Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.87976369A>C | CA487366214 | GALC | c.741T>G (p.Val247=) c.672T>G (p.Val224=) c.663T>G (p.Val221=) n.731T>G n.496T>G c.573T>G (p.Val191=) n.620T>G c.108T>G (p.Val36=) c.*139T>G (n.*139T>G) c.731T>G | |
14 | g.87976369A>G | CA487366215 | GALC | c.741T>C (p.Val247=) c.672T>C (p.Val224=) c.663T>C (p.Val221=) n.731T>C n.496T>C c.573T>C (p.Val191=) n.620T>C c.108T>C (p.Val36=) c.*139T>C (n.*139T>C) c.731T>C | |
14 | g.87976369A>T | CA487366216 | GALC | c.741T>A (p.Val247=) c.672T>A (p.Val224=) c.663T>A (p.Val221=) n.731T>A n.496T>A c.573T>A (p.Val191=) n.620T>A c.108T>A (p.Val36=) c.*139T>A (n.*139T>A) c.731T>A | |
14 | g.87976370A>C | CA390749286 | GALC | c.740T>G (p.Val247Gly) c.671T>G (p.Val224Gly) c.662T>G (p.Val221Gly) n.730T>G n.495T>G c.572T>G (p.Val191Gly) n.619T>G c.107T>G (p.Val36Gly) c.*138T>G (n.*138T>G) c.730T>G | |
14 | g.87976370A>G | CA390749288 | GALC | c.740T>C (p.Val247Ala) c.671T>C (p.Val224Ala) c.662T>C (p.Val221Ala) n.730T>C n.495T>C c.572T>C (p.Val191Ala) n.619T>C c.107T>C (p.Val36Ala) c.*138T>C (n.*138T>C) c.730T>C | |
14 | g.87976370A>T | CA390749289 | GALC | c.740T>A (p.Val247Asp) c.671T>A (p.Val224Asp) c.662T>A (p.Val221Asp) n.730T>A n.495T>A c.572T>A (p.Val191Asp) n.619T>A c.107T>A (p.Val36Asp) c.*138T>A (n.*138T>A) c.730T>A | |
14 | g.87976371C>A | CA390749292 | GALC | c.739G>T (p.Val247Phe) c.670G>T (p.Val224Phe) c.661G>T (p.Val221Phe) n.729G>T n.494G>T c.571G>T (p.Val191Phe) n.618G>T c.106G>T (p.Val36Phe) c.*137G>T (n.*137G>T) c.729G>T | ClinVar dbSNP |
14 | g.87976371C>G | CA390749293 | GALC | c.739G>C (p.Val247Leu) c.670G>C (p.Val224Leu) c.661G>C (p.Val221Leu) n.729G>C n.494G>C c.571G>C (p.Val191Leu) n.618G>C c.106G>C (p.Val36Leu) c.*137G>C (n.*137G>C) c.729G>C | |
14 | g.87976371C>T | CA390749294 | GALC | c.739G>A (p.Val247Ile) c.670G>A (p.Val224Ile) c.661G>A (p.Val221Ile) n.729G>A n.494G>A c.571G>A (p.Val191Ile) n.618G>A c.106G>A (p.Val36Ile) c.*137G>A (n.*137G>A) c.729G>A | |
14 | g.87976372C>A | CA487366219 | GALC | c.738G>T (p.Val246=) c.669G>T (p.Val223=) c.660G>T (p.Val220=) n.728G>T n.493G>T c.570G>T (p.Val190=) n.617G>T c.105G>T (p.Val35=) c.*136G>T (n.*136G>T) c.728G>T | |
14 | g.87976372C= | CA2153381755 | GALC | c.738G= (p.Val246=) c.669G= (p.Val223=) c.660G= (p.Val220=) n.728G= n.493G= c.570G= (p.Val190=) n.617G= c.105G= (p.Val35=) c.*136G= (n.*136G=) c.728G= | |
14 | g.87976372C>G | CA487366220 | GALC | c.738G>C (p.Val246=) c.669G>C (p.Val223=) c.660G>C (p.Val220=) n.728G>C n.493G>C c.570G>C (p.Val190=) n.617G>C c.105G>C (p.Val35=) c.*136G>C (n.*136G>C) c.728G>C | |
14 | g.87976372C>T | CA487366221 | GALC | c.738G>A (p.Val246=) c.669G>A (p.Val223=) c.660G>A (p.Val220=) n.728G>A n.493G>A c.570G>A (p.Val190=) n.617G>A c.105G>A (p.Val35=) c.*136G>A (n.*136G>A) c.728G>A | dbSNP |
14 | g.87976373A= | CA2153381756 | GALC | c.737T= (p.Val246=) c.668T= (p.Val223=) c.659T= (p.Val220=) n.727T= n.492T= c.569T= (p.Val190=) n.616T= c.104T= (p.Val35=) c.*135T= (n.*135T=) c.727T= | |
14 | g.87976373A>C | CA390749299 | GALC | c.737T>G (p.Val246Gly) c.668T>G (p.Val223Gly) c.659T>G (p.Val220Gly) n.727T>G n.492T>G c.569T>G (p.Val190Gly) n.616T>G c.104T>G (p.Val35Gly) c.*135T>G (n.*135T>G) c.727T>G | |
14 | g.87976373A>G | CA390749300 | GALC | c.737T>C (p.Val246Ala) c.668T>C (p.Val223Ala) c.659T>C (p.Val220Ala) n.727T>C n.492T>C c.569T>C (p.Val190Ala) n.616T>C c.104T>C (p.Val35Ala) c.*135T>C (n.*135T>C) c.727T>C | |
14 | g.87976373A>T | CA390749297 | GALC | c.737T>A (p.Val246Glu) c.668T>A (p.Val223Glu) c.659T>A (p.Val220Glu) n.727T>A n.492T>A c.569T>A (p.Val190Glu) n.616T>A c.104T>A (p.Val35Glu) c.*135T>A (n.*135T>A) c.727T>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.87976374C>A | CA390749302 | GALC | c.736G>T (p.Val246Leu) c.667G>T (p.Val223Leu) c.658G>T (p.Val220Leu) n.726G>T n.491G>T c.568G>T (p.Val190Leu) n.615G>T c.103G>T (p.Val35Leu) c.*134G>T (n.*134G>T) c.726G>T | |
14 | g.87976374C>G | CA390749303 | GALC | c.736G>C (p.Val246Leu) c.667G>C (p.Val223Leu) c.658G>C (p.Val220Leu) n.726G>C n.491G>C c.568G>C (p.Val190Leu) n.615G>C c.103G>C (p.Val35Leu) c.*134G>C (n.*134G>C) c.726G>C | |
14 | g.87976374C>T | CA390749305 | GALC | c.736G>A (p.Val246Met) c.667G>A (p.Val223Met) c.658G>A (p.Val220Met) n.726G>A n.491G>A c.568G>A (p.Val190Met) n.615G>A c.103G>A (p.Val35Met) c.*134G>A (n.*134G>A) c.726G>A | |
14 | g.87976375C>A | CA390749307 | GALC | c.735G>T (p.Lys245Asn) c.666G>T (p.Lys222Asn) c.657G>T (p.Lys219Asn) n.725G>T n.490G>T c.567G>T (p.Lys189Asn) n.614G>T c.102G>T (p.Lys34Asn) c.*133G>T (n.*133G>T) c.725G>T | |
14 | g.87976375C>G | CA390749309 | GALC | c.735G>C (p.Lys245Asn) c.666G>C (p.Lys222Asn) c.657G>C (p.Lys219Asn) n.725G>C n.490G>C c.567G>C (p.Lys189Asn) n.614G>C c.102G>C (p.Lys34Asn) c.*133G>C (n.*133G>C) c.725G>C | |
14 | g.87976375C>T | CA487366222 | GALC | c.735G>A (p.Lys245=) c.666G>A (p.Lys222=) c.657G>A (p.Lys219=) n.725G>A n.490G>A c.567G>A (p.Lys189=) n.614G>A c.102G>A (p.Lys34=) c.*133G>A (n.*133G>A) c.725G>A | |
14 | g.87976376T>A | CA390749313 | GALC | c.734A>T (p.Lys245Met) c.665A>T (p.Lys222Met) c.656A>T (p.Lys219Met) n.724A>T n.489A>T c.566A>T (p.Lys189Met) n.613A>T c.101A>T (p.Lys34Met) c.*132A>T (n.*132A>T) c.724A>T | |
14 | g.87976376T>C | CA7297267 | GALC | c.734A>G (p.Lys245Arg) c.665A>G (p.Lys222Arg) c.656A>G (p.Lys219Arg) n.724A>G n.489A>G c.566A>G (p.Lys189Arg) n.613A>G c.101A>G (p.Lys34Arg) c.*132A>G (n.*132A>G) c.724A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.87976376T>G | CA390749311 | GALC | c.734A>C (p.Lys245Thr) c.665A>C (p.Lys222Thr) c.656A>C (p.Lys219Thr) n.724A>C n.489A>C c.566A>C (p.Lys189Thr) n.613A>C c.101A>C (p.Lys34Thr) c.*132A>C (n.*132A>C) c.724A>C | |
14 | g.87976376T= | CA2153381757 | GALC | c.734A= (p.Lys245=) c.665A= (p.Lys222=) c.656A= (p.Lys219=) n.724A= n.489A= c.566A= (p.Lys189=) n.613A= c.101A= (p.Lys34=) c.*132A= (n.*132A=) c.724A= | |
14 | g.87976377T>A | CA390749315 | GALC | c.733A>T (p.Lys245Ter) c.664A>T (p.Lys222Ter) c.655A>T (p.Lys219Ter) n.723A>T n.488A>T c.565A>T (p.Lys189Ter) n.612A>T c.100A>T (p.Lys34Ter) c.*131A>T (n.*131A>T) c.723A>T | |
14 | g.87976377T>C | CA390749317 | GALC | c.733A>G (p.Lys245Glu) c.664A>G (p.Lys222Glu) c.655A>G (p.Lys219Glu) n.723A>G n.488A>G c.565A>G (p.Lys189Glu) n.612A>G c.100A>G (p.Lys34Glu) c.*131A>G (n.*131A>G) c.723A>G | gnomAD v4 |
14 | g.87976377T>G | CA390749318 | GALC | c.733A>C (p.Lys245Gln) c.664A>C (p.Lys222Gln) c.655A>C (p.Lys219Gln) n.723A>C n.488A>C c.565A>C (p.Lys189Gln) n.612A>C c.100A>C (p.Lys34Gln) c.*131A>C (n.*131A>C) c.723A>C | |
14 | g.87976378G>A | CA487366226 | GALC | c.732C>T (p.Phe244=) c.663C>T (p.Phe221=) c.654C>T (p.Phe218=) n.722C>T n.487C>T c.564C>T (p.Phe188=) n.611C>T c.99C>T (p.Phe33=) c.*130C>T (n.*130C>T) c.722C>T | |
14 | g.87976378G>C | CA390749321 | GALC | c.732C>G (p.Phe244Leu) c.663C>G (p.Phe221Leu) c.654C>G (p.Phe218Leu) n.722C>G n.487C>G c.564C>G (p.Phe188Leu) n.611C>G c.99C>G (p.Phe33Leu) c.*130C>G (n.*130C>G) c.722C>G | |
14 | g.87976378G>T | CA390749322 | GALC | c.732C>A (p.Phe244Leu) c.663C>A (p.Phe221Leu) c.654C>A (p.Phe218Leu) n.722C>A n.487C>A c.564C>A (p.Phe188Leu) n.611C>A c.99C>A (p.Phe33Leu) c.*130C>A (n.*130C>A) c.722C>A | |
14 | g.87976379A>C | CA390749324 | GALC | c.731T>G (p.Phe244Cys) c.662T>G (p.Phe221Cys) c.653T>G (p.Phe218Cys) n.721T>G n.486T>G c.563T>G (p.Phe188Cys) n.610T>G c.98T>G (p.Phe33Cys) c.*129T>G (n.*129T>G) c.721T>G | |
14 | g.87976379A>G | CA390749328 | GALC | c.731T>C (p.Phe244Ser) c.662T>C (p.Phe221Ser) c.653T>C (p.Phe218Ser) n.721T>C n.486T>C c.563T>C (p.Phe188Ser) n.610T>C c.98T>C (p.Phe33Ser) c.*129T>C (n.*129T>C) c.721T>C | |
14 | g.87976379A>T | CA390749326 | GALC | c.731T>A (p.Phe244Tyr) c.662T>A (p.Phe221Tyr) c.653T>A (p.Phe218Tyr) n.721T>A n.486T>A c.563T>A (p.Phe188Tyr) n.610T>A c.98T>A (p.Phe33Tyr) c.*129T>A (n.*129T>A) c.721T>A | |
14 | g.87976380A>C | CA390749334 | GALC | c.730T>G (p.Phe244Val) c.661T>G (p.Phe221Val) c.652T>G (p.Phe218Val) n.720T>G n.485T>G c.562T>G (p.Phe188Val) n.609T>G c.97T>G (p.Phe33Val) c.*128T>G (n.*128T>G) c.720T>G | |
14 | g.87976380A>G | CA390749336 | GALC | c.730T>C (p.Phe244Leu) c.661T>C (p.Phe221Leu) c.652T>C (p.Phe218Leu) n.720T>C n.485T>C c.562T>C (p.Phe188Leu) n.609T>C c.97T>C (p.Phe33Leu) c.*128T>C (n.*128T>C) c.720T>C | gnomAD v4 |
14 | g.87976380A>T | CA390749337 | GALC | c.730T>A (p.Phe244Ile) c.661T>A (p.Phe221Ile) c.652T>A (p.Phe218Ile) n.720T>A n.485T>A c.562T>A (p.Phe188Ile) n.609T>A c.97T>A (p.Phe33Ile) c.*128T>A (n.*128T>A) c.720T>A | |
14 | g.87976381G>A | CA487366227 | GALC | c.729C>T (p.Leu243=) c.660C>T (p.Leu220=) c.651C>T (p.Leu217=) n.719C>T n.484C>T c.561C>T (p.Leu187=) n.608C>T c.96C>T (p.Leu32=) c.*127C>T (n.*127C>T) c.719C>T | gnomAD v4 |
14 | g.87976381G>C | CA487366230 | GALC | c.729C>G (p.Leu243=) c.660C>G (p.Leu220=) c.651C>G (p.Leu217=) n.719C>G n.484C>G c.561C>G (p.Leu187=) n.608C>G c.96C>G (p.Leu32=) c.*127C>G (n.*127C>G) c.719C>G | dbSNP |
14 | g.87976381G>T | CA487366229 | GALC | c.729C>A (p.Leu243=) c.660C>A (p.Leu220=) c.651C>A (p.Leu217=) n.719C>A n.484C>A c.561C>A (p.Leu187=) n.608C>A c.96C>A (p.Leu32=) c.*127C>A (n.*127C>A) c.719C>A | |
14 | g.87976382A>C | CA390749338 | GALC | c.728T>G (p.Leu243Arg) c.659T>G (p.Leu220Arg) c.650T>G (p.Leu217Arg) n.718T>G n.483T>G c.560T>G (p.Leu187Arg) n.607T>G c.95T>G (p.Leu32Arg) c.*126T>G (n.*126T>G) c.718T>G | |
14 | g.87976382A>G | CA390749340 | GALC | c.728T>C (p.Leu243Pro) c.659T>C (p.Leu220Pro) c.650T>C (p.Leu217Pro) n.718T>C n.483T>C c.560T>C (p.Leu187Pro) n.607T>C c.95T>C (p.Leu32Pro) c.*126T>C (n.*126T>C) c.718T>C | |
14 | g.87976382A>T | CA390749342 | GALC | c.728T>A (p.Leu243His) c.659T>A (p.Leu220His) c.650T>A (p.Leu217His) n.718T>A n.483T>A c.560T>A (p.Leu187His) n.607T>A c.95T>A (p.Leu32His) c.*126T>A (n.*126T>A) c.718T>A | |
14 | g.87976383G>A | CA390749349 | GALC | c.727C>T (p.Leu243Phe) c.658C>T (p.Leu220Phe) c.649C>T (p.Leu217Phe) n.717C>T n.482C>T c.559C>T (p.Leu187Phe) n.606C>T c.94C>T (p.Leu32Phe) c.*125C>T (n.*125C>T) c.717C>T | gnomAD v4 |
14 | g.87976383G>C | CA390749345 | GALC | c.727C>G (p.Leu243Val) c.658C>G (p.Leu220Val) c.649C>G (p.Leu217Val) n.717C>G n.482C>G c.559C>G (p.Leu187Val) n.606C>G c.94C>G (p.Leu32Val) c.*125C>G (n.*125C>G) c.717C>G | |
14 | g.87976383G>T | CA390749347 | GALC | c.727C>A (p.Leu243Ile) c.658C>A (p.Leu220Ile) c.649C>A (p.Leu217Ile) n.717C>A n.482C>A c.559C>A (p.Leu187Ile) n.606C>A c.94C>A (p.Leu32Ile) c.*125C>A (n.*125C>A) c.717C>A | gnomAD v4 |
14 | g.87976384T>A | CA390749351 | GALC | c.726A>T (p.Glu242Asp) c.657A>T (p.Glu219Asp) c.648A>T (p.Glu216Asp) n.716A>T n.481A>T c.558A>T (p.Glu186Asp) n.605A>T c.93A>T (p.Glu31Asp) c.*124A>T (n.*124A>T) c.716A>T | |
14 | g.87976384T>C | CA487366233 | GALC | c.726A>G (p.Glu242=) c.657A>G (p.Glu219=) c.648A>G (p.Glu216=) n.716A>G n.481A>G c.558A>G (p.Glu186=) n.605A>G c.93A>G (p.Glu31=) c.*124A>G (n.*124A>G) c.716A>G | |
14 | g.87976384T>G | CA390749353 | GALC | c.726A>C (p.Glu242Asp) c.657A>C (p.Glu219Asp) c.648A>C (p.Glu216Asp) n.716A>C n.481A>C c.558A>C (p.Glu186Asp) n.605A>C c.93A>C (p.Glu31Asp) c.*124A>C (n.*124A>C) c.716A>C | |
14 | g.87976385T>A | CA390749355 | GALC | c.725A>T (p.Glu242Val) c.656A>T (p.Glu219Val) c.647A>T (p.Glu216Val) n.715A>T n.480A>T c.557A>T (p.Glu186Val) n.604A>T c.92A>T (p.Glu31Val) c.*123A>T (n.*123A>T) c.715A>T | gnomAD v4 |
14 | g.87976385T>C | CA390749356 | GALC | c.725A>G (p.Glu242Gly) c.656A>G (p.Glu219Gly) c.647A>G (p.Glu216Gly) n.715A>G n.480A>G c.557A>G (p.Glu186Gly) n.604A>G c.92A>G (p.Glu31Gly) c.*123A>G (n.*123A>G) c.715A>G | |
14 | g.87976385T>G | CA390749362 | GALC | c.725A>C (p.Glu242Ala) c.656A>C (p.Glu219Ala) c.647A>C (p.Glu216Ala) n.715A>C n.480A>C c.557A>C (p.Glu186Ala) n.604A>C c.92A>C (p.Glu31Ala) c.*123A>C (n.*123A>C) c.715A>C | |
14 | g.87976386C>A | CA390749368 | GALC | c.724G>T (p.Glu242Ter) c.655G>T (p.Glu219Ter) c.646G>T (p.Glu216Ter) n.714G>T n.479G>T c.556G>T (p.Glu186Ter) n.603G>T c.91G>T (p.Glu31Ter) c.*122G>T (n.*122G>T) c.714G>T | COSMIC COSMIC |
14 | g.87976386C= | CA2153381758 | GALC | c.724G= (p.Glu242=) c.655G= (p.Glu219=) c.646G= (p.Glu216=) n.714G= n.479G= c.556G= (p.Glu186=) n.603G= c.91G= (p.Glu31=) c.*122G= (n.*122G=) c.714G= | |
14 | g.87976386C>G | CA390749365 | GALC | c.724G>C (p.Glu242Gln) c.655G>C (p.Glu219Gln) c.646G>C (p.Glu216Gln) n.714G>C n.479G>C c.556G>C (p.Glu186Gln) n.603G>C c.91G>C (p.Glu31Gln) c.*122G>C (n.*122G>C) c.714G>C | gnomAD v4 |
14 | g.87976386C>T | CA264708280 | GALC | c.724G>A (p.Glu242Lys) c.655G>A (p.Glu219Lys) c.646G>A (p.Glu216Lys) n.714G>A n.479G>A c.556G>A (p.Glu186Lys) n.603G>A c.91G>A (p.Glu31Lys) c.*122G>A (n.*122G>A) c.714G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.87976387G>A | CA7297268 | GALC | c.723C>T (p.Ala241=) c.654C>T (p.Ala218=) c.645C>T (p.Ala215=) n.713C>T n.478C>T c.555C>T (p.Ala185=) n.602C>T c.90C>T (p.Ala30=) c.*121C>T (n.*121C>T) c.713C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87976387G>C | CA487366235 | GALC | c.723C>G (p.Ala241=) c.654C>G (p.Ala218=) c.645C>G (p.Ala215=) n.713C>G n.478C>G c.555C>G (p.Ala185=) n.602C>G c.90C>G (p.Ala30=) c.*121C>G (n.*121C>G) c.713C>G | dbSNP gnomAD v4 |
14 | g.87976387G= | CA2153381759 | GALC | c.723C= (p.Ala241=) c.654C= (p.Ala218=) c.645C= (p.Ala215=) n.713C= n.478C= c.555C= (p.Ala185=) n.602C= c.90C= (p.Ala30=) c.*121C= (n.*121C=) c.713C= | |
14 | g.87976387G>T | CA487366236 | GALC | c.723C>A (p.Ala241=) c.654C>A (p.Ala218=) c.645C>A (p.Ala215=) n.713C>A n.478C>A c.555C>A (p.Ala185=) n.602C>A c.90C>A (p.Ala30=) c.*121C>A (n.*121C>A) c.713C>A | |
14 | g.87976388G>A | CA390749374 | GALC | c.722C>T (p.Ala241Val) c.653C>T (p.Ala218Val) c.644C>T (p.Ala215Val) n.712C>T n.477C>T c.554C>T (p.Ala185Val) n.601C>T c.89C>T (p.Ala30Val) c.*120C>T (n.*120C>T) c.712C>T | |
14 | g.87976388G>C | CA390749375 | GALC | c.722C>G (p.Ala241Gly) c.653C>G (p.Ala218Gly) c.644C>G (p.Ala215Gly) n.712C>G n.477C>G c.554C>G (p.Ala185Gly) n.601C>G c.89C>G (p.Ala30Gly) c.*120C>G (n.*120C>G) c.712C>G | dbSNP gnomAD v4 |
14 | g.87976388G= | CA2153381760 | GALC | c.722C= (p.Ala241=) c.653C= (p.Ala218=) c.644C= (p.Ala215=) n.712C= n.477C= c.554C= (p.Ala185=) n.601C= c.89C= (p.Ala30=) c.*120C= (n.*120C=) c.712C= | |
14 | g.87976388G>T | CA390749377 | GALC | c.722C>A (p.Ala241Asp) c.653C>A (p.Ala218Asp) c.644C>A (p.Ala215Asp) n.712C>A n.477C>A c.554C>A (p.Ala185Asp) n.601C>A c.89C>A (p.Ala30Asp) c.*120C>A (n.*120C>A) c.712C>A | |
14 | g.87976389C>A | CA390749379 | GALC | c.721G>T (p.Ala241Ser) c.652G>T (p.Ala218Ser) c.643G>T (p.Ala215Ser) n.711G>T n.476G>T c.553G>T (p.Ala185Ser) n.600G>T c.88G>T (p.Ala30Ser) c.*119G>T (n.*119G>T) c.711G>T | |
14 | g.87976389C>G | CA390749380 | GALC | c.721G>C (p.Ala241Pro) c.652G>C (p.Ala218Pro) c.643G>C (p.Ala215Pro) n.711G>C n.476G>C c.553G>C (p.Ala185Pro) n.600G>C c.88G>C (p.Ala30Pro) c.*119G>C (n.*119G>C) c.711G>C | |
14 | g.87976389C>T | CA390749382 | GALC | c.721G>A (p.Ala241Thr) c.652G>A (p.Ala218Thr) c.643G>A (p.Ala215Thr) n.711G>A n.476G>A c.553G>A (p.Ala185Thr) n.600G>A c.88G>A (p.Ala30Thr) c.*119G>A (n.*119G>A) c.711G>A | |
14 | g.87976390A>C | CA390749383 | GALC | c.720T>G (p.Asp240Glu) c.651T>G (p.Asp217Glu) c.642T>G (p.Asp214Glu) n.710T>G n.475T>G c.552T>G (p.Asp184Glu) n.599T>G c.87T>G (p.Asp29Glu) c.*118T>G (n.*118T>G) c.710T>G | |
14 | g.87976390A>G | CA487366237 | GALC | c.720T>C (p.Asp240=) c.651T>C (p.Asp217=) c.642T>C (p.Asp214=) n.710T>C n.475T>C c.552T>C (p.Asp184=) n.599T>C c.87T>C (p.Asp29=) c.*118T>C (n.*118T>C) c.710T>C | |
14 | g.87976390A>T | CA390749385 | GALC | c.720T>A (p.Asp240Glu) c.651T>A (p.Asp217Glu) c.642T>A (p.Asp214Glu) n.710T>A n.475T>A c.552T>A (p.Asp184Glu) n.599T>A c.87T>A (p.Asp29Glu) c.*118T>A (n.*118T>A) c.710T>A | |
14 | g.87976391T>A | CA390749387 | GALC | c.719A>T (p.Asp240Val) c.650A>T (p.Asp217Val) c.641A>T (p.Asp214Val) n.709A>T n.474A>T c.551A>T (p.Asp184Val) n.598A>T c.86A>T (p.Asp29Val) c.*117A>T (n.*117A>T) c.709A>T | |
14 | g.87976391T>C | CA390749389 | GALC | c.719A>G (p.Asp240Gly) c.650A>G (p.Asp217Gly) c.641A>G (p.Asp214Gly) n.709A>G n.474A>G c.551A>G (p.Asp184Gly) n.598A>G c.86A>G (p.Asp29Gly) c.*117A>G (n.*117A>G) c.709A>G | ClinVar |
14 | g.87976391T>G | CA390749390 | GALC | c.719A>C (p.Asp240Ala) c.650A>C (p.Asp217Ala) c.641A>C (p.Asp214Ala) n.709A>C n.474A>C c.551A>C (p.Asp184Ala) n.598A>C c.86A>C (p.Asp29Ala) c.*117A>C (n.*117A>C) c.709A>C | |
14 | g.87976392C>A | CA390749391 | GALC | c.718G>T (p.Asp240Tyr) c.649G>T (p.Asp217Tyr) c.640G>T (p.Asp214Tyr) n.708G>T n.473G>T c.550G>T (p.Asp184Tyr) n.597G>T c.85G>T (p.Asp29Tyr) c.*116G>T (n.*116G>T) c.708G>T | |
14 | g.87976392C>G | CA390749395 | GALC | c.718G>C (p.Asp240His) c.649G>C (p.Asp217His) c.640G>C (p.Asp214His) n.708G>C n.473G>C c.550G>C (p.Asp184His) n.597G>C c.85G>C (p.Asp29His) c.*116G>C (n.*116G>C) c.708G>C | |
14 | g.87976392C>T | CA390749393 | GALC | c.718G>A (p.Asp240Asn) c.649G>A (p.Asp217Asn) c.640G>A (p.Asp214Asn) n.708G>A n.473G>A c.550G>A (p.Asp184Asn) n.597G>A c.85G>A (p.Asp29Asn) c.*116G>A (n.*116G>A) c.708G>A | ClinVar dbSNP |
14 | g.87976393A>C | CA487366240 | GALC | c.717T>G (p.Leu239=) c.648T>G (p.Leu216=) c.639T>G (p.Leu213=) n.707T>G n.472T>G c.549T>G (p.Leu183=) n.596T>G c.84T>G (p.Leu28=) c.*115T>G (n.*115T>G) c.707T>G | COSMIC COSMIC |
14 | g.87976393A>G | CA487366242 | GALC | c.717T>C (p.Leu239=) c.648T>C (p.Leu216=) c.639T>C (p.Leu213=) n.707T>C n.472T>C c.549T>C (p.Leu183=) n.596T>C c.84T>C (p.Leu28=) c.*115T>C (n.*115T>C) c.707T>C | |
14 | g.87976393A>T | CA487366241 | GALC | c.717T>A (p.Leu239=) c.648T>A (p.Leu216=) c.639T>A (p.Leu213=) n.707T>A n.472T>A c.549T>A (p.Leu183=) n.596T>A c.84T>A (p.Leu28=) c.*115T>A (n.*115T>A) c.707T>A | |
14 | g.87976394A= | CA2153381761 | GALC | c.716T= (p.Leu239=) c.647T= (p.Leu216=) c.638T= (p.Leu213=) n.706T= n.471T= c.548T= (p.Leu183=) n.595T= c.83T= (p.Leu28=) c.*114T= (n.*114T=) c.706T= | |
14 | g.87976394A>C | CA390749398 | GALC | c.716T>G (p.Leu239Arg) c.647T>G (p.Leu216Arg) c.638T>G (p.Leu213Arg) n.706T>G n.471T>G c.548T>G (p.Leu183Arg) n.595T>G c.83T>G (p.Leu28Arg) c.*114T>G (n.*114T>G) c.706T>G | |
14 | g.87976394A>G | CA390749400 | GALC | c.716T>C (p.Leu239Pro) c.647T>C (p.Leu216Pro) c.638T>C (p.Leu213Pro) n.706T>C n.471T>C c.548T>C (p.Leu183Pro) n.595T>C c.83T>C (p.Leu28Pro) c.*114T>C (n.*114T>C) c.706T>C | dbSNP gnomAD v4 |
14 | g.87976394A>T | CA390749401 | GALC | c.716T>A (p.Leu239His) c.647T>A (p.Leu216His) c.638T>A (p.Leu213His) n.706T>A n.471T>A c.548T>A (p.Leu183His) n.595T>A c.83T>A (p.Leu28His) c.*114T>A (n.*114T>A) c.706T>A | |
14 | g.87976395G>A | CA390749404 | GALC | c.715C>T (p.Leu239Phe) c.646C>T (p.Leu216Phe) c.637C>T (p.Leu213Phe) n.705C>T n.470C>T c.547C>T (p.Leu183Phe) n.594C>T c.82C>T (p.Leu28Phe) c.*113C>T (n.*113C>T) c.705C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87976395G>C | CA390749406 | GALC | c.715C>G (p.Leu239Val) c.646C>G (p.Leu216Val) c.637C>G (p.Leu213Val) n.705C>G n.470C>G c.547C>G (p.Leu183Val) n.594C>G c.82C>G (p.Leu28Val) c.*113C>G (n.*113C>G) c.705C>G | gnomAD v4 |
14 | g.87976395G= | CA2153381762 | GALC | c.715C= (p.Leu239=) c.646C= (p.Leu216=) c.637C= (p.Leu213=) n.705C= n.470C= c.547C= (p.Leu183=) n.594C= c.82C= (p.Leu28=) c.*113C= (n.*113C=) c.705C= | |
14 | g.87976395G>T | CA390749408 | GALC | c.715C>A (p.Leu239Ile) c.646C>A (p.Leu216Ile) c.637C>A (p.Leu213Ile) n.705C>A n.470C>A c.547C>A (p.Leu183Ile) n.594C>A c.82C>A (p.Leu28Ile) c.*113C>A (n.*113C>A) c.705C>A | |
14 | g.87976396G>A | CA7297269 | GALC | c.714C>T (p.Leu238=) c.645C>T (p.Leu215=) c.636C>T (p.Leu212=) n.704C>T n.469C>T c.546C>T (p.Leu182=) n.593C>T c.81C>T (p.Leu27=) c.*112C>T (n.*112C>T) c.704C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87976396G>C | CA7297270 | GALC | c.714C>G (p.Leu238=) c.645C>G (p.Leu215=) c.636C>G (p.Leu212=) n.704C>G n.469C>G c.546C>G (p.Leu182=) n.593C>G c.81C>G (p.Leu27=) c.*112C>G (n.*112C>G) c.704C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.87976396G= | CA2153381763 | GALC | c.714C= (p.Leu238=) c.645C= (p.Leu215=) c.636C= (p.Leu212=) n.704C= n.469C= c.546C= (p.Leu182=) n.593C= c.81C= (p.Leu27=) c.*112C= (n.*112C=) c.704C= | |
14 | g.87976396G>T | CA487366244 | GALC | c.714C>A (p.Leu238=) c.645C>A (p.Leu215=) c.636C>A (p.Leu212=) n.704C>A n.469C>A c.546C>A (p.Leu182=) n.593C>A c.81C>A (p.Leu27=) c.*112C>A (n.*112C>A) c.704C>A | |
14 | g.87976397A= | CA2153381764 | GALC | c.713T= (p.Leu238=) c.644T= (p.Leu215=) c.635T= (p.Leu212=) n.703T= n.468T= c.545T= (p.Leu182=) n.592T= c.80T= (p.Leu27=) c.*111T= (n.*111T=) c.703T= | |
14 | g.87976397A>C | CA390749413 | GALC | c.713T>G (p.Leu238Arg) c.644T>G (p.Leu215Arg) c.635T>G (p.Leu212Arg) n.703T>G n.468T>G c.545T>G (p.Leu182Arg) n.592T>G c.80T>G (p.Leu27Arg) c.*111T>G (n.*111T>G) c.703T>G | |
14 | g.87976397A>G | CA264708294 | GALC | c.713T>C (p.Leu238Pro) c.644T>C (p.Leu215Pro) c.635T>C (p.Leu212Pro) n.703T>C n.468T>C c.545T>C (p.Leu182Pro) n.592T>C c.80T>C (p.Leu27Pro) c.*111T>C (n.*111T>C) c.703T>C | dbSNP gnomAD v4 |
14 | g.87976397A>T | CA390749414 | GALC | c.713T>A (p.Leu238His) c.644T>A (p.Leu215His) c.635T>A (p.Leu212His) n.703T>A n.468T>A c.545T>A (p.Leu182His) n.592T>A c.80T>A (p.Leu27His) c.*111T>A (n.*111T>A) c.703T>A | |
14 | g.87976398G>A | CA390749418 | GALC | c.712C>T (p.Leu238Phe) c.643C>T (p.Leu215Phe) c.634C>T (p.Leu212Phe) n.702C>T n.467C>T c.544C>T (p.Leu182Phe) n.591C>T c.79C>T (p.Leu27Phe) c.*110C>T (n.*110C>T) c.702C>T | |
14 | g.87976398G>C | CA390749416 | GALC | c.712C>G (p.Leu238Val) c.643C>G (p.Leu215Val) c.634C>G (p.Leu212Val) n.702C>G n.467C>G c.544C>G (p.Leu182Val) n.591C>G c.79C>G (p.Leu27Val) c.*110C>G (n.*110C>G) c.702C>G | |
14 | g.87976398G>T | CA390749415 | GALC | c.712C>A (p.Leu238Ile) c.643C>A (p.Leu215Ile) c.634C>A (p.Leu212Ile) n.702C>A n.467C>A c.544C>A (p.Leu182Ile) n.591C>A c.79C>A (p.Leu27Ile) c.*110C>A (n.*110C>A) c.702C>A | |
14 | g.87976399C>A | CA390749420 | GALC | c.711G>T (p.Met237Ile) c.642G>T (p.Met214Ile) c.633G>T (p.Met211Ile) n.701G>T n.466G>T c.543G>T (p.Met181Ile) n.590G>T c.78G>T (p.Met26Ile) c.*109G>T (n.*109G>T) c.701G>T | |
14 | g.87976399C>G | CA390749422 | GALC | c.711G>C (p.Met237Ile) c.642G>C (p.Met214Ile) c.633G>C (p.Met211Ile) n.701G>C n.466G>C c.543G>C (p.Met181Ile) n.590G>C c.78G>C (p.Met26Ile) c.*109G>C (n.*109G>C) c.701G>C | |
14 | g.87976399C>T | CA390749424 | GALC | c.711G>A (p.Met237Ile) c.642G>A (p.Met214Ile) c.633G>A (p.Met211Ile) n.701G>A n.466G>A c.543G>A (p.Met181Ile) n.590G>A c.78G>A (p.Met26Ile) c.*109G>A (n.*109G>A) c.701G>A | |
14 | g.87976400A= | CA2153381765 | GALC | c.710T= (p.Met237=) c.641T= (p.Met214=) c.632T= (p.Met211=) n.700T= n.465T= c.542T= (p.Met181=) n.589T= c.77T= (p.Met26=) c.*108T= (n.*108T=) c.700T= | |
14 | g.87976400A>C | CA390749426 | GALC | c.710T>G (p.Met237Arg) c.641T>G (p.Met214Arg) c.632T>G (p.Met211Arg) n.700T>G n.465T>G c.542T>G (p.Met181Arg) n.589T>G c.77T>G (p.Met26Arg) c.*108T>G (n.*108T>G) c.700T>G | |
14 | g.87976400A>G | CA390749428 | GALC | c.710T>C (p.Met237Thr) c.641T>C (p.Met214Thr) c.632T>C (p.Met211Thr) n.700T>C n.465T>C c.542T>C (p.Met181Thr) n.589T>C c.77T>C (p.Met26Thr) c.*108T>C (n.*108T>C) c.700T>C | dbSNP |
14 | g.87976400A>T | CA390749430 | GALC | c.710T>A (p.Met237Lys) c.641T>A (p.Met214Lys) c.632T>A (p.Met211Lys) n.700T>A n.465T>A c.542T>A (p.Met181Lys) n.589T>A c.77T>A (p.Met26Lys) c.*108T>A (n.*108T>A) c.700T>A | gnomAD v4 |
14 | g.87976401T>A | CA390749432 | GALC | c.709A>T (p.Met237Leu) c.640A>T (p.Met214Leu) c.631A>T (p.Met211Leu) n.699A>T n.464A>T c.541A>T (p.Met181Leu) n.588A>T c.76A>T (p.Met26Leu) c.*107A>T (n.*107A>T) c.699A>T | |
14 | g.87976401T>C | CA390749434 | GALC | c.709A>G (p.Met237Val) c.640A>G (p.Met214Val) c.631A>G (p.Met211Val) n.699A>G n.464A>G c.541A>G (p.Met181Val) n.588A>G c.76A>G (p.Met26Val) c.*107A>G (n.*107A>G) c.699A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.87976401T>G | CA390749436 | GALC | c.709A>C (p.Met237Leu) c.640A>C (p.Met214Leu) c.631A>C (p.Met211Leu) n.699A>C n.464A>C c.541A>C (p.Met181Leu) n.588A>C c.76A>C (p.Met26Leu) c.*107A>C (n.*107A>C) c.699A>C | |
14 | g.87976401T= | CA2153381767 | GALC | c.709A= (p.Met237=) c.640A= (p.Met214=) c.631A= (p.Met211=) n.699A= n.464A= c.541A= (p.Met181=) n.588A= c.76A= (p.Met26=) c.*107A= (n.*107A=) c.699A= | |
14 | g.87976401_87976402delinsTG | CA2153381766 | GALC | c.708_709delinsCA (p.Ser236=) c.639_640delinsCA (p.Ser213=) c.630_631delinsCA (p.Ser210=) n.698_699delinsCA n.463_464delinsCA c.540_541delinsCA (p.Ser180=) n.587_588delinsCA c.75_76delinsCA (p.Ser25=) c.*106_*107delinsCA (n.*106_*107delinsCA) c.698_699delinsCA | |
14 | g.87976402G>A | CA7297271 | GALC | c.708C>T (p.Ser236=) c.639C>T (p.Ser213=) c.630C>T (p.Ser210=) n.698C>T n.463C>T c.540C>T (p.Ser180=) n.587C>T c.75C>T (p.Ser25=) c.*106C>T (n.*106C>T) c.698C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87976402G>C | CA487366247 | GALC | c.708C>G (p.Ser236=) c.639C>G (p.Ser213=) c.630C>G (p.Ser210=) n.698C>G n.463C>G c.540C>G (p.Ser180=) n.587C>G c.75C>G (p.Ser25=) c.*106C>G (n.*106C>G) c.698C>G | |
14 | g.87976402G= | CA2153381768 | GALC | c.708C= (p.Ser236=) c.639C= (p.Ser213=) c.630C= (p.Ser210=) n.698C= n.463C= c.540C= (p.Ser180=) n.587C= c.75C= (p.Ser25=) c.*106C= (n.*106C=) c.698C= | |
14 | g.87976402G>T | CA487366249 | GALC | c.708C>A (p.Ser236=) c.639C>A (p.Ser213=) c.630C>A (p.Ser210=) n.698C>A n.463C>A c.540C>A (p.Ser180=) n.587C>A c.75C>A (p.Ser25=) c.*106C>A (n.*106C>A) c.698C>A | |
14 | g.87976403del | CA615276306 | GALC | c.708del (p.Met237CysfsTer14) c.639del (p.Met214CysfsTer14) c.630del (p.Met211CysfsTer14) n.698del n.463del c.540del (p.Met181CysfsTer14) n.587del c.75del (p.Met26CysfsTer14) c.*106del (n.*106del) c.698del | dbSNP gnomAD v2 |
14 | g.87976403G>A | CA7297272 | GALC | c.707C>T (p.Ser236Phe) c.638C>T (p.Ser213Phe) c.629C>T (p.Ser210Phe) n.697C>T n.462C>T c.539C>T (p.Ser180Phe) n.586C>T c.74C>T (p.Ser25Phe) c.*105C>T (n.*105C>T) c.697C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.87976403G>C | CA390749440 | GALC | c.707C>G (p.Ser236Cys) c.638C>G (p.Ser213Cys) c.629C>G (p.Ser210Cys) n.697C>G n.462C>G c.539C>G (p.Ser180Cys) n.586C>G c.74C>G (p.Ser25Cys) c.*105C>G (n.*105C>G) c.697C>G | |
14 | g.87976403G= | CA2153381769 | GALC | c.707C= (p.Ser236=) c.638C= (p.Ser213=) c.629C= (p.Ser210=) n.697C= n.462C= c.539C= (p.Ser180=) n.586C= c.74C= (p.Ser25=) c.*105C= (n.*105C=) c.697C= | |
14 | g.87976403G>T | CA390749441 | GALC | c.707C>A (p.Ser236Tyr) c.638C>A (p.Ser213Tyr) c.629C>A (p.Ser210Tyr) n.697C>A n.462C>A c.539C>A (p.Ser180Tyr) n.586C>A c.74C>A (p.Ser25Tyr) c.*105C>A (n.*105C>A) c.697C>A | COSMIC COSMIC |
14 | g.87976404A= | CA2153381770 | GALC | c.706T= (p.Ser236=) c.637T= (p.Ser213=) c.628T= (p.Ser210=) n.696T= n.461T= c.538T= (p.Ser180=) n.585T= c.73T= (p.Ser25=) c.*104T= (n.*104T=) c.696T= | |
14 | g.87976404A>C | CA390749445 | GALC | c.706T>G (p.Ser236Ala) c.637T>G (p.Ser213Ala) c.628T>G (p.Ser210Ala) n.696T>G n.461T>G c.538T>G (p.Ser180Ala) n.585T>G c.73T>G (p.Ser25Ala) c.*104T>G (n.*104T>G) c.696T>G | |
14 | g.87976404A>G | CA390749446 | GALC | c.706T>C (p.Ser236Pro) c.637T>C (p.Ser213Pro) c.628T>C (p.Ser210Pro) n.696T>C n.461T>C c.538T>C (p.Ser180Pro) n.585T>C c.73T>C (p.Ser25Pro) c.*104T>C (n.*104T>C) c.696T>C | gnomAD v4 |
14 | g.87976404A>T | CA390749443 | GALC | c.706T>A (p.Ser236Thr) c.637T>A (p.Ser213Thr) c.628T>A (p.Ser210Thr) n.696T>A n.461T>A c.538T>A (p.Ser180Thr) n.585T>A c.73T>A (p.Ser25Thr) c.*104T>A (n.*104T>A) c.696T>A | |
14 | g.87976404_87976405insG | CA615276310 | GALC | c.705_706insC (p.Ser236LeufsTer5) c.636_637insC (p.Ser213LeufsTer5) c.627_628insC (p.Ser210LeufsTer5) n.695_696insC n.460_461insC c.537_538insC (p.Ser180LeufsTer5) n.584_585insC c.72_73insC (p.Ser25LeufsTer5) c.*103_*104insC (n.*103_*104insC) c.695_696insC | dbSNP gnomAD v2 gnomAD v4 |
14 | g.87976405T>A | CA487366252 | GALC | c.705A>T (p.Ala235=) c.636A>T (p.Ala212=) c.627A>T (p.Ala209=) n.695A>T n.460A>T c.537A>T (p.Ala179=) n.584A>T c.72A>T (p.Ala24=) c.*103A>T (n.*103A>T) c.695A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.87976405T>C | CA7297273 | GALC | c.705A>G (p.Ala235=) c.636A>G (p.Ala212=) c.627A>G (p.Ala209=) n.695A>G n.460A>G c.537A>G (p.Ala179=) n.584A>G c.72A>G (p.Ala24=) c.*103A>G (n.*103A>G) c.695A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87976405T>G | CA487366253 | GALC | c.705A>C (p.Ala235=) c.636A>C (p.Ala212=) c.627A>C (p.Ala209=) n.695A>C n.460A>C c.537A>C (p.Ala179=) n.584A>C c.72A>C (p.Ala24=) c.*103A>C (n.*103A>C) c.695A>C | |
14 | g.87976405T= | CA2153381771 | GALC | c.705A= (p.Ala235=) c.636A= (p.Ala212=) c.627A= (p.Ala209=) n.695A= n.460A= c.537A= (p.Ala179=) n.584A= c.72A= (p.Ala24=) c.*103A= (n.*103A=) c.695A= | |
14 | g.87976406G>A | CA264708308 | GALC | c.704C>T (p.Ala235Val) c.635C>T (p.Ala212Val) c.626C>T (p.Ala209Val) n.694C>T n.459C>T c.536C>T (p.Ala179Val) n.583C>T c.71C>T (p.Ala24Val) c.*102C>T (n.*102C>T) c.694C>T | dbSNP gnomAD v4 |
14 | g.87976406G>C | CA390749452 | GALC | c.704C>G (p.Ala235Gly) c.635C>G (p.Ala212Gly) c.626C>G (p.Ala209Gly) n.694C>G n.459C>G c.536C>G (p.Ala179Gly) n.583C>G c.71C>G (p.Ala24Gly) c.*102C>G (n.*102C>G) c.694C>G | |
14 | g.87976406G= | CA2153381772 | GALC | c.704C= (p.Ala235=) c.635C= (p.Ala212=) c.626C= (p.Ala209=) n.694C= n.459C= c.536C= (p.Ala179=) n.583C= c.71C= (p.Ala24=) c.*102C= (n.*102C=) c.694C= | |
14 | g.87976406G>T | CA390749450 | GALC | c.704C>A (p.Ala235Glu) c.635C>A (p.Ala212Glu) c.626C>A (p.Ala209Glu) n.694C>A n.459C>A c.536C>A (p.Ala179Glu) n.583C>A c.71C>A (p.Ala24Glu) c.*102C>A (n.*102C>A) c.694C>A | |
14 | g.87976407C>A | CA390749453 | GALC | c.703G>T (p.Ala235Ser) c.634G>T (p.Ala212Ser) c.625G>T (p.Ala209Ser) n.693G>T n.458G>T c.535G>T (p.Ala179Ser) n.582G>T c.70G>T (p.Ala24Ser) c.*101G>T (n.*101G>T) c.693G>T | |
14 | g.87976407C>G | CA390749454 | GALC | c.703G>C (p.Ala235Pro) c.634G>C (p.Ala212Pro) c.625G>C (p.Ala209Pro) n.693G>C n.458G>C c.535G>C (p.Ala179Pro) n.582G>C c.70G>C (p.Ala24Pro) c.*101G>C (n.*101G>C) c.693G>C | |
14 | g.87976407C>T | CA390749455 | GALC | c.703G>A (p.Ala235Thr) c.634G>A (p.Ala212Thr) c.625G>A (p.Ala209Thr) n.693G>A n.458G>A c.535G>A (p.Ala179Thr) n.582G>A c.70G>A (p.Ala24Thr) c.*101G>A (n.*101G>A) c.693G>A | |
14 | g.87976408A>C | CA487366257 | GALC | c.702T>G (p.Ser234=) c.633T>G (p.Ser211=) c.624T>G (p.Ser208=) n.692T>G n.457T>G c.534T>G (p.Ser178=) n.581T>G c.69T>G (p.Ser23=) c.*100T>G (n.*100T>G) c.692T>G | |
14 | g.87976408A>G | CA487366258 | GALC | c.702T>C (p.Ser234=) c.633T>C (p.Ser211=) c.624T>C (p.Ser208=) n.692T>C n.457T>C c.534T>C (p.Ser178=) n.581T>C c.69T>C (p.Ser23=) c.*100T>C (n.*100T>C) c.692T>C | |
14 | g.87976408A>T | CA487366259 | GALC | c.702T>A (p.Ser234=) c.633T>A (p.Ser211=) c.624T>A (p.Ser208=) n.692T>A n.457T>A c.534T>A (p.Ser178=) n.581T>A c.69T>A (p.Ser23=) c.*100T>A (n.*100T>A) c.692T>A | |
14 | g.87976409G>A | CA390749456 | GALC | c.701C>T (p.Ser234Phe) c.632C>T (p.Ser211Phe) c.623C>T (p.Ser208Phe) n.691C>T n.456C>T c.533C>T (p.Ser178Phe) n.580C>T c.68C>T (p.Ser23Phe) c.*99C>T (n.*99C>T) c.691C>T | |
14 | g.87976409G>C | CA7297274 | GALC | c.701C>G (p.Ser234Cys) c.632C>G (p.Ser211Cys) c.623C>G (p.Ser208Cys) n.691C>G n.456C>G c.533C>G (p.Ser178Cys) n.580C>G c.68C>G (p.Ser23Cys) c.*99C>G (n.*99C>G) c.691C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.87976409G= | CA2153381773 | GALC | c.701C= (p.Ser234=) c.632C= (p.Ser211=) c.623C= (p.Ser208=) n.691C= n.456C= c.533C= (p.Ser178=) n.580C= c.68C= (p.Ser23=) c.*99C= (n.*99C=) c.691C= | |
14 | g.87976409G>T | CA390749457 | GALC | c.701C>A (p.Ser234Tyr) c.632C>A (p.Ser211Tyr) c.623C>A (p.Ser208Tyr) n.691C>A n.456C>A c.533C>A (p.Ser178Tyr) n.580C>A c.68C>A (p.Ser23Tyr) c.*99C>A (n.*99C>A) c.691C>A | |
14 | g.87976410A>C | CA390749459 | GALC | c.700T>G (p.Ser234Ala) c.631T>G (p.Ser211Ala) c.622T>G (p.Ser208Ala) n.690T>G n.455T>G c.532T>G (p.Ser178Ala) n.579T>G c.67T>G (p.Ser23Ala) c.*98T>G (n.*98T>G) c.690T>G | |
14 | g.87976410A>G | CA390749460 | GALC | c.700T>C (p.Ser234Pro) c.631T>C (p.Ser211Pro) c.622T>C (p.Ser208Pro) n.690T>C n.455T>C c.532T>C (p.Ser178Pro) n.579T>C c.67T>C (p.Ser23Pro) c.*98T>C (n.*98T>C) c.690T>C | gnomAD v4 |
14 | g.87976410A>T | CA390749463 | GALC | c.700T>A (p.Ser234Thr) c.631T>A (p.Ser211Thr) c.622T>A (p.Ser208Thr) n.690T>A n.455T>A c.532T>A (p.Ser178Thr) n.579T>A c.67T>A (p.Ser23Thr) c.*98T>A (n.*98T>A) c.690T>A | |
14 | g.87976411G>A | CA487366261 | GALC | c.699C>T (p.Ile233=) c.630C>T (p.Ile210=) c.621C>T (p.Ile207=) n.689C>T n.454C>T c.531C>T (p.Ile177=) n.578C>T c.66C>T (p.Ile22=) c.*97C>T (n.*97C>T) c.689C>T | |
14 | g.87976411G>C | CA390749465 | GALC | c.699C>G (p.Ile233Met) c.630C>G (p.Ile210Met) c.621C>G (p.Ile207Met) n.689C>G n.454C>G c.531C>G (p.Ile177Met) n.578C>G c.66C>G (p.Ile22Met) c.*97C>G (n.*97C>G) c.689C>G | |
14 | g.87976411G>T | CA487366262 | GALC | c.699C>A (p.Ile233=) c.630C>A (p.Ile210=) c.621C>A (p.Ile207=) n.689C>A n.454C>A c.531C>A (p.Ile177=) n.578C>A c.66C>A (p.Ile22=) c.*97C>A (n.*97C>A) c.689C>A | |
14 | g.87976412A>C | CA390749468 | GALC | c.698T>G (p.Ile233Ser) c.629T>G (p.Ile210Ser) c.620T>G (p.Ile207Ser) n.688T>G n.453T>G c.530T>G (p.Ile177Ser) n.577T>G c.65T>G (p.Ile22Ser) c.*96T>G (n.*96T>G) c.688T>G | |
14 | g.87976412A>G | CA390749470 | GALC | c.698T>C (p.Ile233Thr) c.629T>C (p.Ile210Thr) c.620T>C (p.Ile207Thr) n.688T>C n.453T>C c.530T>C (p.Ile177Thr) n.577T>C c.65T>C (p.Ile22Thr) c.*96T>C (n.*96T>C) c.688T>C | |
14 | g.87976412A>T | CA390749473 | GALC | c.698T>A (p.Ile233Asn) c.629T>A (p.Ile210Asn) c.620T>A (p.Ile207Asn) n.688T>A n.453T>A c.530T>A (p.Ile177Asn) n.577T>A c.65T>A (p.Ile22Asn) c.*96T>A (n.*96T>A) c.688T>A | |
14 | g.87976413T>A | CA390749480 | GALC | c.697A>T (p.Ile233Phe) c.628A>T (p.Ile210Phe) c.619A>T (p.Ile207Phe) n.687A>T n.452A>T c.529A>T (p.Ile177Phe) n.576A>T c.64A>T (p.Ile22Phe) c.*95A>T (n.*95A>T) c.687A>T | |
14 | g.87976413T>C | CA390749476 | GALC | c.697A>G (p.Ile233Val) c.628A>G (p.Ile210Val) c.619A>G (p.Ile207Val) n.687A>G n.452A>G c.529A>G (p.Ile177Val) n.576A>G c.64A>G (p.Ile22Val) c.*95A>G (n.*95A>G) c.687A>G | dbSNP gnomAD v4 |
14 | g.87976413T>G | CA390749478 | GALC | c.697A>C (p.Ile233Leu) c.628A>C (p.Ile210Leu) c.619A>C (p.Ile207Leu) n.687A>C n.452A>C c.529A>C (p.Ile177Leu) n.576A>C c.64A>C (p.Ile22Leu) c.*95A>C (n.*95A>C) c.687A>C | |
14 | g.87976414G>A | CA487366264 | GALC | c.696C>T (p.Ser232=) c.627C>T (p.Ser209=) c.618C>T (p.Ser206=) n.686C>T n.451C>T c.528C>T (p.Ser176=) n.575C>T c.63C>T (p.Ser21=) c.*94C>T (n.*94C>T) c.686C>T | ClinVar COSMIC |
14 | g.87976414G>C | CA487366265 | GALC | c.696C>G (p.Ser232=) c.627C>G (p.Ser209=) c.618C>G (p.Ser206=) n.686C>G n.451C>G c.528C>G (p.Ser176=) n.575C>G c.63C>G (p.Ser21=) c.*94C>G (n.*94C>G) c.686C>G | |
14 | g.87976414G>T | CA487366266 | GALC | c.696C>A (p.Ser232=) c.627C>A (p.Ser209=) c.618C>A (p.Ser206=) n.686C>A n.451C>A c.528C>A (p.Ser176=) n.575C>A c.63C>A (p.Ser21=) c.*94C>A (n.*94C>A) c.686C>A | |
14 | g.87976415G>A | CA390749487 | GALC | c.695C>T (p.Ser232Phe) c.626C>T (p.Ser209Phe) c.617C>T (p.Ser206Phe) n.685C>T n.450C>T c.527C>T (p.Ser176Phe) n.574C>T c.62C>T (p.Ser21Phe) c.*93C>T (n.*93C>T) c.685C>T | gnomAD v4 COSMIC |
14 | g.87976415G>C | CA390749496 | GALC | c.695C>G (p.Ser232Cys) c.626C>G (p.Ser209Cys) c.617C>G (p.Ser206Cys) n.685C>G n.450C>G c.527C>G (p.Ser176Cys) n.574C>G c.62C>G (p.Ser21Cys) c.*93C>G (n.*93C>G) c.685C>G | ClinVar |
14 | g.87976415G>T | CA390749498 | GALC | c.695C>A (p.Ser232Tyr) c.626C>A (p.Ser209Tyr) c.617C>A (p.Ser206Tyr) n.685C>A n.450C>A c.527C>A (p.Ser176Tyr) n.574C>A c.62C>A (p.Ser21Tyr) c.*93C>A (n.*93C>A) c.685C>A | |
14 | g.87976415_87976422delinsGACTCCCA | CA2153381774 | GALC | c.688_695delinsTGGGAGTC (p.Trp230=) c.619_626delinsTGGGAGTC (p.Trp207=) c.610_617delinsTGGGAGTC (p.Trp204=) n.678_685delinsTGGGAGTC n.443_450delinsTGGGAGTC c.520_527delinsTGGGAGTC (p.Trp174=) n.567_574delinsTGGGAGTC c.55_62delinsTGGGAGTC (p.Trp19=) c.*86_*93delinsTGGGAGTC (n.*86_*93delinsTGGGAGTC) c.678_685delinsTGGGAGTC | |
14 | g.87976415_87976424delinsGACTCCCAGA | CA2153381775 | GALC | c.686_695delinsTCTGGGAGTC (p.Leu229=) c.617_626delinsTCTGGGAGTC (p.Leu206=) c.608_617delinsTCTGGGAGTC (p.Leu203=) n.676_685delinsTCTGGGAGTC n.441_450delinsTCTGGGAGTC c.518_527delinsTCTGGGAGTC (p.Leu173=) n.565_574delinsTCTGGGAGTC c.53_62delinsTCTGGGAGTC (p.Leu18=) c.*84_*93delinsTCTGGGAGTC (n.*84_*93delinsTCTGGGAGTC) c.676_685delinsTCTGGGAGTC | |
14 | g.87976416A>C | CA390749500 | GALC | c.694T>G (p.Ser232Ala) c.625T>G (p.Ser209Ala) c.616T>G (p.Ser206Ala) n.684T>G n.449T>G c.526T>G (p.Ser176Ala) n.573T>G c.61T>G (p.Ser21Ala) c.*92T>G (n.*92T>G) c.684T>G | |
14 | g.87976416A>G | CA390749503 | GALC | c.694T>C (p.Ser232Pro) c.625T>C (p.Ser209Pro) c.616T>C (p.Ser206Pro) n.684T>C n.449T>C c.526T>C (p.Ser176Pro) n.573T>C c.61T>C (p.Ser21Pro) c.*92T>C (n.*92T>C) c.684T>C | |
14 | g.87976416A>T | CA390749504 | GALC | c.694T>A (p.Ser232Thr) c.625T>A (p.Ser209Thr) c.616T>A (p.Ser206Thr) n.684T>A n.449T>A c.526T>A (p.Ser176Thr) n.573T>A c.61T>A (p.Ser21Thr) c.*92T>A (n.*92T>A) c.684T>A | |
14 | g.87976416_87976422del | CA7297275 | GALC | c.688_694del (p.Trp230ProfsTer19) c.619_625del (p.Trp207ProfsTer19) c.610_616del (p.Trp204ProfsTer19) n.678_684del n.443_449del c.520_526del (p.Trp174ProfsTer19) n.567_573del c.55_61del (p.Trp19ProfsTer19) c.*86_*92del (n.*86_*92del) c.678_684del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.87976416_87976424del | CA2153381776 | GALC | c.686_694del (p.Leu229_Ser232delinsPro) c.617_625del (p.Leu206_Ser209delinsPro) c.608_616del (p.Leu203_Ser206delinsPro) n.676_684del n.441_449del c.518_526del (p.Leu173_Ser176delinsPro) n.565_573del c.53_61del (p.Leu18_Ser21delinsPro) c.*84_*92del (n.*84_*92del) c.676_684del | dbSNP |
14 | g.87976416_87976427delinsGAG | CA2573053949 | GALC | c.683_694delinsCTC (p.Asn228_Ser232delinsThrPro) c.614_625delinsCTC (p.Asn205_Ser209delinsThrPro) c.605_616delinsCTC (p.Asn202_Ser206delinsThrPro) n.673_684delinsCTC n.438_449delinsCTC c.515_526delinsCTC (p.Asn172_Ser176delinsThrPro) n.562_573delinsCTC c.50_61delinsCTC (p.Asn17_Ser21delinsThrPro) c.*81_*92delinsCTC (n.*81_*92delinsCTC) c.673_684delinsCTC | ClinVar dbSNP |
14 | g.87976417C>A | CA7297276 | GALC | c.693G>T (p.Glu231Asp) c.624G>T (p.Glu208Asp) c.615G>T (p.Glu205Asp) n.683G>T n.448G>T c.525G>T (p.Glu175Asp) n.572G>T c.60G>T (p.Glu20Asp) c.*91G>T (n.*91G>T) c.683G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87976417C= | CA2153381777 | GALC | c.693G= (p.Glu231=) c.624G= (p.Glu208=) c.615G= (p.Glu205=) n.683G= n.448G= c.525G= (p.Glu175=) n.572G= c.60G= (p.Glu20=) c.*91G= (n.*91G=) c.683G= | |
14 | g.87976417C>G | CA264708332 | GALC | c.693G>C (p.Glu231Asp) c.624G>C (p.Glu208Asp) c.615G>C (p.Glu205Asp) n.683G>C n.448G>C c.525G>C (p.Glu175Asp) n.572G>C c.60G>C (p.Glu20Asp) c.*91G>C (n.*91G>C) c.683G>C | ClinVar dbSNP |
14 | g.87976417C>T | CA487366268 | GALC | c.693G>A (p.Glu231=) c.624G>A (p.Glu208=) c.615G>A (p.Glu205=) n.683G>A n.448G>A c.525G>A (p.Glu175=) n.572G>A c.60G>A (p.Glu20=) c.*91G>A (n.*91G>A) c.683G>A | |
14 | g.87976418T>A | CA390749517 | GALC | c.692A>T (p.Glu231Val) c.623A>T (p.Glu208Val) c.614A>T (p.Glu205Val) n.682A>T n.447A>T c.524A>T (p.Glu175Val) n.571A>T c.59A>T (p.Glu20Val) c.*90A>T (n.*90A>T) c.682A>T | |
14 | g.87976418T>C | CA390749520 | GALC | c.692A>G (p.Glu231Gly) c.623A>G (p.Glu208Gly) c.614A>G (p.Glu205Gly) n.682A>G n.447A>G c.524A>G (p.Glu175Gly) n.571A>G c.59A>G (p.Glu20Gly) c.*90A>G (n.*90A>G) c.682A>G | |
14 | g.87976418T>G | CA390749521 | GALC | c.692A>C (p.Glu231Ala) c.623A>C (p.Glu208Ala) c.614A>C (p.Glu205Ala) n.682A>C n.447A>C c.524A>C (p.Glu175Ala) n.571A>C c.59A>C (p.Glu20Ala) c.*90A>C (n.*90A>C) c.682A>C | |
14 | g.87976419C>A | CA390749522 | GALC | c.691G>T (p.Glu231Ter) c.622G>T (p.Glu208Ter) c.613G>T (p.Glu205Ter) n.681G>T n.446G>T c.523G>T (p.Glu175Ter) n.570G>T c.58G>T (p.Glu20Ter) c.*89G>T (n.*89G>T) c.681G>T | |
14 | g.87976419C= | CA2153381778 | GALC | c.691G= (p.Glu231=) c.622G= (p.Glu208=) c.613G= (p.Glu205=) n.681G= n.446G= c.523G= (p.Glu175=) n.570G= c.58G= (p.Glu20=) c.*89G= (n.*89G=) c.681G= | |
14 | g.87976419C>G | CA390749523 | GALC | c.691G>C (p.Glu231Gln) c.622G>C (p.Glu208Gln) c.613G>C (p.Glu205Gln) n.681G>C n.446G>C c.523G>C (p.Glu175Gln) n.570G>C c.58G>C (p.Glu20Gln) c.*89G>C (n.*89G>C) c.681G>C | |
14 | g.87976419C>T | CA7297277 | GALC | c.691G>A (p.Glu231Lys) c.622G>A (p.Glu208Lys) c.613G>A (p.Glu205Lys) n.681G>A n.446G>A c.523G>A (p.Glu175Lys) n.570G>A c.58G>A (p.Glu20Lys) c.*89G>A (n.*89G>A) c.681G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87976421del | CA2625960319 | GALC | c.691del (p.Glu231SerfsTer20) c.622del (p.Glu208SerfsTer20) c.613del (p.Glu205SerfsTer20) n.681del n.446del c.523del (p.Glu175SerfsTer20) n.570del c.58del (p.Glu20SerfsTer20) c.*89del (n.*89del) c.681del | ClinVar gnomAD v4 |
14 | g.87976420C>A | CA390749524 | GALC | c.690G>T (p.Trp230Cys) c.621G>T (p.Trp207Cys) c.612G>T (p.Trp204Cys) n.680G>T n.445G>T c.522G>T (p.Trp174Cys) n.569G>T c.57G>T (p.Trp19Cys) c.*88G>T (n.*88G>T) c.680G>T | |
14 | g.87976420C>G | CA390749525 | GALC | c.690G>C (p.Trp230Cys) c.621G>C (p.Trp207Cys) c.612G>C (p.Trp204Cys) n.680G>C n.445G>C c.522G>C (p.Trp174Cys) n.569G>C c.57G>C (p.Trp19Cys) c.*88G>C (n.*88G>C) c.680G>C | gnomAD v4 |
14 | g.87976420C>T | CA390749526 | GALC | c.690G>A (p.Trp230Ter) c.621G>A (p.Trp207Ter) c.612G>A (p.Trp204Ter) n.680G>A n.445G>A c.522G>A (p.Trp174Ter) n.569G>A c.57G>A (p.Trp19Ter) c.*88G>A (n.*88G>A) c.680G>A | |
14 | g.87976421C>A | CA390749527 | GALC | c.689G>T (p.Trp230Leu) c.620G>T (p.Trp207Leu) c.611G>T (p.Trp204Leu) n.679G>T n.444G>T c.521G>T (p.Trp174Leu) n.568G>T c.56G>T (p.Trp19Leu) c.*87G>T (n.*87G>T) c.679G>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.87976421C= | CA2153381779 | GALC | c.689G= (p.Trp230=) c.620G= (p.Trp207=) c.611G= (p.Trp204=) n.679G= n.444G= c.521G= (p.Trp174=) n.568G= c.56G= (p.Trp19=) c.*87G= (n.*87G=) c.679G= | |
14 | g.87976421C>G | CA390749528 | GALC | c.689G>C (p.Trp230Ser) c.620G>C (p.Trp207Ser) c.611G>C (p.Trp204Ser) n.679G>C n.444G>C c.521G>C (p.Trp174Ser) n.568G>C c.56G>C (p.Trp19Ser) c.*87G>C (n.*87G>C) c.679G>C | |
14 | g.87976421C>T | CA390749529 | GALC | c.689G>A (p.Trp230Ter) c.620G>A (p.Trp207Ter) c.611G>A (p.Trp204Ter) n.679G>A n.444G>A c.521G>A (p.Trp174Ter) n.568G>A c.56G>A (p.Trp19Ter) c.*87G>A (n.*87G>A) c.679G>A | |
14 | g.87976422A>C | CA390749530 | GALC | c.688T>G (p.Trp230Gly) c.619T>G (p.Trp207Gly) c.610T>G (p.Trp204Gly) n.678T>G n.443T>G c.520T>G (p.Trp174Gly) n.567T>G c.55T>G (p.Trp19Gly) c.*86T>G (n.*86T>G) c.678T>G | |
14 | g.87976422A>G | CA390749531 | GALC | c.688T>C (p.Trp230Arg) c.619T>C (p.Trp207Arg) c.610T>C (p.Trp204Arg) n.678T>C n.443T>C c.520T>C (p.Trp174Arg) n.567T>C c.55T>C (p.Trp19Arg) c.*86T>C (n.*86T>C) c.678T>C | |
14 | g.87976422A>T | CA390749533 | GALC | c.688T>A (p.Trp230Arg) c.619T>A (p.Trp207Arg) c.610T>A (p.Trp204Arg) n.678T>A n.443T>A c.520T>A (p.Trp174Arg) n.567T>A c.55T>A (p.Trp19Arg) c.*86T>A (n.*86T>A) c.678T>A | |
14 | g.87976422_87976435del | CA2625960320 | GALC | c.675_688del (p.Ser226GlyfsTer10) c.606_619del (p.Ser203GlyfsTer10) c.597_610del (p.Ser200GlyfsTer10) n.665_678del n.430_443del c.507_520del (p.Ser170GlyfsTer10) n.554_567del c.42_55del (p.Ser15GlyfsTer10) c.*73_*86del (n.*73_*86del) c.665_678del | gnomAD v4 |
14 | g.87976423G>A | CA487366272 | GALC | c.687C>T (p.Leu229=) c.618C>T (p.Leu206=) c.609C>T (p.Leu203=) n.677C>T n.442C>T c.519C>T (p.Leu173=) n.566C>T c.54C>T (p.Leu18=) c.*85C>T (n.*85C>T) c.677C>T | dbSNP |
14 | g.87976423G>C | CA487366273 | GALC | c.687C>G (p.Leu229=) c.618C>G (p.Leu206=) c.609C>G (p.Leu203=) n.677C>G n.442C>G c.519C>G (p.Leu173=) n.566C>G c.54C>G (p.Leu18=) c.*85C>G (n.*85C>G) c.677C>G | |
14 | g.87976423G= | CA2153381780 | GALC | c.687C= (p.Leu229=) c.618C= (p.Leu206=) c.609C= (p.Leu203=) n.677C= n.442C= c.519C= (p.Leu173=) n.566C= c.54C= (p.Leu18=) c.*85C= (n.*85C=) c.677C= | |
14 | g.87976423G>T | CA487366271 | GALC | c.687C>A (p.Leu229=) c.618C>A (p.Leu206=) c.609C>A (p.Leu203=) n.677C>A n.442C>A c.519C>A (p.Leu173=) n.566C>A c.54C>A (p.Leu18=) c.*85C>A (n.*85C>A) c.677C>A | |
14 | g.87976424A= | CA2153381781 | GALC | c.686T= (p.Leu229=) c.617T= (p.Leu206=) c.608T= (p.Leu203=) n.676T= n.441T= c.518T= (p.Leu173=) n.565T= c.53T= (p.Leu18=) c.*84T= (n.*84T=) c.676T= | |
14 | g.87976424A>C | CA390749535 | GALC | c.686T>G (p.Leu229Arg) c.617T>G (p.Leu206Arg) c.608T>G (p.Leu203Arg) n.676T>G n.441T>G c.518T>G (p.Leu173Arg) n.565T>G c.53T>G (p.Leu18Arg) c.*84T>G (n.*84T>G) c.676T>G | |
14 | g.87976424A>G | CA390749537 | GALC | c.686T>C (p.Leu229Pro) c.617T>C (p.Leu206Pro) c.608T>C (p.Leu203Pro) n.676T>C n.441T>C c.518T>C (p.Leu173Pro) n.565T>C c.53T>C (p.Leu18Pro) c.*84T>C (n.*84T>C) c.676T>C | dbSNP |
14 | g.87976424A>T | CA390749538 | GALC | c.686T>A (p.Leu229His) c.617T>A (p.Leu206His) c.608T>A (p.Leu203His) n.676T>A n.441T>A c.518T>A (p.Leu173His) n.565T>A c.53T>A (p.Leu18His) c.*84T>A (n.*84T>A) c.676T>A | |
14 | g.87976425G>A | CA390749541 | GALC | c.685C>T (p.Leu229Phe) c.616C>T (p.Leu206Phe) c.607C>T (p.Leu203Phe) n.675C>T n.440C>T c.517C>T (p.Leu173Phe) n.564C>T c.52C>T (p.Leu18Phe) c.*83C>T (n.*83C>T) c.675C>T | |
14 | g.87976425G>C | CA390749539 | GALC | c.685C>G (p.Leu229Val) c.616C>G (p.Leu206Val) c.607C>G (p.Leu203Val) n.675C>G n.440C>G c.517C>G (p.Leu173Val) n.564C>G c.52C>G (p.Leu18Val) c.*83C>G (n.*83C>G) c.675C>G | |
14 | g.87976425G= | CA2153381783 | GALC | c.685C= (p.Leu229=) c.616C= (p.Leu206=) c.607C= (p.Leu203=) n.675C= n.440C= c.517C= (p.Leu173=) n.564C= c.52C= (p.Leu18=) c.*83C= (n.*83C=) c.675C= | |
14 | g.87976425G>T | CA390749540 | GALC | c.685C>A (p.Leu229Ile) c.616C>A (p.Leu206Ile) c.607C>A (p.Leu203Ile) n.675C>A n.440C>A c.517C>A (p.Leu173Ile) n.564C>A c.52C>A (p.Leu18Ile) c.*83C>A (n.*83C>A) c.675C>A | dbSNP |
14 | g.87976425_87976427delinsGAT | CA2153381782 | GALC | c.683_685delinsATC (p.Asn228=) c.614_616delinsATC (p.Asn205=) c.605_607delinsATC (p.Asn202=) n.673_675delinsATC n.438_440delinsATC c.515_517delinsATC (p.Asn172=) n.562_564delinsATC c.50_52delinsATC (p.Asn17=) c.*81_*83delinsATC (n.*81_*83delinsATC) c.673_675delinsATC | |
14 | g.87976426A>C | CA390749542 | GALC | c.684T>G (p.Asn228Lys) c.615T>G (p.Asn205Lys) c.606T>G (p.Asn202Lys) n.674T>G n.439T>G c.516T>G (p.Asn172Lys) n.563T>G c.51T>G (p.Asn17Lys) c.*82T>G (n.*82T>G) c.674T>G | |
14 | g.87976426A>G | CA487366275 | GALC | c.684T>C (p.Asn228=) c.615T>C (p.Asn205=) c.606T>C (p.Asn202=) n.674T>C n.439T>C c.516T>C (p.Asn172=) n.563T>C c.51T>C (p.Asn17=) c.*82T>C (n.*82T>C) c.674T>C | gnomAD v4 |
14 | g.87976426A>T | CA390749544 | GALC | c.684T>A (p.Asn228Lys) c.615T>A (p.Asn205Lys) c.606T>A (p.Asn202Lys) n.674T>A n.439T>A c.516T>A (p.Asn172Lys) n.563T>A c.51T>A (p.Asn17Lys) c.*82T>A (n.*82T>A) c.674T>A | |
14 | g.87976426_87976427del | CA7297278 | GALC | c.683_684del (p.Asn228ThrfsTer12) c.614_615del (p.Asn205ThrfsTer12) c.605_606del (p.Asn202ThrfsTer12) n.673_674del n.438_439del c.515_516del (p.Asn172ThrfsTer12) n.562_563del c.50_51del (p.Asn17ThrfsTer12) c.*81_*82del (n.*81_*82del) c.673_674del | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.87976427T>A | CA390749545 | GALC | c.683A>T (p.Asn228Ile) c.614A>T (p.Asn205Ile) c.605A>T (p.Asn202Ile) n.673A>T n.438A>T c.515A>T (p.Asn172Ile) n.562A>T c.50A>T (p.Asn17Ile) c.*81A>T (n.*81A>T) c.673A>T | |
14 | g.87976427T>C | CA390749546 | GALC | c.683A>G (p.Asn228Ser) c.614A>G (p.Asn205Ser) c.605A>G (p.Asn202Ser) n.673A>G n.438A>G c.515A>G (p.Asn172Ser) n.562A>G c.50A>G (p.Asn17Ser) c.*81A>G (n.*81A>G) c.673A>G | |
14 | g.87976427T>G | CA390749547 | GALC | c.683A>C (p.Asn228Thr) c.614A>C (p.Asn205Thr) c.605A>C (p.Asn202Thr) n.673A>C n.438A>C c.515A>C (p.Asn172Thr) n.562A>C c.50A>C (p.Asn17Thr) c.*81A>C (n.*81A>C) c.673A>C | dbSNP |
14 | g.87976427T= | CA2153381784 | GALC | c.683A= (p.Asn228=) c.614A= (p.Asn205=) c.605A= (p.Asn202=) n.673A= n.438A= c.515A= (p.Asn172=) n.562A= c.50A= (p.Asn17=) c.*81A= (n.*81A=) c.673A= | |
14 | g.87976428T>A | CA390749548 | GALC | c.682A>T (p.Asn228Tyr) c.613A>T (p.Asn205Tyr) c.604A>T (p.Asn202Tyr) n.672A>T n.437A>T c.514A>T (p.Asn172Tyr) n.561A>T c.49A>T (p.Asn17Tyr) c.*80A>T (n.*80A>T) c.672A>T | |
14 | g.87976428T>C | CA390749549 | GALC | c.682A>G (p.Asn228Asp) c.613A>G (p.Asn205Asp) c.604A>G (p.Asn202Asp) n.672A>G n.437A>G c.514A>G (p.Asn172Asp) n.561A>G c.49A>G (p.Asn17Asp) c.*80A>G (n.*80A>G) c.672A>G | ClinVar dbSNP |
14 | g.87976428T>G | CA390749550 | GALC | c.682A>C (p.Asn228His) c.613A>C (p.Asn205His) c.604A>C (p.Asn202His) n.672A>C n.437A>C c.514A>C (p.Asn172His) n.561A>C c.49A>C (p.Asn17His) c.*80A>C (n.*80A>C) c.672A>C | |
14 | g.87976429A>C | CA390749553 | GALC | c.681T>G (p.Asp227Glu) c.612T>G (p.Asp204Glu) c.603T>G (p.Asp201Glu) n.671T>G n.436T>G c.513T>G (p.Asp171Glu) n.560T>G c.48T>G (p.Asp16Glu) c.*79T>G (n.*79T>G) c.671T>G | |
14 | g.87976429A>G | CA487366278 | GALC | c.681T>C (p.Asp227=) c.612T>C (p.Asp204=) c.603T>C (p.Asp201=) n.671T>C n.436T>C c.513T>C (p.Asp171=) n.560T>C c.48T>C (p.Asp16=) c.*79T>C (n.*79T>C) c.671T>C | |
14 | g.87976429A>T | CA390749555 | GALC | c.681T>A (p.Asp227Glu) c.612T>A (p.Asp204Glu) c.603T>A (p.Asp201Glu) n.671T>A n.436T>A c.513T>A (p.Asp171Glu) n.560T>A c.48T>A (p.Asp16Glu) c.*79T>A (n.*79T>A) c.671T>A | |
14 | g.87976430T>A | CA390749560 | GALC | c.680A>T (p.Asp227Val) c.611A>T (p.Asp204Val) c.602A>T (p.Asp201Val) n.670A>T n.435A>T c.512A>T (p.Asp171Val) n.559A>T c.47A>T (p.Asp16Val) c.*78A>T (n.*78A>T) c.670A>T | |
14 | g.87976430T>C | CA390749561 | GALC | c.680A>G (p.Asp227Gly) c.611A>G (p.Asp204Gly) c.602A>G (p.Asp201Gly) n.670A>G n.435A>G c.512A>G (p.Asp171Gly) n.559A>G c.47A>G (p.Asp16Gly) c.*78A>G (n.*78A>G) c.670A>G | ClinVar dbSNP gnomAD v4 |
14 | g.87976430T>G | CA390749557 | GALC | c.680A>C (p.Asp227Ala) c.611A>C (p.Asp204Ala) c.602A>C (p.Asp201Ala) n.670A>C n.435A>C c.512A>C (p.Asp171Ala) n.559A>C c.47A>C (p.Asp16Ala) c.*78A>C (n.*78A>C) c.670A>C | |
14 | g.87976430T= | CA2153381785 | GALC | c.680A= (p.Asp227=) c.611A= (p.Asp204=) c.602A= (p.Asp201=) n.670A= n.435A= c.512A= (p.Asp171=) n.559A= c.47A= (p.Asp16=) c.*78A= (n.*78A=) c.670A= | |
14 | g.87976431C>A | CA390749571 | GALC | c.679G>T (p.Asp227Tyr) c.610G>T (p.Asp204Tyr) c.601G>T (p.Asp201Tyr) n.669G>T n.434G>T c.511G>T (p.Asp171Tyr) n.558G>T c.46G>T (p.Asp16Tyr) c.*77G>T (n.*77G>T) c.669G>T | |
14 | g.87976431C>G | CA390749564 | GALC | c.679G>C (p.Asp227His) c.610G>C (p.Asp204His) c.601G>C (p.Asp201His) n.669G>C n.434G>C c.511G>C (p.Asp171His) n.558G>C c.46G>C (p.Asp16His) c.*77G>C (n.*77G>C) c.669G>C | ClinVar |
14 | g.87976431C>T | CA390749570 | GALC | c.679G>A (p.Asp227Asn) c.610G>A (p.Asp204Asn) c.601G>A (p.Asp201Asn) n.669G>A n.434G>A c.511G>A (p.Asp171Asn) n.558G>A c.46G>A (p.Asp16Asn) c.*77G>A (n.*77G>A) c.669G>A | |
14 | g.87976432A= | CA2153381786 | GALC | c.678T= (p.Ser226=) c.609T= (p.Ser203=) c.600T= (p.Ser200=) n.668T= n.433T= c.510T= (p.Ser170=) n.557T= c.45T= (p.Ser15=) c.*76T= (n.*76T=) c.668T= | |
14 | g.87976432A>C | CA390749577 | GALC | c.678T>G (p.Ser226Arg) c.609T>G (p.Ser203Arg) c.600T>G (p.Ser200Arg) n.668T>G n.433T>G c.510T>G (p.Ser170Arg) n.557T>G c.45T>G (p.Ser15Arg) c.*76T>G (n.*76T>G) c.668T>G | |
14 | g.87976432A>G | CA487366281 | GALC | c.678T>C (p.Ser226=) c.609T>C (p.Ser203=) c.600T>C (p.Ser200=) n.668T>C n.433T>C c.510T>C (p.Ser170=) n.557T>C c.45T>C (p.Ser15=) c.*76T>C (n.*76T>C) c.668T>C | ClinVar dbSNP gnomAD v4 |
14 | g.87976432A>T | CA390749579 | GALC | c.678T>A (p.Ser226Arg) c.609T>A (p.Ser203Arg) c.600T>A (p.Ser200Arg) n.668T>A n.433T>A c.510T>A (p.Ser170Arg) n.557T>A c.45T>A (p.Ser15Arg) c.*76T>A (n.*76T>A) c.668T>A | |
14 | g.87976433del | CA2697554058 | GALC | c.677del (p.Ser226MetfsTer25) c.608del (p.Ser203MetfsTer25) c.599del (p.Ser200MetfsTer25) n.667del n.432del c.509del (p.Ser170MetfsTer25) n.556del c.44del (p.Ser15MetfsTer25) c.*75del (n.*75del) c.667del | ClinVar |
14 | g.87976433C>A | CA390749581 | GALC | c.677G>T (p.Ser226Ile) c.608G>T (p.Ser203Ile) c.599G>T (p.Ser200Ile) n.667G>T n.432G>T c.509G>T (p.Ser170Ile) n.556G>T c.44G>T (p.Ser15Ile) c.*75G>T (n.*75G>T) c.667G>T | |
14 | g.87976433C>G | CA390749583 | GALC | c.677G>C (p.Ser226Thr) c.608G>C (p.Ser203Thr) c.599G>C (p.Ser200Thr) n.667G>C n.432G>C c.509G>C (p.Ser170Thr) n.556G>C c.44G>C (p.Ser15Thr) c.*75G>C (n.*75G>C) c.667G>C | |
14 | g.87976433C>T | CA390749584 | GALC | c.677G>A (p.Ser226Asn) c.608G>A (p.Ser203Asn) c.599G>A (p.Ser200Asn) n.667G>A n.432G>A c.509G>A (p.Ser170Asn) n.556G>A c.44G>A (p.Ser15Asn) c.*75G>A (n.*75G>A) c.667G>A | gnomAD v4 |
14 | g.87976434T>A | CA390749586 | GALC | c.676A>T (p.Ser226Cys) c.607A>T (p.Ser203Cys) c.598A>T (p.Ser200Cys) n.666A>T n.431A>T c.508A>T (p.Ser170Cys) n.555A>T c.43A>T (p.Ser15Cys) c.*74A>T (n.*74A>T) c.666A>T | |
14 | g.87976434T>C | CA264708342 | GALC | c.676A>G (p.Ser226Gly) c.607A>G (p.Ser203Gly) c.598A>G (p.Ser200Gly) n.666A>G n.431A>G c.508A>G (p.Ser170Gly) n.555A>G c.43A>G (p.Ser15Gly) c.*74A>G (n.*74A>G) c.666A>G | dbSNP gnomAD v4 |
14 | g.87976434T>G | CA390749587 | GALC | c.676A>C (p.Ser226Arg) c.607A>C (p.Ser203Arg) c.598A>C (p.Ser200Arg) n.666A>C n.431A>C c.508A>C (p.Ser170Arg) n.555A>C c.43A>C (p.Ser15Arg) c.*74A>C (n.*74A>C) c.666A>C | |
14 | g.87976434T= | CA2153381787 | GALC | c.676A= (p.Ser226=) c.607A= (p.Ser203=) c.598A= (p.Ser200=) n.666A= n.431A= c.508A= (p.Ser170=) n.555A= c.43A= (p.Ser15=) c.*74A= (n.*74A=) c.666A= | |
14 | g.87976435T>A | CA487366282 | GALC | c.675A>T (p.Ala225=) c.606A>T (p.Ala202=) c.597A>T (p.Ala199=) n.665A>T n.430A>T c.507A>T (p.Ala169=) n.554A>T c.42A>T (p.Ala14=) c.*73A>T (n.*73A>T) c.665A>T | |
14 | g.87976435T>C | CA487366283 | GALC | c.675A>G (p.Ala225=) c.606A>G (p.Ala202=) c.597A>G (p.Ala199=) n.665A>G n.430A>G c.507A>G (p.Ala169=) n.554A>G c.42A>G (p.Ala14=) c.*73A>G (n.*73A>G) c.665A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.87976435T>G | CA487366284 | GALC | c.675A>C (p.Ala225=) c.606A>C (p.Ala202=) c.597A>C (p.Ala199=) n.665A>C n.430A>C c.507A>C (p.Ala169=) n.554A>C c.42A>C (p.Ala14=) c.*73A>C (n.*73A>C) c.665A>C | |
14 | g.87976435T= | CA2153381788 | GALC | c.675A= (p.Ala225=) c.606A= (p.Ala202=) c.597A= (p.Ala199=) n.665A= n.430A= c.507A= (p.Ala169=) n.554A= c.42A= (p.Ala14=) c.*73A= (n.*73A=) c.665A= | |
14 | g.87976436G>A | CA390749588 | GALC | c.674C>T (p.Ala225Val) c.605C>T (p.Ala202Val) c.596C>T (p.Ala199Val) n.664C>T n.429C>T c.506C>T (p.Ala169Val) n.553C>T c.41C>T (p.Ala14Val) c.*72C>T (n.*72C>T) c.664C>T | |
14 | g.87976436G>C | CA7297280 | GALC | c.674C>G (p.Ala225Gly) c.605C>G (p.Ala202Gly) c.596C>G (p.Ala199Gly) n.664C>G n.429C>G c.506C>G (p.Ala169Gly) n.553C>G c.41C>G (p.Ala14Gly) c.*72C>G (n.*72C>G) c.664C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.87976436G= | CA2153381789 | GALC | c.674C= (p.Ala225=) c.605C= (p.Ala202=) c.596C= (p.Ala199=) n.664C= n.429C= c.506C= (p.Ala169=) n.553C= c.41C= (p.Ala14=) c.*72C= (n.*72C=) c.664C= | |
14 | g.87976436G>T | CA7297279 | GALC | c.674C>A (p.Ala225Glu) c.605C>A (p.Ala202Glu) c.596C>A (p.Ala199Glu) n.664C>A n.429C>A c.506C>A (p.Ala169Glu) n.553C>A c.41C>A (p.Ala14Glu) c.*72C>A (n.*72C>A) c.664C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87976436dup | CA1139663600 | GALC | c.674dup (p.Ser226LysfsTer2) c.605dup (p.Ser203LysfsTer2) c.596dup (p.Ser200LysfsTer2) n.664dup n.429dup c.506dup (p.Ser170LysfsTer2) n.553dup c.41dup (p.Ser15LysfsTer2) c.*72dup (n.*72dup) c.664dup | ClinVar dbSNP |
14 | g.87976437C>A | CA390749591 | GALC | c.673G>T (p.Ala225Ser) c.604G>T (p.Ala202Ser) c.595G>T (p.Ala199Ser) n.663G>T n.428G>T c.505G>T (p.Ala169Ser) n.552G>T c.40G>T (p.Ala14Ser) c.*71G>T (n.*71G>T) c.663G>T | |
14 | g.87976437C= | CA2153381790 | GALC | c.673G= (p.Ala225=) c.604G= (p.Ala202=) c.595G= (p.Ala199=) n.663G= n.428G= c.505G= (p.Ala169=) n.552G= c.40G= (p.Ala14=) c.*71G= (n.*71G=) c.663G= | |
14 | g.87976437C>G | CA390749593 | GALC | c.673G>C (p.Ala225Pro) c.604G>C (p.Ala202Pro) c.595G>C (p.Ala199Pro) n.663G>C n.428G>C c.505G>C (p.Ala169Pro) n.552G>C c.40G>C (p.Ala14Pro) c.*71G>C (n.*71G>C) c.663G>C | |
14 | g.87976437C>T | CA390749592 | GALC | c.673G>A (p.Ala225Thr) c.604G>A (p.Ala202Thr) c.595G>A (p.Ala199Thr) n.663G>A n.428G>A c.505G>A (p.Ala169Thr) n.552G>A c.40G>A (p.Ala14Thr) c.*71G>A (n.*71G>A) c.663G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87976438T>A | CA487366285 | GALC | c.672A>T (p.Ile224=) c.603A>T (p.Ile201=) c.594A>T (p.Ile198=) n.662A>T n.427A>T c.504A>T (p.Ile168=) n.551A>T c.39A>T (p.Ile13=) c.*70A>T (n.*70A>T) c.662A>T | dbSNP gnomAD v4 |
14 | g.87976438T>C | CA7297281 | GALC | c.672A>G (p.Ile224Met) c.603A>G (p.Ile201Met) c.594A>G (p.Ile198Met) n.662A>G n.427A>G c.504A>G (p.Ile168Met) n.551A>G c.39A>G (p.Ile13Met) c.*70A>G (n.*70A>G) c.662A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.87976438T>G | CA487366286 | GALC | c.672A>C (p.Ile224=) c.603A>C (p.Ile201=) c.594A>C (p.Ile198=) n.662A>C n.427A>C c.504A>C (p.Ile168=) n.551A>C c.39A>C (p.Ile13=) c.*70A>C (n.*70A>C) c.662A>C | |
14 | g.87976438T= | CA2153381791 | GALC | c.672A= (p.Ile224=) c.603A= (p.Ile201=) c.594A= (p.Ile198=) n.662A= n.427A= c.504A= (p.Ile168=) n.551A= c.39A= (p.Ile13=) c.*70A= (n.*70A=) c.662A= | |
14 | g.87976439A>C | CA390749594 | GALC | c.671T>G (p.Ile224Arg) c.602T>G (p.Ile201Arg) c.593T>G (p.Ile198Arg) n.661T>G n.426T>G c.503T>G (p.Ile168Arg) n.550T>G c.38T>G (p.Ile13Arg) c.*69T>G (n.*69T>G) c.661T>G | |
14 | g.87976439A>G | CA390749595 | GALC | c.671T>C (p.Ile224Thr) c.602T>C (p.Ile201Thr) c.593T>C (p.Ile198Thr) n.661T>C n.426T>C c.503T>C (p.Ile168Thr) n.550T>C c.38T>C (p.Ile13Thr) c.*69T>C (n.*69T>C) c.661T>C | gnomAD v4 |
14 | g.87976439A>T | CA390749596 | GALC | c.671T>A (p.Ile224Lys) c.602T>A (p.Ile201Lys) c.593T>A (p.Ile198Lys) n.661T>A n.426T>A c.503T>A (p.Ile168Lys) n.550T>A c.38T>A (p.Ile13Lys) c.*69T>A (n.*69T>A) c.661T>A | |
14 | g.87976440T>A | CA390749597 | GALC | c.670A>T (p.Ile224Leu) c.601A>T (p.Ile201Leu) c.592A>T (p.Ile198Leu) n.660A>T n.425A>T c.502A>T (p.Ile168Leu) n.549A>T c.37A>T (p.Ile13Leu) c.*68A>T (n.*68A>T) c.660A>T | |
14 | g.87976440T>C | CA7297282 | GALC | c.670A>G (p.Ile224Val) c.601A>G (p.Ile201Val) c.592A>G (p.Ile198Val) n.660A>G n.425A>G c.502A>G (p.Ile168Val) n.549A>G c.37A>G (p.Ile13Val) c.*68A>G (n.*68A>G) c.660A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.87976440T>G | CA390749599 | GALC | c.670A>C (p.Ile224Leu) c.601A>C (p.Ile201Leu) c.592A>C (p.Ile198Leu) n.660A>C n.425A>C c.502A>C (p.Ile168Leu) n.549A>C c.37A>C (p.Ile13Leu) c.*68A>C (n.*68A>C) c.660A>C | |
14 | g.87976440T= | CA2153381792 | GALC | c.670A= (p.Ile224=) c.601A= (p.Ile201=) c.592A= (p.Ile198=) n.660A= n.425A= c.502A= (p.Ile168=) n.549A= c.37A= (p.Ile13=) c.*68A= (n.*68A=) c.660A= | |
14 | g.87976441G>A | CA487366287 | GALC | c.669C>T (p.Ile223=) c.600C>T (p.Ile200=) c.591C>T (p.Ile197=) n.659C>T n.424C>T c.501C>T (p.Ile167=) n.548C>T c.36C>T (p.Ile12=) c.*67C>T (n.*67C>T) c.659C>T | COSMIC COSMIC |
14 | g.87976441G>C | CA390749600 | GALC | c.669C>G (p.Ile223Met) c.600C>G (p.Ile200Met) c.591C>G (p.Ile197Met) n.659C>G n.424C>G c.501C>G (p.Ile167Met) n.548C>G c.36C>G (p.Ile12Met) c.*67C>G (n.*67C>G) c.659C>G | |
14 | g.87976441G>T | CA487366288 | GALC | c.669C>A (p.Ile223=) c.600C>A (p.Ile200=) c.591C>A (p.Ile197=) n.659C>A n.424C>A c.501C>A (p.Ile167=) n.548C>A c.36C>A (p.Ile12=) c.*67C>A (n.*67C>A) c.659C>A | |
14 | g.87976442A>C | CA390749601 | GALC | c.668T>G (p.Ile223Ser) c.599T>G (p.Ile200Ser) c.590T>G (p.Ile197Ser) n.658T>G n.423T>G c.500T>G (p.Ile167Ser) n.547T>G c.35T>G (p.Ile12Ser) c.*66T>G (n.*66T>G) c.658T>G | |
14 | g.87976442A>G | CA390749603 | GALC | c.668T>C (p.Ile223Thr) c.599T>C (p.Ile200Thr) c.590T>C (p.Ile197Thr) n.658T>C n.423T>C c.500T>C (p.Ile167Thr) n.547T>C c.35T>C (p.Ile12Thr) c.*66T>C (n.*66T>C) c.658T>C | gnomAD v4 |
14 | g.87976442A>T | CA390749606 | GALC | c.668T>A (p.Ile223Asn) c.599T>A (p.Ile200Asn) c.590T>A (p.Ile197Asn) n.658T>A n.423T>A c.500T>A (p.Ile167Asn) n.547T>A c.35T>A (p.Ile12Asn) c.*66T>A (n.*66T>A) c.658T>A | |
14 | g.87976443T>A | CA390749609 | GALC | c.667A>T (p.Ile223Phe) c.598A>T (p.Ile200Phe) c.589A>T (p.Ile197Phe) n.657A>T n.422A>T c.499A>T (p.Ile167Phe) n.546A>T c.34A>T (p.Ile12Phe) c.*65A>T (n.*65A>T) c.657A>T | |
14 | g.87976443T>C | CA390749612 | GALC | c.667A>G (p.Ile223Val) c.598A>G (p.Ile200Val) c.589A>G (p.Ile197Val) n.657A>G n.422A>G c.499A>G (p.Ile167Val) n.546A>G c.34A>G (p.Ile12Val) c.*65A>G (n.*65A>G) c.657A>G | dbSNP |
14 | g.87976443T>G | CA390749608 | GALC | c.667A>C (p.Ile223Leu) c.598A>C (p.Ile200Leu) c.589A>C (p.Ile197Leu) n.657A>C n.422A>C c.499A>C (p.Ile167Leu) n.546A>C c.34A>C (p.Ile12Leu) c.*65A>C (n.*65A>C) c.657A>C | gnomAD v4 |
14 | g.87976443T= | CA2153381793 | GALC | c.667A= (p.Ile223=) c.598A= (p.Ile200=) c.589A= (p.Ile197=) n.657A= n.422A= c.499A= (p.Ile167=) n.546A= c.34A= (p.Ile12=) c.*65A= (n.*65A=) c.657A= | |
14 | g.87976444T>A | CA390749613 | GALC | c.666A>T (p.Lys222Asn) c.597A>T (p.Lys199Asn) c.588A>T (p.Lys196Asn) n.656A>T n.421A>T c.498A>T (p.Lys166Asn) n.545A>T c.33A>T (p.Lys11Asn) c.*64A>T (n.*64A>T) c.656A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87976444T>C | CA487366289 | GALC | c.666A>G (p.Lys222=) c.597A>G (p.Lys199=) c.588A>G (p.Lys196=) n.656A>G n.421A>G c.498A>G (p.Lys166=) n.545A>G c.33A>G (p.Lys11=) c.*64A>G (n.*64A>G) c.656A>G | |
14 | g.87976444T>G | CA390749616 | GALC | c.666A>C (p.Lys222Asn) c.597A>C (p.Lys199Asn) c.588A>C (p.Lys196Asn) n.656A>C n.421A>C c.498A>C (p.Lys166Asn) n.545A>C c.33A>C (p.Lys11Asn) c.*64A>C (n.*64A>C) c.656A>C | |
14 | g.87976444T= | CA2153381794 | GALC | c.666A= (p.Lys222=) c.597A= (p.Lys199=) c.588A= (p.Lys196=) n.656A= n.421A= c.498A= (p.Lys166=) n.545A= c.33A= (p.Lys11=) c.*64A= (n.*64A=) c.656A= | |
14 | g.87976445T>A | CA390749618 | GALC | c.665A>T (p.Lys222Ile) c.596A>T (p.Lys199Ile) c.587A>T (p.Lys196Ile) n.655A>T n.420A>T c.497A>T (p.Lys166Ile) n.544A>T c.32A>T (p.Lys11Ile) c.*63A>T (n.*63A>T) c.655A>T | |
14 | g.87976445T>C | CA390749619 | GALC | c.665A>G (p.Lys222Arg) c.596A>G (p.Lys199Arg) c.587A>G (p.Lys196Arg) n.655A>G n.420A>G c.497A>G (p.Lys166Arg) n.544A>G c.32A>G (p.Lys11Arg) c.*63A>G (n.*63A>G) c.655A>G | gnomAD v4 |
14 | g.87976445T>G | CA390749620 | GALC | c.665A>C (p.Lys222Thr) c.596A>C (p.Lys199Thr) c.587A>C (p.Lys196Thr) n.655A>C n.420A>C c.497A>C (p.Lys166Thr) n.544A>C c.32A>C (p.Lys11Thr) c.*63A>C (n.*63A>C) c.655A>C | |
14 | g.87976446T>A | CA390749621 | GALC | c.664A>T (p.Lys222Ter) c.595A>T (p.Lys199Ter) c.586A>T (p.Lys196Ter) n.654A>T n.419A>T c.496A>T (p.Lys166Ter) n.543A>T c.31A>T (p.Lys11Ter) c.*62A>T (n.*62A>T) c.654A>T | |
14 | g.87976446T>C | CA390749622 | GALC | c.664A>G (p.Lys222Glu) c.595A>G (p.Lys199Glu) c.586A>G (p.Lys196Glu) n.654A>G n.419A>G c.496A>G (p.Lys166Glu) n.543A>G c.31A>G (p.Lys11Glu) c.*62A>G (n.*62A>G) c.654A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.87976446T>G | CA390749624 | GALC | c.664A>C (p.Lys222Gln) c.595A>C (p.Lys199Gln) c.586A>C (p.Lys196Gln) n.654A>C n.419A>C c.496A>C (p.Lys166Gln) n.543A>C c.31A>C (p.Lys11Gln) c.*62A>C (n.*62A>C) c.654A>C | |
14 | g.87976446T= | CA2153381795 | GALC | c.664A= (p.Lys222=) c.595A= (p.Lys199=) c.586A= (p.Lys196=) n.654A= n.419A= c.496A= (p.Lys166=) n.543A= c.31A= (p.Lys11=) c.*62A= (n.*62A=) c.654A= | |
14 | g.87976447C>A | CA487366292 | GALC | c.663G>T (p.Val221=) c.594G>T (p.Val198=) c.585G>T (p.Val195=) n.653G>T n.418G>T c.495G>T (p.Val165=) n.542G>T c.30G>T (p.Val10=) c.*61G>T (n.*61G>T) c.653G>T | |
14 | g.87976447C= | CA2153381796 | GALC | c.663G= (p.Val221=) c.594G= (p.Val198=) c.585G= (p.Val195=) n.653G= n.418G= c.495G= (p.Val165=) n.542G= c.30G= (p.Val10=) c.*61G= (n.*61G=) c.653G= | |
14 | g.87976447C>G | CA487366291 | GALC | c.663G>C (p.Val221=) c.594G>C (p.Val198=) c.585G>C (p.Val195=) n.653G>C n.418G>C c.495G>C (p.Val165=) n.542G>C c.30G>C (p.Val10=) c.*61G>C (n.*61G>C) c.653G>C | gnomAD v4 |
14 | g.87976447C>T | CA487366290 | GALC | c.663G>A (p.Val221=) c.594G>A (p.Val198=) c.585G>A (p.Val195=) n.653G>A n.418G>A c.495G>A (p.Val165=) n.542G>A c.30G>A (p.Val10=) c.*61G>A (n.*61G>A) c.653G>A | dbSNP |
14 | g.87976448A>C | CA390749625 | GALC | c.662T>G (p.Val221Gly) c.593T>G (p.Val198Gly) c.584T>G (p.Val195Gly) n.652T>G n.417T>G c.494T>G (p.Val165Gly) n.541T>G c.29T>G (p.Val10Gly) c.*60T>G (n.*60T>G) c.652T>G | |
14 | g.87976448A>G | CA390749626 | GALC | c.662T>C (p.Val221Ala) c.593T>C (p.Val198Ala) c.584T>C (p.Val195Ala) n.652T>C n.417T>C c.494T>C (p.Val165Ala) n.541T>C c.29T>C (p.Val10Ala) c.*60T>C (n.*60T>C) c.652T>C | |
14 | g.87976448A>T | CA390749627 | GALC | c.662T>A (p.Val221Glu) c.593T>A (p.Val198Glu) c.584T>A (p.Val195Glu) n.652T>A n.417T>A c.494T>A (p.Val165Glu) n.541T>A c.29T>A (p.Val10Glu) c.*60T>A (n.*60T>A) c.652T>A | |
14 | g.87976449C>A | CA390749634 | GALC | c.661G>T (p.Val221Leu) c.592G>T (p.Val198Leu) c.583G>T (p.Val195Leu) n.651G>T n.416G>T c.493G>T (p.Val165Leu) n.540G>T c.28G>T (p.Val10Leu) c.*59G>T (n.*59G>T) c.651G>T | |
14 | g.87976449C>G | CA390749636 | GALC | c.661G>C (p.Val221Leu) c.592G>C (p.Val198Leu) c.583G>C (p.Val195Leu) n.651G>C n.416G>C c.493G>C (p.Val165Leu) n.540G>C c.28G>C (p.Val10Leu) c.*59G>C (n.*59G>C) c.651G>C | |
14 | g.87976449C>T | CA390749644 | GALC | c.661G>A (p.Val221Met) c.592G>A (p.Val198Met) c.583G>A (p.Val195Met) n.651G>A n.416G>A c.493G>A (p.Val165Met) n.540G>A c.28G>A (p.Val10Met) c.*59G>A (n.*59G>A) c.651G>A | |
14 | g.87976450T>A | CA487366293 | GALC | c.660A>T (p.Arg220=) c.591A>T (p.Arg197=) c.582A>T (p.Arg194=) n.650A>T n.415A>T c.492A>T (p.Arg164=) n.539A>T c.27A>T (p.Arg9=) c.*58A>T (n.*58A>T) c.650A>T | |
14 | g.87976450T>C | CA487366295 | GALC | c.660A>G (p.Arg220=) c.591A>G (p.Arg197=) c.582A>G (p.Arg194=) n.650A>G n.415A>G c.492A>G (p.Arg164=) n.539A>G c.27A>G (p.Arg9=) c.*58A>G (n.*58A>G) c.650A>G | |
14 | g.87976450T>G | CA487366294 | GALC | c.660A>C (p.Arg220=) c.591A>C (p.Arg197=) c.582A>C (p.Arg194=) n.650A>C n.415A>C c.492A>C (p.Arg164=) n.539A>C c.27A>C (p.Arg9=) c.*58A>C (n.*58A>C) c.650A>C | |
14 | g.87976451C>A | CA390749648 | GALC | c.659G>T (p.Arg220Leu) c.590G>T (p.Arg197Leu) c.581G>T (p.Arg194Leu) n.649G>T n.414G>T c.491G>T (p.Arg164Leu) n.538G>T c.26G>T (p.Arg9Leu) c.*57G>T (n.*57G>T) c.649G>T | |
14 | g.87976451C= | CA2153381797 | GALC | c.659G= (p.Arg220=) c.590G= (p.Arg197=) c.581G= (p.Arg194=) n.649G= n.414G= c.491G= (p.Arg164=) n.538G= c.26G= (p.Arg9=) c.*57G= (n.*57G=) c.649G= | |
14 | g.87976451C>G | CA390749647 | GALC | c.659G>C (p.Arg220Pro) c.590G>C (p.Arg197Pro) c.581G>C (p.Arg194Pro) n.649G>C n.414G>C c.491G>C (p.Arg164Pro) n.538G>C c.26G>C (p.Arg9Pro) c.*57G>C (n.*57G>C) c.649G>C | |
14 | g.87976451C>T | CA206409 | GALC | c.659G>A (p.Arg220Gln) c.590G>A (p.Arg197Gln) c.581G>A (p.Arg194Gln) n.649G>A n.414G>A c.491G>A (p.Arg164Gln) n.538G>A c.26G>A (p.Arg9Gln) c.*57G>A (n.*57G>A) c.649G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.87976452G>A | CA274279 | GALC | c.658C>T (p.Arg220Ter) c.589C>T (p.Arg197Ter) c.580C>T (p.Arg194Ter) n.648C>T n.413C>T c.490C>T (p.Arg164Ter) n.537C>T c.25C>T (p.Arg9Ter) c.*56C>T (n.*56C>T) c.648C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.87976452G>C | CA390749652 | GALC | c.658C>G (p.Arg220Gly) c.589C>G (p.Arg197Gly) c.580C>G (p.Arg194Gly) n.648C>G n.413C>G c.490C>G (p.Arg164Gly) n.537C>G c.25C>G (p.Arg9Gly) c.*56C>G (n.*56C>G) c.648C>G | gnomAD v4 |
14 | g.87976452G= | CA2153381798 | GALC | c.658C= (p.Arg220=) c.589C= (p.Arg197=) c.580C= (p.Arg194=) n.648C= n.413C= c.490C= (p.Arg164=) n.537C= c.25C= (p.Arg9=) c.*56C= (n.*56C=) c.648C= | |
14 | g.87976452G>T | CA487366296 | GALC | c.658C>A (p.Arg220=) c.589C>A (p.Arg197=) c.580C>A (p.Arg194=) n.648C>A n.413C>A c.490C>A (p.Arg164=) n.537C>A c.25C>A (p.Arg9=) c.*56C>A (n.*56C>A) c.648C>A | |
14 | g.87976453C>A | CA390749653 | GALC | c.657G>T (p.Gln219His) c.588G>T (p.Gln196His) c.579G>T (p.Gln193His) n.647G>T n.412G>T c.489G>T (p.Gln163His) n.536G>T c.24G>T (p.Gln8His) c.*55G>T (n.*55G>T) c.647G>T | |
14 | g.87976453C>G | CA390749654 | GALC | c.657G>C (p.Gln219His) c.588G>C (p.Gln196His) c.579G>C (p.Gln193His) n.647G>C n.412G>C c.489G>C (p.Gln163His) n.536G>C c.24G>C (p.Gln8His) c.*55G>C (n.*55G>C) c.647G>C | |
14 | g.87976453C>T | CA487366297 | GALC | c.657G>A (p.Gln219=) c.588G>A (p.Gln196=) c.579G>A (p.Gln193=) n.647G>A n.412G>A c.489G>A (p.Gln163=) n.536G>A c.24G>A (p.Gln8=) c.*55G>A (n.*55G>A) c.647G>A | |
14 | g.87976455_87976462del | CA2695219637 | GALC | c.650_657del (p.Gly217AlafsTer8) c.581_588del (p.Gly194AlafsTer8) c.572_579del (p.Gly191AlafsTer8) n.640_647del n.405_412del c.482_489del (p.Gly161AlafsTer8) n.529_536del c.17_24del (p.Gly6AlafsTer8) c.*48_*55del (n.*48_*55del) c.640_647del | |
14 | g.87976454T>A | CA390749655 | GALC | c.656A>T (p.Gln219Leu) c.587A>T (p.Gln196Leu) c.578A>T (p.Gln193Leu) n.646A>T n.411A>T c.488A>T (p.Gln163Leu) n.535A>T c.23A>T (p.Gln8Leu) c.*54A>T (n.*54A>T) c.646A>T | |
14 | g.87976454T>C | CA390749656 | GALC | c.656A>G (p.Gln219Arg) c.587A>G (p.Gln196Arg) c.578A>G (p.Gln193Arg) n.646A>G n.411A>G c.488A>G (p.Gln163Arg) n.535A>G c.23A>G (p.Gln8Arg) c.*54A>G (n.*54A>G) c.646A>G | gnomAD v4 |
14 | g.87976454T>G | CA390749658 | GALC | c.656A>C (p.Gln219Pro) c.587A>C (p.Gln196Pro) c.578A>C (p.Gln193Pro) n.646A>C n.411A>C c.488A>C (p.Gln163Pro) n.535A>C c.23A>C (p.Gln8Pro) c.*54A>C (n.*54A>C) c.646A>C | |
14 | g.87976455G>A | CA390749660 | GALC | c.655C>T (p.Gln219Ter) c.586C>T (p.Gln196Ter) c.577C>T (p.Gln193Ter) n.645C>T n.410C>T c.487C>T (p.Gln163Ter) n.534C>T c.22C>T (p.Gln8Ter) c.*53C>T (n.*53C>T) c.645C>T | ClinVar gnomAD v4 |
14 | g.87976455G>C | CA390749662 | GALC | c.655C>G (p.Gln219Glu) c.586C>G (p.Gln196Glu) c.577C>G (p.Gln193Glu) n.645C>G n.410C>G c.487C>G (p.Gln163Glu) n.534C>G c.22C>G (p.Gln8Glu) c.*53C>G (n.*53C>G) c.645C>G | |
14 | g.87976455G>T | CA390749663 | GALC | c.655C>A (p.Gln219Lys) c.586C>A (p.Gln196Lys) c.577C>A (p.Gln193Lys) n.645C>A n.410C>A c.487C>A (p.Gln163Lys) n.534C>A c.22C>A (p.Gln8Lys) c.*53C>A (n.*53C>A) c.645C>A | |
14 | g.87976456del | CA2695219638 | GALC | c.655del (p.Gln219SerfsTer3) c.586del (p.Gln196SerfsTer3) c.577del (p.Gln193SerfsTer3) n.645del n.410del c.487del (p.Gln163SerfsTer3) n.534del c.22del (p.Gln8SerfsTer3) c.*53del (n.*53del) c.645del | |
14 | g.87976456G>A | CA487366298 | GALC | c.654C>T (p.Leu218=) c.585C>T (p.Leu195=) c.576C>T (p.Leu192=) n.644C>T n.409C>T c.486C>T (p.Leu162=) n.533C>T c.21C>T (p.Leu7=) c.*52C>T (n.*52C>T) c.644C>T | ClinVar dbSNP gnomAD v4 |
14 | g.87976456G>C | CA487366299 | GALC | c.654C>G (p.Leu218=) c.585C>G (p.Leu195=) c.576C>G (p.Leu192=) n.644C>G n.409C>G c.486C>G (p.Leu162=) n.533C>G c.21C>G (p.Leu7=) c.*52C>G (n.*52C>G) c.644C>G | |
14 | g.87976456G>T | CA487366300 | GALC | c.654C>A (p.Leu218=) c.585C>A (p.Leu195=) c.576C>A (p.Leu192=) n.644C>A n.409C>A c.486C>A (p.Leu162=) n.533C>A c.21C>A (p.Leu7=) c.*52C>A (n.*52C>A) c.644C>A | |
14 | g.87976457A>C | CA390749664 | GALC | c.653T>G (p.Leu218Arg) c.584T>G (p.Leu195Arg) c.575T>G (p.Leu192Arg) n.643T>G n.408T>G c.485T>G (p.Leu162Arg) n.532T>G c.20T>G (p.Leu7Arg) c.*51T>G (n.*51T>G) c.643T>G | |
14 | g.87976457A>G | CA390749665 | GALC | c.653T>C (p.Leu218Pro) c.584T>C (p.Leu195Pro) c.575T>C (p.Leu192Pro) n.643T>C n.408T>C c.485T>C (p.Leu162Pro) n.532T>C c.20T>C (p.Leu7Pro) c.*51T>C (n.*51T>C) c.643T>C | gnomAD v4 |
14 | g.87976457A>T | CA390749667 | GALC | c.653T>A (p.Leu218His) c.584T>A (p.Leu195His) c.575T>A (p.Leu192His) n.643T>A n.408T>A c.485T>A (p.Leu162His) n.532T>A c.20T>A (p.Leu7His) c.*51T>A (n.*51T>A) c.643T>A | |
14 | g.87976458G>A | CA390749675 | GALC | c.652C>T (p.Leu218Phe) c.583C>T (p.Leu195Phe) c.574C>T (p.Leu192Phe) n.642C>T n.407C>T c.484C>T (p.Leu162Phe) n.531C>T c.19C>T (p.Leu7Phe) c.*50C>T (n.*50C>T) c.642C>T | |
14 | g.87976458G>C | CA390749673 | GALC | c.652C>G (p.Leu218Val) c.583C>G (p.Leu195Val) c.574C>G (p.Leu192Val) n.642C>G n.407C>G c.484C>G (p.Leu162Val) n.531C>G c.19C>G (p.Leu7Val) c.*50C>G (n.*50C>G) c.642C>G | |
14 | g.87976458G>T | CA390749671 | GALC | c.652C>A (p.Leu218Ile) c.583C>A (p.Leu195Ile) c.574C>A (p.Leu192Ile) n.642C>A n.407C>A c.484C>A (p.Leu162Ile) n.531C>A c.19C>A (p.Leu7Ile) c.*50C>A (n.*50C>A) c.642C>A | |
14 | g.87976459A= | CA2153381799 | GALC | c.651T= (p.Gly217=) c.582T= (p.Gly194=) c.573T= (p.Gly191=) n.641T= n.406T= c.483T= (p.Gly161=) n.530T= c.18T= (p.Gly6=) c.*49T= (n.*49T=) c.641T= | |
14 | g.87976459A>C | CA487366301 | GALC | c.651T>G (p.Gly217=) c.582T>G (p.Gly194=) c.573T>G (p.Gly191=) n.641T>G n.406T>G c.483T>G (p.Gly161=) n.530T>G c.18T>G (p.Gly6=) c.*49T>G (n.*49T>G) c.641T>G | dbSNP gnomAD v4 |
14 | g.87976459A>G | CA487366302 | GALC | c.651T>C (p.Gly217=) c.582T>C (p.Gly194=) c.573T>C (p.Gly191=) n.641T>C n.406T>C c.483T>C (p.Gly161=) n.530T>C c.18T>C (p.Gly6=) c.*49T>C (n.*49T>C) c.641T>C | |
14 | g.87976459A>T | CA487366303 | GALC | c.651T>A (p.Gly217=) c.582T>A (p.Gly194=) c.573T>A (p.Gly191=) n.641T>A n.406T>A c.483T>A (p.Gly161=) n.530T>A c.18T>A (p.Gly6=) c.*49T>A (n.*49T>A) c.641T>A | |
14 | g.87976460C>A | CA390749678 | GALC | c.650G>T (p.Gly217Val) c.581G>T (p.Gly194Val) c.572G>T (p.Gly191Val) n.640G>T n.405G>T c.482G>T (p.Gly161Val) n.529G>T c.17G>T (p.Gly6Val) c.*48G>T (n.*48G>T) c.640G>T | |
14 | g.87976460C= | CA2153381800 | GALC | c.650G= (p.Gly217=) c.581G= (p.Gly194=) c.572G= (p.Gly191=) n.640G= n.405G= c.482G= (p.Gly161=) n.529G= c.17G= (p.Gly6=) c.*48G= (n.*48G=) c.640G= | |
14 | g.87976460C>G | CA390749680 | GALC | c.650G>C (p.Gly217Ala) c.581G>C (p.Gly194Ala) c.572G>C (p.Gly191Ala) n.640G>C n.405G>C c.482G>C (p.Gly161Ala) n.529G>C c.17G>C (p.Gly6Ala) c.*48G>C (n.*48G>C) c.640G>C | |
14 | g.87976460C>T | CA390749679 | GALC | c.650G>A (p.Gly217Asp) c.581G>A (p.Gly194Asp) c.572G>A (p.Gly191Asp) n.640G>A n.405G>A c.482G>A (p.Gly161Asp) n.529G>A c.17G>A (p.Gly6Asp) c.*48G>A (n.*48G>A) c.640G>A | dbSNP |
14 | g.87976461C>A | CA390749681 | GALC | c.649G>T (p.Gly217Cys) c.580G>T (p.Gly194Cys) c.571G>T (p.Gly191Cys) n.639G>T n.404G>T c.481G>T (p.Gly161Cys) n.528G>T c.16G>T (p.Gly6Cys) c.*47G>T (n.*47G>T) c.639G>T | |
14 | g.87976461C>G | CA390749688 | GALC | c.649G>C (p.Gly217Arg) c.580G>C (p.Gly194Arg) c.571G>C (p.Gly191Arg) n.639G>C n.404G>C c.481G>C (p.Gly161Arg) n.528G>C c.16G>C (p.Gly6Arg) c.*47G>C (n.*47G>C) c.639G>C | |
14 | g.87976461C>T | CA390749686 | GALC | c.649G>A (p.Gly217Ser) c.580G>A (p.Gly194Ser) c.571G>A (p.Gly191Ser) n.639G>A n.404G>A c.481G>A (p.Gly161Ser) n.528G>A c.16G>A (p.Gly6Ser) c.*47G>A (n.*47G>A) c.639G>A | |
14 | g.87976462T>A | CA390749691 | GALC | c.648A>T (p.Gln216His) c.579A>T (p.Gln193His) c.570A>T (p.Gln190His) n.638A>T n.403A>T c.480A>T (p.Gln160His) n.527A>T c.15A>T (p.Gln5His) c.*46A>T (n.*46A>T) c.638A>T | |
14 | g.87976462T>C | CA487366304 | GALC | c.648A>G (p.Gln216=) c.579A>G (p.Gln193=) c.570A>G (p.Gln190=) n.638A>G n.403A>G c.480A>G (p.Gln160=) n.527A>G c.15A>G (p.Gln5=) c.*46A>G (n.*46A>G) c.638A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.87976462T>G | CA7297283 | GALC | c.648A>C (p.Gln216His) c.579A>C (p.Gln193His) c.570A>C (p.Gln190His) n.638A>C n.403A>C c.480A>C (p.Gln160His) n.527A>C c.15A>C (p.Gln5His) c.*46A>C (n.*46A>C) c.638A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87976462T= | CA2153381801 | GALC | c.648A= (p.Gln216=) c.579A= (p.Gln193=) c.570A= (p.Gln190=) n.638A= n.403A= c.480A= (p.Gln160=) n.527A= c.15A= (p.Gln5=) c.*46A= (n.*46A=) c.638A= | |
14 | g.87976463T>A | CA390749693 | GALC | c.647A>T (p.Gln216Leu) c.578A>T (p.Gln193Leu) c.569A>T (p.Gln190Leu) n.637A>T n.402A>T c.479A>T (p.Gln160Leu) n.526A>T c.14A>T (p.Gln5Leu) c.*45A>T (n.*45A>T) c.637A>T | |
14 | g.87976463T>C | CA390749695 | GALC | c.647A>G (p.Gln216Arg) c.578A>G (p.Gln193Arg) c.569A>G (p.Gln190Arg) n.637A>G n.402A>G c.479A>G (p.Gln160Arg) n.526A>G c.14A>G (p.Gln5Arg) c.*45A>G (n.*45A>G) c.637A>G | |
14 | g.87976463T>G | CA390749696 | GALC | c.647A>C (p.Gln216Pro) c.578A>C (p.Gln193Pro) c.569A>C (p.Gln190Pro) n.637A>C n.402A>C c.479A>C (p.Gln160Pro) n.526A>C c.14A>C (p.Gln5Pro) c.*45A>C (n.*45A>C) c.637A>C | |
14 | g.87976463_87976464del | CA2580088851 | GALC | c.646_647del (p.Gln216ArgfsTer11) c.577_578del (p.Gln193ArgfsTer11) c.568_569del (p.Gln190ArgfsTer11) n.636_637del n.401_402del c.478_479del (p.Gln160ArgfsTer11) n.525_526del c.13_14del (p.Gln5ArgfsTer11) c.*44_*45del (n.*44_*45del) c.636_637del | ClinVar |
14 | g.87976464G>A | CA390749699 | GALC | c.646C>T (p.Gln216Ter) c.577C>T (p.Gln193Ter) c.568C>T (p.Gln190Ter) n.636C>T n.401C>T c.478C>T (p.Gln160Ter) n.525C>T c.13C>T (p.Gln5Ter) c.*44C>T (n.*44C>T) c.636C>T | |
14 | g.87976464G>C | CA390749700 | GALC | c.646C>G (p.Gln216Glu) c.577C>G (p.Gln193Glu) c.568C>G (p.Gln190Glu) n.636C>G n.401C>G c.478C>G (p.Gln160Glu) n.525C>G c.13C>G (p.Gln5Glu) c.*44C>G (n.*44C>G) c.636C>G | |
14 | g.87976464G>T | CA390749702 | GALC | c.646C>A (p.Gln216Lys) c.577C>A (p.Gln193Lys) c.568C>A (p.Gln190Lys) n.636C>A n.401C>A c.478C>A (p.Gln160Lys) n.525C>A c.13C>A (p.Gln5Lys) c.*44C>A (n.*44C>A) c.636C>A | gnomAD v4 |
14 | g.87976465del | CA2580088853 | GALC | c.645del (p.Gln216LysfsTer6) c.576del (p.Gln193LysfsTer6) c.567del (p.Gln190LysfsTer6) n.635del n.400del c.477del (p.Gln160LysfsTer6) n.524del c.12del (p.Gln5LysfsTer6) c.*43del (n.*43del) c.635del | ClinVar |
14 | g.87976465A= | CA2153381802 | GALC | c.645T= (p.Tyr215=) c.576T= (p.Tyr192=) c.567T= (p.Tyr189=) n.635T= n.400T= c.477T= (p.Tyr159=) n.524T= c.12T= (p.Tyr4=) c.*43T= (n.*43T=) c.635T= | |
14 | g.87976465A>C | CA390749704 | GALC | c.645T>G (p.Tyr215Ter) c.576T>G (p.Tyr192Ter) c.567T>G (p.Tyr189Ter) n.635T>G n.400T>G c.477T>G (p.Tyr159Ter) n.524T>G c.12T>G (p.Tyr4Ter) c.*43T>G (n.*43T>G) c.635T>G | |
14 | g.87976465A>G | CA487366305 | GALC | c.645T>C (p.Tyr215=) c.576T>C (p.Tyr192=) c.567T>C (p.Tyr189=) n.635T>C n.400T>C c.477T>C (p.Tyr159=) n.524T>C c.12T>C (p.Tyr4=) c.*43T>C (n.*43T>C) c.635T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87976465A>T | CA390749706 | GALC | c.645T>A (p.Tyr215Ter) c.576T>A (p.Tyr192Ter) c.567T>A (p.Tyr189Ter) n.635T>A n.400T>A c.477T>A (p.Tyr159Ter) n.524T>A c.12T>A (p.Tyr4Ter) c.*43T>A (n.*43T>A) c.635T>A | |
14 | g.87976466T>A | CA390749712 | GALC | c.644A>T (p.Tyr215Phe) c.575A>T (p.Tyr192Phe) c.566A>T (p.Tyr189Phe) n.634A>T n.399A>T c.476A>T (p.Tyr159Phe) n.523A>T c.11A>T (p.Tyr4Phe) c.*42A>T (n.*42A>T) c.634A>T | |
14 | g.87976466T>C | CA390749711 | GALC | c.644A>G (p.Tyr215Cys) c.575A>G (p.Tyr192Cys) c.566A>G (p.Tyr189Cys) n.634A>G n.399A>G c.476A>G (p.Tyr159Cys) n.523A>G c.11A>G (p.Tyr4Cys) c.*42A>G (n.*42A>G) c.634A>G | |
14 | g.87976466T>G | CA390749709 | GALC | c.644A>C (p.Tyr215Ser) c.575A>C (p.Tyr192Ser) c.566A>C (p.Tyr189Ser) n.634A>C n.399A>C c.476A>C (p.Tyr159Ser) n.523A>C c.11A>C (p.Tyr4Ser) c.*42A>C (n.*42A>C) c.634A>C | |
14 | g.87976467A>C | CA390749714 | GALC | c.643T>G (p.Tyr215Asp) c.574T>G (p.Tyr192Asp) c.565T>G (p.Tyr189Asp) n.633T>G n.398T>G c.475T>G (p.Tyr159Asp) n.522T>G c.10T>G (p.Tyr4Asp) c.*41T>G (n.*41T>G) c.633T>G | |
14 | g.87976467A>G | CA390749715 | GALC | c.643T>C (p.Tyr215His) c.574T>C (p.Tyr192His) c.565T>C (p.Tyr189His) n.633T>C n.398T>C c.475T>C (p.Tyr159His) n.522T>C c.10T>C (p.Tyr4His) c.*41T>C (n.*41T>C) c.633T>C | |
14 | g.87976467A>T | CA390749717 | GALC | c.643T>A (p.Tyr215Asn) c.574T>A (p.Tyr192Asn) c.565T>A (p.Tyr189Asn) n.633T>A n.398T>A c.475T>A (p.Tyr159Asn) n.522T>A c.10T>A (p.Tyr4Asn) c.*41T>A (n.*41T>A) c.633T>A | |
14 | g.87976468A>C | CA390749719 | GALC | c.642T>G (p.Asn214Lys) c.573T>G (p.Asn191Lys) c.564T>G (p.Asn188Lys) n.632T>G n.397T>G c.474T>G (p.Asn158Lys) n.521T>G c.9T>G (p.Asn3Lys) c.*40T>G (n.*40T>G) c.632T>G | |
14 | g.87976468A>G | CA487366306 | GALC | c.642T>C (p.Asn214=) c.573T>C (p.Asn191=) c.564T>C (p.Asn188=) n.632T>C n.397T>C c.474T>C (p.Asn158=) n.521T>C c.9T>C (p.Asn3=) c.*40T>C (n.*40T>C) c.632T>C | |
14 | g.87976468A>T | CA390749721 | GALC | c.642T>A (p.Asn214Lys) c.573T>A (p.Asn191Lys) c.564T>A (p.Asn188Lys) n.632T>A n.397T>A c.474T>A (p.Asn158Lys) n.521T>A c.9T>A (p.Asn3Lys) c.*40T>A (n.*40T>A) c.632T>A | |
14 | g.87976469T>A | CA390749726 | GALC | c.641A>T (p.Asn214Ile) c.572A>T (p.Asn191Ile) c.563A>T (p.Asn188Ile) n.631A>T n.396A>T c.473A>T (p.Asn158Ile) n.520A>T c.8A>T (p.Asn3Ile) c.*39A>T (n.*39A>T) c.631A>T | |
14 | g.87976469T>C | CA390749728 | GALC | c.641A>G (p.Asn214Ser) c.572A>G (p.Asn191Ser) c.563A>G (p.Asn188Ser) n.631A>G n.396A>G c.473A>G (p.Asn158Ser) n.520A>G c.8A>G (p.Asn3Ser) c.*39A>G (n.*39A>G) c.631A>G | gnomAD v4 |
14 | g.87976469T>G | CA390749730 | GALC | c.641A>C (p.Asn214Thr) c.572A>C (p.Asn191Thr) c.563A>C (p.Asn188Thr) n.631A>C n.396A>C c.473A>C (p.Asn158Thr) n.520A>C c.8A>C (p.Asn3Thr) c.*39A>C (n.*39A>C) c.631A>C |