| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87968386C>A | CA390747845 | GALC | c.857G>T (p.Gly286Val) c.788G>T (p.Gly263Val) c.779G>T (p.Gly260Val) n.847G>T c.689G>T (p.Gly230Val) c.224G>T (p.Gly75Val) c.*255G>T (n.*255G>T) c.847G>T | COSMIC COSMIC COSMIC |
| 14 | g.87968386C= | CA2153346453 | GALC | c.857G= (p.Gly286=) c.788G= (p.Gly263=) c.779G= (p.Gly260=) n.847G= c.689G= (p.Gly230=) c.224G= (p.Gly75=) c.*255G= (n.*255G=) c.847G= | |
| 14 | g.87968386C>G | CA390747847 | GALC | c.857G>C (p.Gly286Ala) c.788G>C (p.Gly263Ala) c.779G>C (p.Gly260Ala) n.847G>C c.689G>C (p.Gly230Ala) c.224G>C (p.Gly75Ala) c.*255G>C (n.*255G>C) c.847G>C | |
| 14 | g.87968386C>T | CA259867 | GALC | c.857G>A (p.Gly286Asp) c.788G>A (p.Gly263Asp) c.779G>A (p.Gly260Asp) n.847G>A c.689G>A (p.Gly230Asp) c.224G>A (p.Gly75Asp) c.*255G>A (n.*255G>A) c.847G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87968387C>A | CA390747848 | GALC | c.856G>T (p.Gly286Cys) c.787G>T (p.Gly263Cys) c.778G>T (p.Gly260Cys) n.846G>T c.688G>T (p.Gly230Cys) c.223G>T (p.Gly75Cys) c.*254G>T (n.*254G>T) c.846G>T | |
| 14 | g.87968387C>G | CA390747849 | GALC | c.856G>C (p.Gly286Arg) c.787G>C (p.Gly263Arg) c.778G>C (p.Gly260Arg) n.846G>C c.688G>C (p.Gly230Arg) c.223G>C (p.Gly75Arg) c.*254G>C (n.*254G>C) c.846G>C | |
| 14 | g.87968387C>T | CA390747850 | GALC | c.856G>A (p.Gly286Ser) c.787G>A (p.Gly263Ser) c.778G>A (p.Gly260Ser) n.846G>A c.688G>A (p.Gly230Ser) c.223G>A (p.Gly75Ser) c.*254G>A (n.*254G>A) c.846G>A | gnomAD v4 |
| 14 | g.87968388T>A | CA487365368 | GALC | c.855A>T (p.Ala285=) c.786A>T (p.Ala262=) c.777A>T (p.Ala259=) n.845A>T c.687A>T (p.Ala229=) c.222A>T (p.Ala74=) c.*253A>T (n.*253A>T) c.845A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87968388T>C | CA487365370 | GALC | c.855A>G (p.Ala285=) c.786A>G (p.Ala262=) c.777A>G (p.Ala259=) n.845A>G c.687A>G (p.Ala229=) c.222A>G (p.Ala74=) c.*253A>G (n.*253A>G) c.845A>G | dbSNP |
| 14 | g.87968388T>G | CA487365367 | GALC | c.855A>C (p.Ala285=) c.786A>C (p.Ala262=) c.777A>C (p.Ala259=) n.845A>C c.687A>C (p.Ala229=) c.222A>C (p.Ala74=) c.*253A>C (n.*253A>C) c.845A>C | |
| 14 | g.87968388T= | CA2153346454 | GALC | c.855A= (p.Ala285=) c.786A= (p.Ala262=) c.777A= (p.Ala259=) n.845A= c.687A= (p.Ala229=) c.222A= (p.Ala74=) c.*253A= (n.*253A=) c.845A= | |
| 14 | g.87968389G>A | CA390747853 | GALC | c.854C>T (p.Ala285Val) c.785C>T (p.Ala262Val) c.776C>T (p.Ala259Val) n.844C>T c.686C>T (p.Ala229Val) c.221C>T (p.Ala74Val) c.*252C>T (n.*252C>T) c.844C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87968389G>C | CA390747855 | GALC | c.854C>G (p.Ala285Gly) c.785C>G (p.Ala262Gly) c.776C>G (p.Ala259Gly) n.844C>G c.686C>G (p.Ala229Gly) c.221C>G (p.Ala74Gly) c.*252C>G (n.*252C>G) c.844C>G | |
| 14 | g.87968389G= | CA2153346455 | GALC | c.854C= (p.Ala285=) c.785C= (p.Ala262=) c.776C= (p.Ala259=) n.844C= c.686C= (p.Ala229=) c.221C= (p.Ala74=) c.*252C= (n.*252C=) c.844C= | |
| 14 | g.87968389G>T | CA390747851 | GALC | c.854C>A (p.Ala285Glu) c.785C>A (p.Ala262Glu) c.776C>A (p.Ala259Glu) n.844C>A c.686C>A (p.Ala229Glu) c.221C>A (p.Ala74Glu) c.*252C>A (n.*252C>A) c.844C>A | |
| 14 | g.87968390del | CA2695219635 | GALC | c.853del (p.Ala285GlnfsTer8) c.784del (p.Ala262GlnfsTer8) c.775del (p.Ala259GlnfsTer8) n.843del c.685del (p.Ala229GlnfsTer8) c.220del (p.Ala74GlnfsTer8) c.*251del (n.*251del) c.843del | |
| 14 | g.87968390C>A | CA390747856 | GALC | c.853G>T (p.Ala285Ser) c.784G>T (p.Ala262Ser) c.775G>T (p.Ala259Ser) n.843G>T c.685G>T (p.Ala229Ser) c.220G>T (p.Ala74Ser) c.*251G>T (n.*251G>T) c.843G>T | gnomAD v4 |
| 14 | g.87968390C>G | CA390747858 | GALC | c.853G>C (p.Ala285Pro) c.784G>C (p.Ala262Pro) c.775G>C (p.Ala259Pro) n.843G>C c.685G>C (p.Ala229Pro) c.220G>C (p.Ala74Pro) c.*251G>C (n.*251G>C) c.843G>C | |
| 14 | g.87968390C>T | CA390747857 | GALC | c.853G>A (p.Ala285Thr) c.784G>A (p.Ala262Thr) c.775G>A (p.Ala259Thr) n.843G>A c.685G>A (p.Ala229Thr) c.220G>A (p.Ala74Thr) c.*251G>A (n.*251G>A) c.843G>A | COSMIC COSMIC |
| 14 | g.87968391A>C | CA487365379 | GALC | c.852T>G (p.Gly284=) c.783T>G (p.Gly261=) c.774T>G (p.Gly258=) n.842T>G c.684T>G (p.Gly228=) c.219T>G (p.Gly73=) c.*250T>G (n.*250T>G) c.842T>G | |
| 14 | g.87968391A>G | CA487365380 | GALC | c.852T>C (p.Gly284=) c.783T>C (p.Gly261=) c.774T>C (p.Gly258=) n.842T>C c.684T>C (p.Gly228=) c.219T>C (p.Gly73=) c.*250T>C (n.*250T>C) c.842T>C | |
| 14 | g.87968391A>T | CA487365382 | GALC | c.852T>A (p.Gly284=) c.783T>A (p.Gly261=) c.774T>A (p.Gly258=) n.842T>A c.684T>A (p.Gly228=) c.219T>A (p.Gly73=) c.*250T>A (n.*250T>A) c.842T>A | |
| 14 | g.87968392C>A | CA390747860 | GALC | c.851G>T (p.Gly284Val) c.782G>T (p.Gly261Val) c.773G>T (p.Gly258Val) n.841G>T c.683G>T (p.Gly228Val) c.218G>T (p.Gly73Val) c.*249G>T (n.*249G>T) c.841G>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87968392C= | CA2153346456 | GALC | c.851G= (p.Gly284=) c.782G= (p.Gly261=) c.773G= (p.Gly258=) n.841G= c.683G= (p.Gly228=) c.218G= (p.Gly73=) c.*249G= (n.*249G=) c.841G= | |
| 14 | g.87968392C>G | CA390747864 | GALC | c.851G>C (p.Gly284Ala) c.782G>C (p.Gly261Ala) c.773G>C (p.Gly258Ala) n.841G>C c.683G>C (p.Gly228Ala) c.218G>C (p.Gly73Ala) c.*249G>C (n.*249G>C) c.841G>C | |
| 14 | g.87968392C>T | CA390747862 | GALC | c.851G>A (p.Gly284Asp) c.782G>A (p.Gly261Asp) c.773G>A (p.Gly258Asp) n.841G>A c.683G>A (p.Gly228Asp) c.218G>A (p.Gly73Asp) c.*249G>A (n.*249G>A) c.841G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87968394del | CA2580088884 | GALC | c.851del (p.Gly284ValfsTer9) c.782del (p.Gly261ValfsTer9) c.773del (p.Gly258ValfsTer9) n.841del c.683del (p.Gly228ValfsTer9) c.218del (p.Gly73ValfsTer9) c.*249del (n.*249del) c.841del | ClinVar |
| 14 | g.87968393C>A | CA390747866 | GALC | c.850G>T (p.Gly284Cys) c.781G>T (p.Gly261Cys) c.772G>T (p.Gly258Cys) n.840G>T n.605G>T c.682G>T (p.Gly228Cys) c.217G>T (p.Gly73Cys) c.*248G>T (n.*248G>T) c.840G>T | |
| 14 | g.87968393C= | CA2153346457 | GALC | c.850G= (p.Gly284=) c.781G= (p.Gly261=) c.772G= (p.Gly258=) n.840G= n.605G= c.682G= (p.Gly228=) c.217G= (p.Gly73=) c.*248G= (n.*248G=) c.840G= | |
| 14 | g.87968393C>G | CA390747868 | GALC | c.850G>C (p.Gly284Arg) c.781G>C (p.Gly261Arg) c.772G>C (p.Gly258Arg) n.840G>C n.605G>C c.682G>C (p.Gly228Arg) c.217G>C (p.Gly73Arg) c.*248G>C (n.*248G>C) c.840G>C | |
| 14 | g.87968393C>T | CA7297231 | GALC | c.850G>A (p.Gly284Ser) c.781G>A (p.Gly261Ser) c.772G>A (p.Gly258Ser) n.840G>A n.605G>A c.682G>A (p.Gly228Ser) c.217G>A (p.Gly73Ser) c.*248G>A (n.*248G>A) c.840G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87968394C>A | CA390747870 | GALC | c.849G>T (p.Met283Ile) c.780G>T (p.Met260Ile) c.771G>T (p.Met257Ile) n.839G>T n.604G>T c.681G>T (p.Met227Ile) c.216G>T (p.Met72Ile) c.*247G>T (n.*247G>T) c.839G>T | dbSNP |
| 14 | g.87968394C= | CA2153346458 | GALC | c.849G= (p.Met283=) c.780G= (p.Met260=) c.771G= (p.Met257=) n.839G= n.604G= c.681G= (p.Met227=) c.216G= (p.Met72=) c.*247G= (n.*247G=) c.839G= | |
| 14 | g.87968394C>G | CA390747872 | GALC | c.849G>C (p.Met283Ile) c.780G>C (p.Met260Ile) c.771G>C (p.Met257Ile) n.839G>C n.604G>C c.681G>C (p.Met227Ile) c.216G>C (p.Met72Ile) c.*247G>C (n.*247G>C) c.839G>C | |
| 14 | g.87968394C>T | CA390747871 | GALC | c.849G>A (p.Met283Ile) c.780G>A (p.Met260Ile) c.771G>A (p.Met257Ile) n.839G>A n.604G>A c.681G>A (p.Met227Ile) c.216G>A (p.Met72Ile) c.*247G>A (n.*247G>A) c.839G>A | |
| 14 | g.87968395A= | CA2153346459 | GALC | c.848T= (p.Met283=) c.779T= (p.Met260=) c.770T= (p.Met257=) n.838T= n.603T= c.680T= (p.Met227=) c.215T= (p.Met72=) c.*246T= (n.*246T=) c.838T= | |
| 14 | g.87968395A>C | CA390747873 | GALC | c.848T>G (p.Met283Arg) c.779T>G (p.Met260Arg) c.770T>G (p.Met257Arg) n.838T>G n.603T>G c.680T>G (p.Met227Arg) c.215T>G (p.Met72Arg) c.*246T>G (n.*246T>G) c.838T>G | |
| 14 | g.87968395A>G | CA390747875 | GALC | c.848T>C (p.Met283Thr) c.779T>C (p.Met260Thr) c.770T>C (p.Met257Thr) n.838T>C n.603T>C c.680T>C (p.Met227Thr) c.215T>C (p.Met72Thr) c.*246T>C (n.*246T>C) c.838T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.87968395A>T | CA390747874 | GALC | c.848T>A (p.Met283Lys) c.779T>A (p.Met260Lys) c.770T>A (p.Met257Lys) n.838T>A n.603T>A c.680T>A (p.Met227Lys) c.215T>A (p.Met72Lys) c.*246T>A (n.*246T>A) c.838T>A | |
| 14 | g.87968396T>A | CA390747877 | GALC | c.847A>T (p.Met283Leu) c.778A>T (p.Met260Leu) c.769A>T (p.Met257Leu) n.837A>T n.602A>T c.679A>T (p.Met227Leu) c.214A>T (p.Met72Leu) c.*245A>T (n.*245A>T) c.837A>T | |
| 14 | g.87968396T>C | CA390747878 | GALC | c.847A>G (p.Met283Val) c.778A>G (p.Met260Val) c.769A>G (p.Met257Val) n.837A>G n.602A>G c.679A>G (p.Met227Val) c.214A>G (p.Met72Val) c.*245A>G (n.*245A>G) c.837A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.87968396T>G | CA390747879 | GALC | c.847A>C (p.Met283Leu) c.778A>C (p.Met260Leu) c.769A>C (p.Met257Leu) n.837A>C n.602A>C c.679A>C (p.Met227Leu) c.214A>C (p.Met72Leu) c.*245A>C (n.*245A>C) c.837A>C | |
| 14 | g.87968396_87968397insCCAAAGGACCCTCATGAACATCACCCAAATCCTCTCCCAAGAACTCTCCGCCACTGCCGCCCAAATCACCGCCGCCGTCGAGCTTTTGGACGACGGCGCGACCGTGCCGTTTATCGCCC | CA487365401 | GALC | c.846_847insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG (p.Met283GlyfsTer3) c.777_778insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG (p.Met260GlyfsTer3) c.768_769insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG (p.Met257GlyfsTer3) n.836_837insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG n.601_602insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG c.678_679insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG (p.Met227GlyfsTer3) c.213_214insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG (p.Met72GlyfsTer3) c.*244_*245insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG (n.*244_*245insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG) c.836_837insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG | |
| 14 | g.87968397G>A | CA7297232 | GALC | c.846C>T (p.Asp282=) c.777C>T (p.Asp259=) c.768C>T (p.Asp256=) n.836C>T n.601C>T c.678C>T (p.Asp226=) c.213C>T (p.Asp71=) c.*244C>T (n.*244C>T) c.836C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 14 | g.87968397G>C | CA390747880 | GALC | c.846C>G (p.Asp282Glu) c.777C>G (p.Asp259Glu) c.768C>G (p.Asp256Glu) n.836C>G n.601C>G c.678C>G (p.Asp226Glu) c.213C>G (p.Asp71Glu) c.*244C>G (n.*244C>G) c.836C>G | gnomAD v4 |
| 14 | g.87968397G= | CA2153346460 | GALC | c.846C= (p.Asp282=) c.777C= (p.Asp259=) c.768C= (p.Asp256=) n.836C= n.601C= c.678C= (p.Asp226=) c.213C= (p.Asp71=) c.*244C= (n.*244C=) c.836C= | |
| 14 | g.87968397G>T | CA390747881 | GALC | c.846C>A (p.Asp282Glu) c.777C>A (p.Asp259Glu) c.768C>A (p.Asp256Glu) n.836C>A n.601C>A c.678C>A (p.Asp226Glu) c.213C>A (p.Asp71Glu) c.*244C>A (n.*244C>A) c.836C>A | |
| 14 | g.87968398T>A | CA7297233 | GALC | c.845A>T (p.Asp282Val) c.776A>T (p.Asp259Val) c.767A>T (p.Asp256Val) n.835A>T n.600A>T c.677A>T (p.Asp226Val) c.212A>T (p.Asp71Val) c.*243A>T (n.*243A>T) c.835A>T | dbSNP ExAC gnomAD v2 |
| 14 | g.87968398T>C | CA390747884 | GALC | c.845A>G (p.Asp282Gly) c.776A>G (p.Asp259Gly) c.767A>G (p.Asp256Gly) n.835A>G n.600A>G c.677A>G (p.Asp226Gly) c.212A>G (p.Asp71Gly) c.*243A>G (n.*243A>G) c.835A>G | |
| 14 | g.87968398T>G | CA390747885 | GALC | c.845A>C (p.Asp282Ala) c.776A>C (p.Asp259Ala) c.767A>C (p.Asp256Ala) n.835A>C n.600A>C c.677A>C (p.Asp226Ala) c.212A>C (p.Asp71Ala) c.*243A>C (n.*243A>C) c.835A>C |