| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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= |