Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.87976328T>A | CA7297262 | GALC | c.752+30A>T (n.752+30A>T) c.683+30A>T (n.683+30A>T) c.674+30A>T (n.674+30A>T) n.742+30A>T n.507+30A>T c.584+30A>T (n.584+30A>T) c.119+30A>T (n.119+30A>T) c.*150+30A>T (n.*150+30A>T) c.742+30A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.87976328T= | CA2153381740 | GALC | c.752+30A= (n.752+30A=) c.683+30A= (n.683+30A=) c.674+30A= (n.674+30A=) n.742+30A= n.507+30A= c.584+30A= (n.584+30A=) c.119+30A= (n.119+30A=) c.*150+30A= (n.*150+30A=) c.742+30A= | |
14 | g.87976329G>A | CA2625960313 | GALC | c.752+29C>T (n.752+29C>T) c.683+29C>T (n.683+29C>T) c.674+29C>T (n.674+29C>T) n.742+29C>T n.507+29C>T c.584+29C>T (n.584+29C>T) c.119+29C>T (n.119+29C>T) c.*150+29C>T (n.*150+29C>T) c.742+29C>T | gnomAD v4 |
14 | g.87976329G>T | CA2625960314 | GALC | c.752+29C>A (n.752+29C>A) c.683+29C>A (n.683+29C>A) c.674+29C>A (n.674+29C>A) n.742+29C>A n.507+29C>A c.584+29C>A (n.584+29C>A) c.119+29C>A (n.119+29C>A) c.*150+29C>A (n.*150+29C>A) c.742+29C>A | gnomAD v4 |
14 | g.87976330C= | CA2153381741 | GALC | c.752+28G= (n.752+28G=) c.683+28G= (n.683+28G=) c.674+28G= (n.674+28G=) n.742+28G= n.507+28G= c.584+28G= (n.584+28G=) c.119+28G= (n.119+28G=) c.*150+28G= (n.*150+28G=) c.742+28G= | |
14 | g.87976330C>T | CA965688211 | GALC | c.752+28G>A (n.752+28G>A) c.683+28G>A (n.683+28G>A) c.674+28G>A (n.674+28G>A) n.742+28G>A n.507+28G>A c.584+28G>A (n.584+28G>A) c.119+28G>A (n.119+28G>A) c.*150+28G>A (n.*150+28G>A) c.742+28G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.87976333G>T | CA2838350768 | GALC | c.752+25C>A (n.752+25C>A) c.683+25C>A (n.683+25C>A) c.674+25C>A (n.674+25C>A) n.742+25C>A n.507+25C>A c.584+25C>A (n.584+25C>A) c.119+25C>A (n.119+25C>A) c.*150+25C>A (n.*150+25C>A) c.742+25C>A | |
14 | g.87976334T>C | CA709632125 | GALC | c.752+24A>G (n.752+24A>G) c.683+24A>G (n.683+24A>G) c.674+24A>G (n.674+24A>G) n.742+24A>G n.507+24A>G c.584+24A>G (n.584+24A>G) c.119+24A>G (n.119+24A>G) c.*150+24A>G (n.*150+24A>G) c.742+24A>G | dbSNP gnomAD v4 |
14 | g.87976334T= | CA2153381742 | GALC | c.752+24A= (n.752+24A=) c.683+24A= (n.683+24A=) c.674+24A= (n.674+24A=) n.742+24A= n.507+24A= c.584+24A= (n.584+24A=) c.119+24A= (n.119+24A=) c.*150+24A= (n.*150+24A=) c.742+24A= | |
14 | g.87976335T>C | CA264708256 | GALC | c.752+23A>G (n.752+23A>G) c.683+23A>G (n.683+23A>G) c.674+23A>G (n.674+23A>G) n.742+23A>G n.507+23A>G c.584+23A>G (n.584+23A>G) c.119+23A>G (n.119+23A>G) c.*150+23A>G (n.*150+23A>G) c.742+23A>G | dbSNP |
14 | g.87976335T= | CA2153381743 | GALC | c.752+23A= (n.752+23A=) c.683+23A= (n.683+23A=) c.674+23A= (n.674+23A=) n.742+23A= n.507+23A= c.584+23A= (n.584+23A=) c.119+23A= (n.119+23A=) c.*150+23A= (n.*150+23A=) c.742+23A= | |
14 | g.87976338C= | CA2153381744 | GALC | c.752+20G= (n.752+20G=) c.683+20G= (n.683+20G=) c.674+20G= (n.674+20G=) n.742+20G= n.507+20G= c.584+20G= (n.584+20G=) c.119+20G= (n.119+20G=) c.*150+20G= (n.*150+20G=) c.742+20G= | |
14 | g.87976338C>G | CA7297263 | GALC | c.752+20G>C (n.752+20G>C) c.683+20G>C (n.683+20G>C) c.674+20G>C (n.674+20G>C) n.742+20G>C n.507+20G>C c.584+20G>C (n.584+20G>C) c.119+20G>C (n.119+20G>C) c.*150+20G>C (n.*150+20G>C) c.742+20G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87976343T>G | CA2625960315 | GALC | c.752+15A>C (n.752+15A>C) c.683+15A>C (n.683+15A>C) c.674+15A>C (n.674+15A>C) n.742+15A>C n.507+15A>C c.584+15A>C (n.584+15A>C) c.119+15A>C (n.119+15A>C) c.*150+15A>C (n.*150+15A>C) c.742+15A>C | gnomAD v4 |
14 | g.87976345A= | CA2153381745 | GALC | c.752+13T= (n.752+13T=) c.683+13T= (n.683+13T=) c.674+13T= (n.674+13T=) n.742+13T= n.507+13T= c.584+13T= (n.584+13T=) c.119+13T= (n.119+13T=) c.*150+13T= (n.*150+13T=) c.742+13T= | |
14 | g.87976345A>T | CA264708258 | GALC | c.752+13T>A (n.752+13T>A) c.683+13T>A (n.683+13T>A) c.674+13T>A (n.674+13T>A) n.742+13T>A n.507+13T>A c.584+13T>A (n.584+13T>A) c.119+13T>A (n.119+13T>A) c.*150+13T>A (n.*150+13T>A) c.742+13T>A | dbSNP gnomAD v4 |
14 | g.87976347A= | CA2153381746 | GALC | c.752+11T= (n.752+11T=) c.683+11T= (n.683+11T=) c.674+11T= (n.674+11T=) n.742+11T= n.507+11T= c.584+11T= (n.584+11T=) c.119+11T= (n.119+11T=) c.*150+11T= (n.*150+11T=) c.742+11T= | |
14 | g.87976347A>G | CA615276294 | GALC | c.752+11T>C (n.752+11T>C) c.683+11T>C (n.683+11T>C) c.674+11T>C (n.674+11T>C) n.742+11T>C n.507+11T>C c.584+11T>C (n.584+11T>C) c.119+11T>C (n.119+11T>C) c.*150+11T>C (n.*150+11T>C) c.742+11T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87976348C>A | CA2575595193 | GALC | c.752+10G>T (n.752+10G>T) c.683+10G>T (n.683+10G>T) c.674+10G>T (n.674+10G>T) n.742+10G>T n.507+10G>T c.584+10G>T (n.584+10G>T) c.119+10G>T (n.119+10G>T) c.*150+10G>T (n.*150+10G>T) c.742+10G>T | |
14 | g.87976348C>T | CA2499222769 | GALC | c.752+10G>A (n.752+10G>A) c.683+10G>A (n.683+10G>A) c.674+10G>A (n.674+10G>A) n.742+10G>A n.507+10G>A c.584+10G>A (n.584+10G>A) c.119+10G>A (n.119+10G>A) c.*150+10G>A (n.*150+10G>A) c.742+10G>A | ClinVar dbSNP |
14 | g.87976349A>G | CA2575595194 | GALC | c.752+9T>C (n.752+9T>C) c.683+9T>C (n.683+9T>C) c.674+9T>C (n.674+9T>C) n.742+9T>C n.507+9T>C c.584+9T>C (n.584+9T>C) c.119+9T>C (n.119+9T>C) c.*150+9T>C (n.*150+9T>C) c.742+9T>C | gnomAD v4 |
14 | g.87976350T>C | CA7297264 | GALC | c.752+8A>G (n.752+8A>G) c.683+8A>G (n.683+8A>G) c.674+8A>G (n.674+8A>G) n.742+8A>G n.507+8A>G c.584+8A>G (n.584+8A>G) c.119+8A>G (n.119+8A>G) c.*150+8A>G (n.*150+8A>G) c.742+8A>G | ClinVar dbSNP ExAC gnomAD v4 |
14 | g.87976350T>G | CA1139663599 | GALC | c.752+8A>C (n.752+8A>C) c.683+8A>C (n.683+8A>C) c.674+8A>C (n.674+8A>C) n.742+8A>C n.507+8A>C c.584+8A>C (n.584+8A>C) c.119+8A>C (n.119+8A>C) c.*150+8A>C (n.*150+8A>C) c.742+8A>C | ClinVar dbSNP |
14 | g.87976350T= | CA2153381747 | GALC | c.752+8A= (n.752+8A=) c.683+8A= (n.683+8A=) c.674+8A= (n.674+8A=) n.742+8A= n.507+8A= c.584+8A= (n.584+8A=) c.119+8A= (n.119+8A=) c.*150+8A= (n.*150+8A=) c.742+8A= | |
14 | g.87976352C>A | CA2575595195 | GALC | c.752+6G>T (n.752+6G>T) c.683+6G>T (n.683+6G>T) c.674+6G>T (n.674+6G>T) n.742+6G>T n.507+6G>T c.584+6G>T (n.584+6G>T) c.119+6G>T (n.119+6G>T) c.*150+6G>T (n.*150+6G>T) c.742+6G>T | gnomAD v4 |
14 | g.87976352C>G | CA2625960316 | GALC | c.752+6G>C (n.752+6G>C) c.683+6G>C (n.683+6G>C) c.674+6G>C (n.674+6G>C) n.742+6G>C n.507+6G>C c.584+6G>C (n.584+6G>C) c.119+6G>C (n.119+6G>C) c.*150+6G>C (n.*150+6G>C) c.742+6G>C | gnomAD v4 |
14 | g.87976352C>T | CA2625960317 | GALC | c.752+6G>A (n.752+6G>A) c.683+6G>A (n.683+6G>A) c.674+6G>A (n.674+6G>A) n.742+6G>A n.507+6G>A c.584+6G>A (n.584+6G>A) c.119+6G>A (n.119+6G>A) c.*150+6G>A (n.*150+6G>A) c.742+6G>A | gnomAD v4 |
14 | g.87976353C>A | CA2625960318 | GALC | c.752+5G>T (n.752+5G>T) c.683+5G>T (n.683+5G>T) c.674+5G>T (n.674+5G>T) n.742+5G>T n.507+5G>T c.584+5G>T (n.584+5G>T) c.119+5G>T (n.119+5G>T) c.*150+5G>T (n.*150+5G>T) c.742+5G>T | gnomAD v4 |
14 | g.87976353C= | CA2153381748 | GALC | c.752+5G= (n.752+5G=) c.683+5G= (n.683+5G=) c.674+5G= (n.674+5G=) n.742+5G= n.507+5G= c.584+5G= (n.584+5G=) c.119+5G= (n.119+5G=) c.*150+5G= (n.*150+5G=) c.742+5G= | |
14 | g.87976353C>T | CA2153381749 | GALC | c.752+5G>A (n.752+5G>A) c.683+5G>A (n.683+5G>A) c.674+5G>A (n.674+5G>A) n.742+5G>A n.507+5G>A c.584+5G>A (n.584+5G>A) c.119+5G>A (n.119+5G>A) c.*150+5G>A (n.*150+5G>A) c.742+5G>A | dbSNP gnomAD v4 |
14 | g.87976355T>C | CA891843554 | GALC | c.752+3A>G (n.752+3A>G) c.683+3A>G (n.683+3A>G) c.674+3A>G (n.674+3A>G) n.742+3A>G n.507+3A>G c.584+3A>G (n.584+3A>G) c.119+3A>G (n.119+3A>G) c.*150+3A>G (n.*150+3A>G) c.742+3A>G | ClinVar dbSNP gnomAD v4 |
14 | g.87976355T= | CA2153381750 | GALC | c.752+3A= (n.752+3A=) c.683+3A= (n.683+3A=) c.674+3A= (n.674+3A=) n.742+3A= n.507+3A= c.584+3A= (n.584+3A=) c.119+3A= (n.119+3A=) c.*150+3A= (n.*150+3A=) c.742+3A= | |
14 | g.87976356A>C | CA390749231 | GALC | c.752+2T>G (n.752+2T>G) c.683+2T>G (n.683+2T>G) c.674+2T>G (n.674+2T>G) n.742+2T>G n.507+2T>G c.584+2T>G (n.584+2T>G) c.119+2T>G (n.119+2T>G) c.*150+2T>G (n.*150+2T>G) c.742+2T>G | |
14 | g.87976356A>G | CA390749233 | GALC | c.752+2T>C (n.752+2T>C) c.683+2T>C (n.683+2T>C) c.674+2T>C (n.674+2T>C) n.742+2T>C n.507+2T>C c.584+2T>C (n.584+2T>C) c.119+2T>C (n.119+2T>C) c.*150+2T>C (n.*150+2T>C) c.742+2T>C | |
14 | g.87976356A>T | CA390749235 | GALC | c.752+2T>A (n.752+2T>A) c.683+2T>A (n.683+2T>A) c.674+2T>A (n.674+2T>A) n.742+2T>A n.507+2T>A c.584+2T>A (n.584+2T>A) c.119+2T>A (n.119+2T>A) c.*150+2T>A (n.*150+2T>A) c.742+2T>A | gnomAD v4 |
14 | g.87976357C>A | CA390749237 | GALC | c.752+1G>T (n.752+1G>T) c.683+1G>T (n.683+1G>T) c.674+1G>T (n.674+1G>T) n.742+1G>T n.507+1G>T c.584+1G>T (n.584+1G>T) c.119+1G>T (n.119+1G>T) c.*150+1G>T (n.*150+1G>T) c.742+1G>T | |
14 | g.87976357C>G | CA390749238 | GALC | c.752+1G>C (n.752+1G>C) c.683+1G>C (n.683+1G>C) c.674+1G>C (n.674+1G>C) n.742+1G>C n.507+1G>C c.584+1G>C (n.584+1G>C) c.119+1G>C (n.119+1G>C) c.*150+1G>C (n.*150+1G>C) c.742+1G>C | |
14 | g.87976357C>T | CA390749239 | GALC | c.752+1G>A (n.752+1G>A) c.683+1G>A (n.683+1G>A) c.674+1G>A (n.674+1G>A) n.742+1G>A n.507+1G>A c.584+1G>A (n.584+1G>A) c.119+1G>A (n.119+1G>A) c.*150+1G>A (n.*150+1G>A) c.742+1G>A | ClinVar dbSNP |
14 | g.87976358C>A | CA390749242 | GALC | c.752G>T (p.Gly251Val) c.683G>T (p.Gly228Val) c.674G>T (p.Gly225Val) n.742G>T n.507G>T c.584G>T (p.Gly195Val) n.631G>T c.119G>T (p.Gly40Val) c.*150G>T (n.*150G>T) c.742G>T | |
14 | g.87976358C>G | CA390749243 | GALC | c.752G>C (p.Gly251Ala) c.683G>C (p.Gly228Ala) c.674G>C (p.Gly225Ala) n.742G>C n.507G>C c.584G>C (p.Gly195Ala) n.631G>C c.119G>C (p.Gly40Ala) c.*150G>C (n.*150G>C) c.742G>C | |
14 | g.87976358C>T | CA390749245 | GALC | c.752G>A (p.Gly251Glu) c.683G>A (p.Gly228Glu) c.674G>A (p.Gly225Glu) n.742G>A n.507G>A c.584G>A (p.Gly195Glu) n.631G>A c.119G>A (p.Gly40Glu) c.*150G>A (n.*150G>A) c.742G>A | |
14 | g.87976359C>A | CA390749250 | GALC | c.751G>T (p.Gly251Trp) c.682G>T (p.Gly228Trp) c.673G>T (p.Gly225Trp) n.741G>T n.506G>T c.583G>T (p.Gly195Trp) n.630G>T c.118G>T (p.Gly40Trp) c.*149G>T (n.*149G>T) c.741G>T | |
14 | g.87976359C>G | CA390749247 | GALC | c.751G>C (p.Gly251Arg) c.682G>C (p.Gly228Arg) c.673G>C (p.Gly225Arg) n.741G>C n.506G>C c.583G>C (p.Gly195Arg) n.630G>C c.118G>C (p.Gly40Arg) c.*149G>C (n.*149G>C) c.741G>C | |
14 | g.87976359C>T | CA390749248 | GALC | c.751G>A (p.Gly251Arg) c.682G>A (p.Gly228Arg) c.673G>A (p.Gly225Arg) n.741G>A n.506G>A c.583G>A (p.Gly195Arg) n.630G>A c.118G>A (p.Gly40Arg) c.*149G>A (n.*149G>A) c.741G>A | gnomAD v4 |
14 | g.87976360T>A | CA487366208 | GALC | c.750A>T (p.Ile250=) c.681A>T (p.Ile227=) c.672A>T (p.Ile224=) n.740A>T n.505A>T c.582A>T (p.Ile194=) n.629A>T c.117A>T (p.Ile39=) c.*148A>T (n.*148A>T) c.740A>T | |
14 | g.87976360T>C | CA390749252 | GALC | c.750A>G (p.Ile250Met) c.681A>G (p.Ile227Met) c.672A>G (p.Ile224Met) n.740A>G n.505A>G c.582A>G (p.Ile194Met) n.629A>G c.117A>G (p.Ile39Met) c.*148A>G (n.*148A>G) c.740A>G | ClinVar dbSNP gnomAD v4 |
14 | g.87976360T>G | CA487366207 | GALC | c.750A>C (p.Ile250=) c.681A>C (p.Ile227=) c.672A>C (p.Ile224=) n.740A>C n.505A>C c.582A>C (p.Ile194=) n.629A>C c.117A>C (p.Ile39=) c.*148A>C (n.*148A>C) c.740A>C | |
14 | g.87976361A= | CA2153381751 | GALC | c.749T= (p.Ile250=) c.680T= (p.Ile227=) c.671T= (p.Ile224=) n.739T= n.504T= c.581T= (p.Ile194=) n.628T= c.116T= (p.Ile39=) c.*147T= (n.*147T=) c.739T= | |
14 | g.87976361A>C | CA390749254 | GALC | c.749T>G (p.Ile250Arg) c.680T>G (p.Ile227Arg) c.671T>G (p.Ile224Arg) n.739T>G n.504T>G c.581T>G (p.Ile194Arg) n.628T>G c.116T>G (p.Ile39Arg) c.*147T>G (n.*147T>G) c.739T>G | gnomAD v4 |
14 | g.87976361A>G | CA10588577 | GALC | c.749T>C (p.Ile250Thr) c.680T>C (p.Ile227Thr) c.671T>C (p.Ile224Thr) n.739T>C n.504T>C c.581T>C (p.Ile194Thr) n.628T>C c.116T>C (p.Ile39Thr) c.*147T>C (n.*147T>C) c.739T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.87976361A>T | CA390749257 | GALC | c.749T>A (p.Ile250Lys) c.680T>A (p.Ile227Lys) c.671T>A (p.Ile224Lys) n.739T>A n.504T>A c.581T>A (p.Ile194Lys) n.628T>A c.116T>A (p.Ile39Lys) c.*147T>A (n.*147T>A) c.739T>A | |
14 | g.87976362T>A | CA390749261 | GALC | c.748A>T (p.Ile250Leu) c.679A>T (p.Ile227Leu) c.670A>T (p.Ile224Leu) n.738A>T n.503A>T c.580A>T (p.Ile194Leu) n.627A>T c.115A>T (p.Ile39Leu) c.*146A>T (n.*146A>T) c.738A>T | |
14 | g.87976362T>C | CA390749262 | GALC | c.748A>G (p.Ile250Val) c.679A>G (p.Ile227Val) c.670A>G (p.Ile224Val) n.738A>G n.503A>G c.580A>G (p.Ile194Val) n.627A>G c.115A>G (p.Ile39Val) c.*146A>G (n.*146A>G) c.738A>G | |
14 | g.87976362T>G | CA390749267 | GALC | c.748A>C (p.Ile250Leu) c.679A>C (p.Ile227Leu) c.670A>C (p.Ile224Leu) n.738A>C n.503A>C c.580A>C (p.Ile194Leu) n.627A>C c.115A>C (p.Ile39Leu) c.*146A>C (n.*146A>C) c.738A>C | |
14 | g.87976363A>C | CA487366211 | GALC | c.747T>G (p.Val249=) c.678T>G (p.Val226=) c.669T>G (p.Val223=) n.737T>G n.502T>G c.579T>G (p.Val193=) n.626T>G c.114T>G (p.Val38=) c.*145T>G (n.*145T>G) c.737T>G | |
14 | g.87976363A>G | CA487366210 | GALC | c.747T>C (p.Val249=) c.678T>C (p.Val226=) c.669T>C (p.Val223=) n.737T>C n.502T>C c.579T>C (p.Val193=) n.626T>C c.114T>C (p.Val38=) c.*145T>C (n.*145T>C) c.737T>C | |
14 | g.87976363A>T | CA487366209 | GALC | c.747T>A (p.Val249=) c.678T>A (p.Val226=) c.669T>A (p.Val223=) n.737T>A n.502T>A c.579T>A (p.Val193=) n.626T>A c.114T>A (p.Val38=) c.*145T>A (n.*145T>A) c.737T>A | |
14 | g.87976364A= | CA2153381752 | GALC | c.746T= (p.Val249=) c.677T= (p.Val226=) c.668T= (p.Val223=) n.736T= n.501T= c.578T= (p.Val193=) n.625T= c.113T= (p.Val38=) c.*144T= (n.*144T=) c.736T= | |
14 | g.87976364A>C | CA390749270 | GALC | c.746T>G (p.Val249Gly) c.677T>G (p.Val226Gly) c.668T>G (p.Val223Gly) n.736T>G n.501T>G c.578T>G (p.Val193Gly) n.625T>G c.113T>G (p.Val38Gly) c.*144T>G (n.*144T>G) c.736T>G | |
14 | g.87976364A>G | CA7297265 | GALC | c.746T>C (p.Val249Ala) c.677T>C (p.Val226Ala) c.668T>C (p.Val223Ala) n.736T>C n.501T>C c.578T>C (p.Val193Ala) n.625T>C c.113T>C (p.Val38Ala) c.*144T>C (n.*144T>C) c.736T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87976364A>T | CA390749272 | GALC | c.746T>A (p.Val249Asp) c.677T>A (p.Val226Asp) c.668T>A (p.Val223Asp) n.736T>A n.501T>A c.578T>A (p.Val193Asp) n.625T>A c.113T>A (p.Val38Asp) c.*144T>A (n.*144T>A) c.736T>A | |
14 | g.87976365C>A | CA264708269 | GALC | c.745G>T (p.Val249Phe) c.676G>T (p.Val226Phe) c.667G>T (p.Val223Phe) n.735G>T n.500G>T c.577G>T (p.Val193Phe) n.624G>T c.112G>T (p.Val38Phe) c.*143G>T (n.*143G>T) c.735G>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.87976365C= | CA2153381753 | GALC | c.745G= (p.Val249=) c.676G= (p.Val226=) c.667G= (p.Val223=) n.735G= n.500G= c.577G= (p.Val193=) n.624G= c.112G= (p.Val38=) c.*143G= (n.*143G=) c.735G= | |
14 | g.87976365C>G | CA390749274 | GALC | c.745G>C (p.Val249Leu) c.676G>C (p.Val226Leu) c.667G>C (p.Val223Leu) n.735G>C n.500G>C c.577G>C (p.Val193Leu) n.624G>C c.112G>C (p.Val38Leu) c.*143G>C (n.*143G>C) c.735G>C | |
14 | g.87976365C>T | CA7297266 | GALC | c.745G>A (p.Val249Ile) c.676G>A (p.Val226Ile) c.667G>A (p.Val223Ile) n.735G>A n.500G>A c.577G>A (p.Val193Ile) n.624G>A c.112G>A (p.Val38Ile) c.*143G>A (n.*143G>A) c.735G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.87976366A>C | CA390749277 | GALC | c.744T>G (p.Asp248Glu) c.675T>G (p.Asp225Glu) c.666T>G (p.Asp222Glu) n.734T>G n.499T>G c.576T>G (p.Asp192Glu) n.623T>G c.111T>G (p.Asp37Glu) c.*142T>G (n.*142T>G) c.734T>G | |
14 | g.87976366A>G | CA487366213 | GALC | c.744T>C (p.Asp248=) c.675T>C (p.Asp225=) c.666T>C (p.Asp222=) n.734T>C n.499T>C c.576T>C (p.Asp192=) n.623T>C c.111T>C (p.Asp37=) c.*142T>C (n.*142T>C) c.734T>C | ClinVar gnomAD v4 |
14 | g.87976366A>T | CA390749278 | GALC | c.744T>A (p.Asp248Glu) c.675T>A (p.Asp225Glu) c.666T>A (p.Asp222Glu) n.734T>A n.499T>A c.576T>A (p.Asp192Glu) n.623T>A c.111T>A (p.Asp37Glu) c.*142T>A (n.*142T>A) c.734T>A | |
14 | g.87976367T>A | CA390749279 | GALC | c.743A>T (p.Asp248Val) c.674A>T (p.Asp225Val) c.665A>T (p.Asp222Val) n.733A>T n.498A>T c.575A>T (p.Asp192Val) n.622A>T c.110A>T (p.Asp37Val) c.*141A>T (n.*141A>T) c.733A>T | |
14 | g.87976367T>C | CA390749280 | GALC | c.743A>G (p.Asp248Gly) c.674A>G (p.Asp225Gly) c.665A>G (p.Asp222Gly) n.733A>G n.498A>G c.575A>G (p.Asp192Gly) n.622A>G c.110A>G (p.Asp37Gly) c.*141A>G (n.*141A>G) c.733A>G | |
14 | g.87976367T>G | CA390749281 | GALC | c.743A>C (p.Asp248Ala) c.674A>C (p.Asp225Ala) c.665A>C (p.Asp222Ala) n.733A>C n.498A>C c.575A>C (p.Asp192Ala) n.622A>C c.110A>C (p.Asp37Ala) c.*141A>C (n.*141A>C) c.733A>C | |
14 | g.87976368C>A | CA390749283 | GALC | c.742G>T (p.Asp248Tyr) c.673G>T (p.Asp225Tyr) c.664G>T (p.Asp222Tyr) n.732G>T n.497G>T c.574G>T (p.Asp192Tyr) n.621G>T c.109G>T (p.Asp37Tyr) c.*140G>T (n.*140G>T) c.732G>T | |
14 | g.87976368C= | CA2153381754 | GALC | c.742G= (p.Asp248=) c.673G= (p.Asp225=) c.664G= (p.Asp222=) n.732G= n.497G= c.574G= (p.Asp192=) n.621G= c.109G= (p.Asp37=) c.*140G= (n.*140G=) c.732G= | |
14 | g.87976368C>G | CA390749284 | GALC | c.742G>C (p.Asp248His) c.673G>C (p.Asp225His) c.664G>C (p.Asp222His) n.732G>C n.497G>C c.574G>C (p.Asp192His) n.621G>C c.109G>C (p.Asp37His) c.*140G>C (n.*140G>C) c.732G>C | dbSNP |
14 | g.87976368C>T | CA145821 | GALC | c.742G>A (p.Asp248Asn) c.673G>A (p.Asp225Asn) c.664G>A (p.Asp222Asn) n.732G>A n.497G>A c.574G>A (p.Asp192Asn) n.621G>A c.109G>A (p.Asp37Asn) c.*140G>A (n.*140G>A) c.732G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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 |