c.502A>T (p.Arg168Trp)
n.692A>T
n.679A>T
20g.46725530G>ACA409267117SLC2A10c.494G>A (p.Arg165Lys)
c.557G>A (p.Arg186Lys)
c.503G>A (p.Arg168Lys)
n.693G>A
n.680G>A
20g.46725530G>CCA409267116SLC2A10c.494G>C (p.Arg165Thr)
c.557G>C (p.Arg186Thr)
c.503G>C (p.Arg168Thr)
n.693G>C
n.680G>C
20g.46725530G>TCA409267115SLC2A10c.494G>T (p.Arg165Met)
c.557G>T (p.Arg186Met)
c.503G>T (p.Arg168Met)
n.693G>T
n.680G>T
20g.46725531G>ACA510847682SLC2A10c.495G>A (p.Arg165=)
c.558G>A (p.Arg186=)
c.504G>A (p.Arg168=)
n.694G>A
n.681G>A
20g.46725531G>CCA409267118SLC2A10c.495G>C (p.Arg165Ser)
c.558G>C (p.Arg186Ser)
c.504G>C (p.Arg168Ser)
n.694G>C
n.681G>C
20g.46725531G>TCA409267119SLC2A10c.495G>T (p.Arg165Ser)
c.558G>T (p.Arg186Ser)
c.504G>T (p.Arg168Ser)
n.694G>T
n.681G>T
20g.46725532C>ACA409267120SLC2A10c.496C>A (p.His166Asn)
c.559C>A (p.His187Asn)
c.505C>A (p.His169Asn)
n.695C>A
n.682C>A
20g.46725532C>GCA409267121SLC2A10c.496C>G (p.His166Asp)
c.559C>G (p.His187Asp)
c.505C>G (p.His169Asp)
n.695C>G
n.682C>G
20g.46725532C>TCA409267122SLC2A10c.496C>T (p.His166Tyr)
c.559C>T (p.His187Tyr)
c.505C>T (p.His169Tyr)
n.695C>T
n.682C>T
gnomAD v4
20g.46725533A>CCA409267123SLC2A10c.497A>C (p.His166Pro)
c.560A>C (p.His187Pro)
c.506A>C (p.His169Pro)
n.696A>C
n.683A>C
20g.46725533A>GCA409267124SLC2A10c.497A>G (p.His166Arg)
c.560A>G (p.His187Arg)
c.506A>G (p.His169Arg)
n.696A>G
n.683A>G
gnomAD v4
20g.46725533A>TCA409267125SLC2A10c.497A>T (p.His166Leu)
c.560A>T (p.His187Leu)
c.506A>T (p.His169Leu)
n.696A>T
n.683A>T
20g.46725534C>ACA409267126SLC2A10c.498C>A (p.His166Gln)
c.561C>A (p.His187Gln)
c.507C>A (p.His169Gln)
n.697C>A
n.684C>A
20g.46725534C>GCA409267127SLC2A10c.498C>G (p.His166Gln)
c.561C>G (p.His187Gln)
c.507C>G (p.His169Gln)
n.697C>G
n.684C>G
20g.46725534C>TCA510847683SLC2A10c.498C>T (p.His166=)
c.561C>T (p.His187=)
c.507C>T (p.His169=)
n.697C>T
n.684C>T
20g.46725535A>CCA409267128SLC2A10c.499A>C (p.Met167Leu)
c.562A>C (p.Met188Leu)
c.508A>C (p.Met170Leu)
n.698A>C
n.685A>C
20g.46725535A>GCA409267129SLC2A10c.499A>G (p.Met167Val)
c.562A>G (p.Met188Val)
c.508A>G (p.Met170Val)
n.698A>G
n.685A>G
ClinVar
20g.46725535A>TCA409267130SLC2A10c.499A>T (p.Met167Leu)
c.562A>T (p.Met188Leu)
c.508A>T (p.Met170Leu)
n.698A>T
n.685A>T
gnomAD v4
20g.46725535_46725536delinsATCA2366796245SLC2A10c.499_500delinsAT (p.Met167=)
c.562_563delinsAT (p.Met188=)
c.508_509delinsAT (p.Met170=)
n.698_699delinsAT
n.685_686delinsAT
20g.46725536delCA636177762SLC2A10c.500del (p.Met167SerfsTer?)
c.563del (p.Met188SerfsTer?)
c.509del (p.Met170SerfsTer?)
n.699del
n.686del
dbSNP gnomAD v2 gnomAD v4
20g.46725536T>ACA409267133SLC2A10c.500T>A (p.Met167Lys)
c.563T>A (p.Met188Lys)
c.509T>A (p.Met170Lys)
n.699T>A
n.686T>A
20g.46725536T>CCA409267132SLC2A10c.500T>C (p.Met167Thr)
c.563T>C (p.Met188Thr)
c.509T>C (p.Met170Thr)
n.699T>C
n.686T>C
gnomAD v4
20g.46725536T>GCA409267131SLC2A10c.500T>G (p.Met167Arg)
c.563T>G (p.Met188Arg)
c.509T>G (p.Met170Arg)
n.699T>G
n.686T>G
gnomAD v4
20g.46725537G>ACA9891987SLC2A10c.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
20g.46725537G>CCA409267134SLC2A10c.501G>C (p.Met167Ile)
c.564G>C (p.Met188Ile)
c.510G>C (p.Met170Ile)
n.700G>C
n.687G>C
20g.46725537G=CA2366796246SLC2A10c.501G= (p.Met167=)
c.564G= (p.Met188=)
c.510G= (p.Met170=)
n.700G=
n.687G=
20g.46725537G>TCA409267135SLC2A10c.501G>T (p.Met167Ile)
c.564G>T (p.Met188Ile)
c.510G>T (p.Met170Ile)
n.700G>T
n.687G>T
20g.46725538T>ACA409267136SLC2A10c.502T>A (p.Phe168Ile)
c.565T>A (p.Phe189Ile)
c.511T>A (p.Phe171Ile)
n.701T>A
n.688T>A
20g.46725538T>CCA409267137SLC2A10c.502T>C (p.Phe168Leu)
c.565T>C (p.Phe189Leu)
c.511T>C (p.Phe171Leu)
n.701T>C
n.688T>C
20g.46725538T>GCA409267138SLC2A10c.502T>G (p.Phe168Val)
c.565T>G (p.Phe189Val)
c.511T>G (p.Phe171Val)
n.701T>G
n.688T>G
20g.46725539T>ACA409267141SLC2A10c.503T>A (p.Phe168Tyr)
c.566T>A (p.Phe189Tyr)
c.512T>A (p.Phe171Tyr)
n.702T>A
n.689T>A
gnomAD v4
20g.46725539T>CCA409267140SLC2A10c.503T>C (p.Phe168Ser)
c.566T>C (p.Phe189Ser)
c.512T>C (p.Phe171Ser)
n.702T>C
n.689T>C
20g.46725539T>GCA409267139SLC2A10c.503T>G (p.Phe168Cys)
c.566T>G (p.Phe189Cys)
c.512T>G (p.Phe171Cys)
n.702T>G
n.689T>G
20g.46725540C>ACA324019SLC2A10c.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
20g.46725540C=CA2366796247SLC2A10c.504C= (p.Phe168=)
c.567C= (p.Phe189=)
c.513C= (p.Phe171=)
n.703C=
n.690C=
20g.46725540C>GCA409267142SLC2A10c.504C>G (p.Phe168Leu)
c.567C>G (p.Phe189Leu)
c.513C>G (p.Phe171Leu)
n.703C>G
n.690C>G
20g.46725540C>TCA9891988SLC2A10c.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
20g.46725541G>ACA9891989SLC2A10c.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
20g.46725541G>CCA409267143SLC2A10c.505G>C (p.Gly169Arg)
c.568G>C (p.Gly190Arg)
c.514G>C (p.Gly172Arg)
n.704G>C
n.691G>C
20g.46725541G=CA2366796248SLC2A10c.505G= (p.Gly169=)
c.568G= (p.Gly190=)
c.514G= (p.Gly172=)
n.704G=
n.691G=
20g.46725541G>TCA409267144SLC2A10c.505G>T (p.Gly169Cys)
c.568G>T (p.Gly190Cys)
c.514G>T (p.Gly172Cys)
n.704G>T
n.691G>T
gnomAD v4
20g.46725542G>ACA9891990SLC2A10c.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
20g.46725542G>CCA409267145SLC2A10c.506G>C (p.Gly169Ala)
c.569G>C (p.Gly190Ala)
c.515G>C (p.Gly172Ala)
n.705G>C
n.692G>C
ClinVar
20g.46725542G=CA2366796249SLC2A10c.506G= (p.Gly169=)
c.569G= (p.Gly190=)
c.515G= (p.Gly172=)
n.705G=
n.692G=
20g.46725542G>TCA409267146SLC2A10c.506G>T (p.Gly169Val)
c.569G>T (p.Gly190Val)
c.515G>T (p.Gly172Val)
n.705G>T
n.692G>T
gnomAD v4
20g.46725543C>ACA510847684SLC2A10c.507C>A (p.Gly169=)
c.570C>A (p.Gly190=)
c.516C>A (p.Gly172=)
n.706C>A
n.693C>A
20g.46725543C=CA2366796250SLC2A10c.507C= (p.Gly169=)
c.570C= (p.Gly190=)
c.516C= (p.Gly172=)
n.706C=
n.693C=
20g.46725543C>GCA510847685SLC2A10c.507C>G (p.Gly169=)
c.570C>G (p.Gly190=)
c.516C>G (p.Gly172=)
n.706C>G
n.693C>G
20g.46725543C>TCA9891991SLC2A10c.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
20g.46725544T>ACA409267147SLC2A10c.508T>A (p.Trp170Arg)
c.571T>A (p.Trp191Arg)
c.517T>A (p.Trp173Arg)
n.707T>A
n.694T>A
20g.46725544T>CCA409267148SLC2A10c.508T>C (p.Trp170Arg)
c.571T>C (p.Trp191Arg)
c.517T>C (p.Trp173Arg)
n.707T>C
n.694T>C
20g.46725544T>GCA409267149SLC2A10c.508T>G (p.Trp170Gly)
c.571T>G (p.Trp191Gly)
c.517T>G (p.Trp173Gly)
n.707T>G
n.694T>G
20g.46725545G>ACA409267150SLC2A10c.509G>A (p.Trp170Ter)
c.572G>A (p.Trp191Ter)
c.518G>A (p.Trp173Ter)
n.708G>A
n.695G>A
dbSNP gnomAD v2
20g.46725545G>CCA409267151SLC2A10c.509G>C (p.Trp170Ser)
c.572G>C (p.Trp191Ser)
c.518G>C (p.Trp173Ser)
n.708G>C
n.695G>C
20g.46725545G=CA2366796251SLC2A10c.509G= (p.Trp170=)
c.572G= (p.Trp191=)
c.518G= (p.Trp173=)
n.708G=
n.695G=
20g.46725545G>TCA409267152SLC2A10c.509G>T (p.Trp170Leu)
c.572G>T (p.Trp191Leu)
c.518G>T (p.Trp173Leu)
n.708G>T
n.695G>T
20g.46725546G>ACA340263SLC2A10c.510G>A (p.Trp170Ter)
c.573G>A (p.Trp191Ter)
c.519G>A (p.Trp173Ter)
n.709G>A
n.696G>A
ClinVar dbSNP
20g.46725546G>CCA409267153SLC2A10c.510G>C (p.Trp170Cys)
c.573G>C (p.Trp191Cys)
c.519G>C (p.Trp173Cys)
n.709G>C
n.696G>C
20g.46725546G=CA2366796252SLC2A10c.510G= (p.Trp170=)
c.573G= (p.Trp191=)
c.519G= (p.Trp173=)
n.709G=
n.696G=
20g.46725546G>TCA409267154SLC2A10c.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
20g.46725547G>ACA409267155SLC2A10c.511G>A (p.Ala171Thr)
c.574G>A (p.Ala192Thr)
c.520G>A (p.Ala174Thr)
n.710G>A
n.697G>A
20g.46725547G>CCA409267156SLC2A10c.511G>C (p.Ala171Pro)
c.574G>C (p.Ala192Pro)
c.520G>C (p.Ala174Pro)
n.710G>C
n.697G>C
20g.46725547G>TCA409267157SLC2A10c.511G>T (p.Ala171Ser)
c.574G>T (p.Ala192Ser)
c.520G>T (p.Ala174Ser)
n.710G>T
n.697G>T
20g.46725548C>ACA409267158SLC2A10c.512C>A (p.Ala171Asp)
c.575C>A (p.Ala192Asp)
c.521C>A (p.Ala174Asp)
n.711C>A
n.698C>A
20g.46725548C>GCA409267160SLC2A10c.512C>G (p.Ala171Gly)
c.575C>G (p.Ala192Gly)
c.521C>G (p.Ala174Gly)
n.711C>G
n.698C>G
20g.46725548C>TCA409267159SLC2A10c.512C>T (p.Ala171Val)
c.575C>T (p.Ala192Val)
c.521C>T (p.Ala174Val)
n.711C>T
n.698C>T
COSMIC
20g.46725549C>ACA510847686SLC2A10c.513C>A (p.Ala171=)
c.576C>A (p.Ala192=)
c.522C>A (p.Ala174=)
n.712C>A
n.699C>A
20g.46725549C>GCA510847687SLC2A10c.513C>G (p.Ala171=)
c.576C>G (p.Ala192=)
c.522C>G (p.Ala174=)
n.712C>G
n.699C>G
20g.46725549C>TCA510847688SLC2A10c.513C>T (p.Ala171=)
c.576C>T (p.Ala192=)
c.522C>T (p.Ala174=)
n.712C>T
n.699C>T
20g.46725550A>CCA409267161SLC2A10c.514A>C (p.Thr172Pro)
c.577A>C (p.Thr193Pro)
c.523A>C (p.Thr175Pro)
n.713A>C
n.700A>C
20g.46725550A>GCA409267162SLC2A10c.514A>G (p.Thr172Ala)
c.577A>G (p.Thr193Ala)
c.523A>G (p.Thr175Ala)
n.713A>G
n.700A>G
20g.46725550A>TCA409267163SLC2A10c.514A>T (p.Thr172Ser)
c.577A>T (p.Thr193Ser)
c.523A>T (p.Thr175Ser)
n.713A>T
n.700A>T
20g.46725551C>ACA409267164SLC2A10c.515C>A (p.Thr172Asn)
c.578C>A (p.Thr193Asn)
c.524C>A (p.Thr175Asn)
n.714C>A
n.701C>A
20g.46725551C=CA2366796253SLC2A10c.515C= (p.Thr172=)
c.578C= (p.Thr193=)
c.524C= (p.Thr175=)
n.714C=
n.701C=
20g.46725551C>GCA409267165SLC2A10c.515C>G (p.Thr172Ser)
c.578C>G (p.Thr193Ser)
c.524C>G (p.Thr175Ser)
n.714C>G
n.701C>G
20g.46725551C>TCA241805SLC2A10c.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
20g.46725552T>ACA510847689SLC2A10c.516T>A (p.Thr172=)
c.579T>A (p.Thr193=)
c.525T>A (p.Thr175=)
n.715T>A
n.702T>A
ClinVar
20g.46725552T>CCA510847690SLC2A10c.516T>C (p.Thr172=)
c.579T>C (p.Thr193=)
c.525T>C (p.Thr175=)
n.715T>C
n.702T>C
20g.46725552T>GCA510847691SLC2A10c.516T>G (p.Thr172=)
c.579T>G (p.Thr193=)
c.525T>G (p.Thr175=)
n.715T>G
n.702T>G
20g.46725553G>ACA16616241SLC2A10c.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
20g.46725553G>CCA409267166SLC2A10c.517G>C (p.Ala173Pro)
c.580G>C (p.Ala194Pro)
c.526G>C (p.Ala176Pro)
n.716G>C
n.703G>C
20g.46725553G=CA2366796254SLC2A10c.517G= (p.Ala173=)
c.580G= (p.Ala194=)
c.526G= (p.Ala176=)
n.716G=
n.703G=
20g.46725553G>TCA409267167SLC2A10c.517G>T (p.Ala173Ser)
c.580G>T (p.Ala194Ser)
c.526G>T (p.Ala176Ser)
n.716G>T
n.703G>T
20g.46725554C>ACA409267168SLC2A10c.518C>A (p.Ala173Glu)
c.581C>A (p.Ala194Glu)
c.527C>A (p.Ala176Glu)
n.717C>A
n.704C>A
20g.46725554C>GCA409267169SLC2A10c.518C>G (p.Ala173Gly)
c.581C>G (p.Ala194Gly)
c.527C>G (p.Ala176Gly)
n.717C>G
n.704C>G
20g.46725554C>TCA409267170SLC2A10c.518C>T (p.Ala173Val)
c.581C>T (p.Ala194Val)
c.527C>T (p.Ala176Val)
n.717C>T
n.704C>T
20g.46725555A=CA2366796255SLC2A10c.519A= (p.Ala173=)
c.582A= (p.Ala194=)
c.528A= (p.Ala176=)
n.718A=
n.705A=
20g.46725555A>CCA510847692SLC2A10c.519A>C (p.Ala173=)
c.582A>C (p.Ala194=)
c.528A>C (p.Ala176=)
n.718A>C
n.705A>C
20g.46725555A>GCA9891992SLC2A10c.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
20g.46725555A>TCA510847693SLC2A10c.519A>T (p.Ala173=)
c.582A>T (p.Ala194=)
c.528A>T (p.Ala176=)
n.718A>T
n.705A>T
20g.46725556C>ACA409267173SLC2A10c.520C>A (p.Pro174Thr)
c.583C>A (p.Pro195Thr)
c.529C>A (p.Pro177Thr)
n.719C>A
n.706C>A
20g.46725556C=CA2366796256SLC2A10c.520C= (p.Pro174=)
c.583C= (p.Pro195=)
c.529C= (p.Pro177=)
n.719C=
n.706C=
20g.46725556C>GCA409267171SLC2A10c.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
20g.46725556C>TCA409267172SLC2A10c.520C>T (p.Pro174Ser)
c.583C>T (p.Pro195Ser)
c.529C>T (p.Pro177Ser)
n.719C>T
n.706C>T
20g.46725557C>ACA409267174SLC2A10c.521C>A (p.Pro174His)
c.584C>A (p.Pro195His)
c.530C>A (p.Pro177His)
n.720C>A
n.707C>A
20g.46725557C>GCA409267175SLC2A10c.521C>G (p.Pro174Arg)
c.584C>G (p.Pro195Arg)
c.530C>G (p.Pro177Arg)
n.720C>G
n.707C>G
20g.46725557C>TCA409267176SLC2A10c.521C>T (p.Pro174Leu)
c.584C>T (p.Pro195Leu)
c.530C>T (p.Pro177Leu)
n.720C>T
n.707C>T
20g.46725558T>ACA510847694SLC2A10c.522T>A (p.Pro174=)
c.585T>A (p.Pro195=)
c.531T>A (p.Pro177=)
n.721T>A
n.708T>A
20g.46725558T>CCA510847695SLC2A10c.522T>C (p.Pro174=)
c.585T>C (p.Pro195=)
c.531T>C (p.Pro177=)
n.721T>C
n.708T>C
gnomAD v3 gnomAD v4
20g.46725558T>GCA510847696SLC2A10c.522T>G (p.Pro174=)
c.585T>G (p.Pro195=)
c.531T>G (p.Pro177=)
n.721T>G
n.708T>G
20g.46725559G>ACA409267177SLC2A10c.523G>A (p.Ala175Thr)
c.586G>A (p.Ala196Thr)
c.532G>A (p.Ala178Thr)
n.722G>A
n.709G>A
gnomAD v4
20g.46725559G>CCA409267178SLC2A10c.523G>C (p.Ala175Pro)
c.586G>C (p.Ala196Pro)
c.532G>C (p.Ala178Pro)
n.722G>C
n.709G>C
20g.46725559G>TCA409267179SLC2A10c.523G>T (p.Ala175Ser)
c.586G>T (p.Ala196Ser)
c.532G>T (p.Ala178Ser)
n.722G>T
n.709G>T
20g.46725560C>ACA409267180SLC2A10c.524C>A (p.Ala175Asp)
c.587C>A (p.Ala196Asp)
c.533C>A (p.Ala178Asp)
n.723C>A
n.710C>A
20g.46725560C>GCA409267181SLC2A10c.524C>G (p.Ala175Gly)
c.587C>G (p.Ala196Gly)
c.533C>G (p.Ala178Gly)
n.723C>G
n.710C>G
20g.46725560C>TCA409267182SLC2A10c.524C>T (p.Ala175Val)
c.587C>T (p.Ala196Val)
c.533C>T (p.Ala178Val)
n.723C>T
n.710C>T
20g.46725561T>ACA510847699SLC2A10c.525T>A (p.Ala175=)
c.588T>A (p.Ala196=)
c.534T>A (p.Ala178=)
n.724T>A
n.711T>A
gnomAD v4
20g.46725561T>CCA510847698SLC2A10c.525T>C (p.Ala175=)
c.588T>C (p.Ala196=)
c.534T>C (p.Ala178=)
n.724T>C
n.711T>C
20g.46725561T>GCA510847697SLC2A10c.525T>G (p.Ala175=)
c.588T>G (p.Ala196=)
c.534T>G (p.Ala178=)
n.724T>G
n.711T>G
20g.46725562delCA2653170833SLC2A10c.526del (p.Val176SerfsTer?)
c.589del (p.Val197SerfsTer?)
c.535del (p.Val179SerfsTer?)
n.725del
n.712del
gnomAD v4
20g.46725562G>ACA9891993SLC2A10c.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
20g.46725562G>CCA409267183SLC2A10c.526G>C (p.Val176Leu)
c.589G>C (p.Val197Leu)
c.535G>C (p.Val179Leu)
n.725G>C
n.712G>C
ClinVar
20g.46725562G=CA2366796257SLC2A10c.526G= (p.Val176=)
c.589G= (p.Val197=)
c.535G= (p.Val179=)
n.725G=
n.712G=
20g.46725562G>TCA409267184SLC2A10c.526G>T (p.Val176Phe)
c.589G>T (p.Val197Phe)
c.535G>T (p.Val179Phe)
n.725G>T
n.712G>T
20g.46725563T>ACA409267186SLC2A10c.527T>A (p.Val176Asp)
c.590T>A (p.Val197Asp)
c.536T>A (p.Val179Asp)
n.726T>A
n.713T>A
20g.46725563T>CCA409267187SLC2A10c.527T>C (p.Val176Ala)
c.590T>C (p.Val197Ala)
c.536T>C (p.Val179Ala)
n.726T>C
n.713T>C
20g.46725563T>GCA409267185SLC2A10c.527T>G (p.Val176Gly)
c.590T>G (p.Val197Gly)
c.536T>G (p.Val179Gly)
n.726T>G
n.713T>G
20g.46725564C>ACA510847700SLC2A10c.528C>A (p.Val176=)
c.591C>A (p.Val197=)
c.537C>A (p.Val179=)
n.727C>A
n.714C>A
20g.46725564C>GCA510847701SLC2A10c.528C>G (p.Val176=)
c.591C>G (p.Val197=)
c.537C>G (p.Val179=)
n.727C>G
n.714C>G
20g.46725564C>TCA510847702SLC2A10c.528C>T (p.Val176=)
c.591C>T (p.Val197=)
c.537C>T (p.Val179=)
n.727C>T
n.714C>T
20g.46725565C>ACA409267188SLC2A10c.529C>A (p.Leu177Met)
c.592C>A (p.Leu198Met)
c.538C>A (p.Leu180Met)
n.728C>A
n.715C>A
20g.46725565C>GCA409267189SLC2A10c.529C>G (p.Leu177Val)
c.592C>G (p.Leu198Val)
c.538C>G (p.Leu180Val)
n.728C>G
n.715C>G
gnomAD v4
20g.46725565C>TCA510847703SLC2A10c.529C>T (p.Leu177=)
c.592C>T (p.Leu198=)
c.538C>T (p.Leu180=)
n.728C>T
n.715C>T
gnomAD v4
20g.46725566T>ACA409267190SLC2A10c.530T>A (p.Leu177Gln)
c.593T>A (p.Leu198Gln)
c.539T>A (p.Leu180Gln)
n.729T>A
n.716T>A
20g.46725566T>CCA9891994SLC2A10c.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
20g.46725566T>GCA409267191SLC2A10c.530T>G (p.Leu177Arg)
c.593T>G (p.Leu198Arg)
c.539T>G (p.Leu180Arg)
n.729T>G
n.716T>G
20g.46725566T=CA2366796258SLC2A10c.530T= (p.Leu177=)
c.593T= (p.Leu198=)
c.539T= (p.Leu180=)
n.729T=
n.716T=
20g.46725567G>ACA9891995SLC2A10c.531G>A (p.Leu177=)
c.594G>A (p.Leu198=)
c.540G>A (p.Leu180=)
n.730G>A
n.717G>A
dbSNP ExAC
20g.46725567G>CCA510847705SLC2A10c.531G>C (p.Leu177=)
c.594G>C (p.Leu198=)
c.540G>C (p.Leu180=)
n.730G>C
n.717G>C
20g.46725567G=CA2366796259SLC2A10c.531G= (p.Leu177=)
c.594G= (p.Leu198=)
c.540G= (p.Leu180=)
n.730G=
n.717G=
20g.46725567G>TCA510847704SLC2A10c.531G>T (p.Leu177=)
c.594G>T (p.Leu198=)
c.540G>T (p.Leu180=)
n.730G>T
n.717G>T

Number of alleles fetched