Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.87976338C=CA2153381744GALCc.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=
14g.87976338C>GCA7297263GALCc.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
14g.87976343T>GCA2625960315GALCc.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
14g.87976345A=CA2153381745GALCc.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=
14g.87976345A>TCA264708258GALCc.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
14g.87976347A=CA2153381746GALCc.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=
14g.87976347A>GCA615276294GALCc.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
14g.87976348C>ACA2575595193GALCc.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
14g.87976348C>TCA2499222769GALCc.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
14g.87976349A>GCA2575595194GALCc.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
14g.87976350T>CCA7297264GALCc.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
14g.87976350T>GCA1139663599GALCc.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
14g.87976350T=CA2153381747GALCc.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=
14g.87976352C>ACA2575595195GALCc.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
14g.87976352C>GCA2625960316GALCc.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
14g.87976352C>TCA2625960317GALCc.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
14g.87976353C>ACA2625960318GALCc.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
14g.87976353C=CA2153381748GALCc.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=
14g.87976353C>TCA2153381749GALCc.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
14g.87976355T>CCA891843554GALCc.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
14g.87976355T=CA2153381750GALCc.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=
14g.87976356A>CCA390749231GALCc.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
14g.87976356A>GCA390749233GALCc.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
14g.87976356A>TCA390749235GALCc.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
14g.87976357C>ACA390749237GALCc.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
14g.87976357C>GCA390749238GALCc.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
14g.87976357C>TCA390749239GALCc.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
14g.87976358C>ACA390749242GALCc.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
14g.87976358C>GCA390749243GALCc.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
14g.87976358C>TCA390749245GALCc.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
14g.87976359C>ACA390749250GALCc.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
14g.87976359C>GCA390749247GALCc.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
14g.87976359C>TCA390749248GALCc.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
14g.87976360T>ACA487366208GALCc.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
14g.87976360T>CCA390749252GALCc.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
14g.87976360T>GCA487366207GALCc.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
14g.87976361A=CA2153381751GALCc.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=
14g.87976361A>CCA390749254GALCc.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
14g.87976361A>GCA10588577GALCc.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
14g.87976361A>TCA390749257GALCc.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
14g.87976362T>ACA390749261GALCc.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
14g.87976362T>CCA390749262GALCc.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
14g.87976362T>GCA390749267GALCc.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
14g.87976363A>CCA487366211GALCc.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
14g.87976363A>GCA487366210GALCc.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
14g.87976363A>TCA487366209GALCc.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
14g.87976364A=CA2153381752GALCc.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=
14g.87976364A>CCA390749270GALCc.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
14g.87976364A>GCA7297265GALCc.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
14g.87976364A>TCA390749272GALCc.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
14g.87976365C>ACA264708269GALCc.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
14g.87976365C=CA2153381753GALCc.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=
14g.87976365C>GCA390749274GALCc.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
14g.87976365C>TCA7297266GALCc.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
14g.87976366A>CCA390749277GALCc.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
14g.87976366A>GCA487366213GALCc.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
14g.87976366A>TCA390749278GALCc.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
14g.87976367T>ACA390749279GALCc.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
14g.87976367T>CCA390749280GALCc.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
14g.87976367T>GCA390749281GALCc.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
14g.87976368C>ACA390749283GALCc.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
14g.87976368C=CA2153381754GALCc.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=
14g.87976368C>GCA390749284GALCc.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
14g.87976368C>TCA145821GALCc.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
14g.87976369A>CCA487366214GALCc.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
14g.87976369A>GCA487366215GALCc.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
14g.87976369A>TCA487366216GALCc.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
14g.87976370A>CCA390749286GALCc.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
14g.87976370A>GCA390749288GALCc.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
14g.87976370A>TCA390749289GALCc.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
14g.87976371C>ACA390749292GALCc.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
14g.87976371C>GCA390749293GALCc.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
14g.87976371C>TCA390749294GALCc.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
14g.87976372C>ACA487366219GALCc.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
14g.87976372C=CA2153381755GALCc.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=
14g.87976372C>GCA487366220GALCc.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
14g.87976372C>TCA487366221GALCc.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
14g.87976373A=CA2153381756GALCc.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=
14g.87976373A>CCA390749299GALCc.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
14g.87976373A>GCA390749300GALCc.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
14g.87976373A>TCA390749297GALCc.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
14g.87976374C>ACA390749302GALCc.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
14g.87976374C>GCA390749303GALCc.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
14g.87976374C>TCA390749305GALCc.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
14g.87976375C>ACA390749307GALCc.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
14g.87976375C>GCA390749309GALCc.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
14g.87976375C>TCA487366222GALCc.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
14g.87976376T>ACA390749313GALCc.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
14g.87976376T>CCA7297267GALCc.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
14g.87976376T>GCA390749311GALCc.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
14g.87976376T=CA2153381757GALCc.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=
14g.87976377T>ACA390749315GALCc.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
14g.87976377T>CCA390749317GALCc.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
14g.87976377T>GCA390749318GALCc.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
14g.87976378G>ACA487366226GALCc.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
14g.87976378G>CCA390749321GALCc.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
14g.87976378G>TCA390749322GALCc.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
14g.87976379A>CCA390749324GALCc.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
14g.87976379A>GCA390749328GALCc.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
14g.87976379A>TCA390749326GALCc.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
14g.87976380A>CCA390749334GALCc.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
14g.87976380A>GCA390749336GALCc.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
14g.87976380A>TCA390749337GALCc.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
14g.87976381G>ACA487366227GALCc.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
14g.87976381G>CCA487366230GALCc.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
14g.87976381G>TCA487366229GALCc.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
14g.87976382A>CCA390749338GALCc.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
14g.87976382A>GCA390749340GALCc.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
14g.87976382A>TCA390749342GALCc.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
14g.87976383G>ACA390749349GALCc.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
14g.87976383G>CCA390749345GALCc.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
14g.87976383G>TCA390749347GALCc.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
14g.87976384T>ACA390749351GALCc.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
14g.87976384T>CCA487366233GALCc.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
14g.87976384T>GCA390749353GALCc.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
14g.87976385T>ACA390749355GALCc.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
14g.87976385T>CCA390749356GALCc.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
14g.87976385T>GCA390749362GALCc.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
14g.87976386C>ACA390749368GALCc.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
14g.87976386C=CA2153381758GALCc.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=
14g.87976386C>GCA390749365GALCc.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
14g.87976386C>TCA264708280GALCc.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
14g.87976387G>ACA7297268GALCc.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
14g.87976387G>CCA487366235GALCc.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
14g.87976387G=CA2153381759GALCc.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=
14g.87976387G>TCA487366236GALCc.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
14g.87976388G>ACA390749374GALCc.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
14g.87976388G>CCA390749375GALCc.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
14g.87976388G=CA2153381760GALCc.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=
14g.87976388G>TCA390749377GALCc.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
14g.87976389C>ACA390749379GALCc.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
14g.87976389C>GCA390749380GALCc.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
14g.87976389C>TCA390749382GALCc.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
14g.87976390A>CCA390749383GALCc.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
14g.87976390A>GCA487366237GALCc.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
14g.87976390A>TCA390749385GALCc.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
14g.87976391T>ACA390749387GALCc.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
14g.87976391T>CCA390749389GALCc.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
14g.87976391T>GCA390749390GALCc.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
14g.87976392C>ACA390749391GALCc.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
14g.87976392C>GCA390749395GALCc.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
14g.87976392C>TCA390749393GALCc.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
14g.87976393A>CCA487366240GALCc.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
14g.87976393A>GCA487366242GALCc.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
14g.87976393A>TCA487366241GALCc.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
14g.87976394A=CA2153381761GALCc.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=
14g.87976394A>CCA390749398GALCc.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
14g.87976394A>GCA390749400GALCc.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
14g.87976394A>TCA390749401GALCc.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
14g.87976395G>ACA390749404GALCc.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
14g.87976395G>CCA390749406GALCc.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
14g.87976395G=CA2153381762GALCc.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=
14g.87976395G>TCA390749408GALCc.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
14g.87976396G>ACA7297269GALCc.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
14g.87976396G>CCA7297270GALCc.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
14g.87976396G=CA2153381763GALCc.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=
14g.87976396G>TCA487366244GALCc.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
14g.87976397A=CA2153381764GALCc.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=
14g.87976397A>CCA390749413GALCc.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
14g.87976397A>GCA264708294GALCc.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
14g.87976397A>TCA390749414GALCc.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
14g.87976398G>ACA390749418GALCc.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
14g.87976398G>CCA390749416GALCc.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
14g.87976398G>TCA390749415GALCc.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
14g.87976399C>ACA390749420GALCc.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
14g.87976399C>GCA390749422GALCc.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
14g.87976399C>TCA390749424GALCc.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
14g.87976400A=CA2153381765GALCc.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=
14g.87976400A>CCA390749426GALCc.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
14g.87976400A>GCA390749428GALCc.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
14g.87976400A>TCA390749430GALCc.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
14g.87976401T>ACA390749432GALCc.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
14g.87976401T>CCA390749434GALCc.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
14g.87976401T>GCA390749436GALCc.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
14g.87976401T=CA2153381767GALCc.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=
14g.87976401_87976402delinsTGCA2153381766GALCc.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
14g.87976402G>ACA7297271GALCc.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
14g.87976402G>CCA487366247GALCc.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
14g.87976402G=CA2153381768GALCc.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=
14g.87976402G>TCA487366249GALCc.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
14g.87976403delCA615276306GALCc.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
14g.87976403G>ACA7297272GALCc.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
14g.87976403G>CCA390749440GALCc.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
14g.87976403G=CA2153381769GALCc.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=
14g.87976403G>TCA390749441GALCc.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
14g.87976404A=CA2153381770GALCc.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=
14g.87976404A>CCA390749445GALCc.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
14g.87976404A>GCA390749446GALCc.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
14g.87976404A>TCA390749443GALCc.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
14g.87976404_87976405insGCA615276310GALCc.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
14g.87976405T>ACA487366252GALCc.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
14g.87976405T>CCA7297273GALCc.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
14g.87976405T>GCA487366253GALCc.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
14g.87976405T=CA2153381771GALCc.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=
14g.87976406G>ACA264708308GALCc.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
14g.87976406G>CCA390749452GALCc.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
14g.87976406G=CA2153381772GALCc.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=
14g.87976406G>TCA390749450GALCc.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
14g.87976407C>ACA390749453GALCc.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
14g.87976407C>GCA390749454GALCc.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
14g.87976407C>TCA390749455GALCc.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
14g.87976408A>CCA487366257GALCc.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
14g.87976408A>GCA487366258GALCc.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
14g.87976408A>TCA487366259GALCc.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
14g.87976409G>ACA390749456GALCc.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
14g.87976409G>CCA7297274GALCc.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
14g.87976409G=CA2153381773GALCc.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=
14g.87976409G>TCA390749457GALCc.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
14g.87976410A>CCA390749459GALCc.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
14g.87976410A>GCA390749460GALCc.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
14g.87976410A>TCA390749463GALCc.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
14g.87976411G>ACA487366261GALCc.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
14g.87976411G>CCA390749465GALCc.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
14g.87976411G>TCA487366262GALCc.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
14g.87976412A>CCA390749468GALCc.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
14g.87976412A>GCA390749470GALCc.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
14g.87976412A>TCA390749473GALCc.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
14g.87976413T>ACA390749480GALCc.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
14g.87976413T>CCA390749476GALCc.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
14g.87976413T>GCA390749478GALCc.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
14g.87976414G>ACA487366264GALCc.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
14g.87976414G>CCA487366265GALCc.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
14g.87976414G>TCA487366266GALCc.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
14g.87976415G>ACA390749487GALCc.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
14g.87976415G>CCA390749496GALCc.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
14g.87976415G>TCA390749498GALCc.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
14g.87976415_87976422delinsGACTCCCACA2153381774GALCc.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
14g.87976415_87976424delinsGACTCCCAGACA2153381775GALCc.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
14g.87976416A>CCA390749500GALCc.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
14g.87976416A>GCA390749503GALCc.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
14g.87976416A>TCA390749504GALCc.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
14g.87976416_87976422delCA7297275GALCc.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
14g.87976416_87976424delCA2153381776GALCc.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
14g.87976416_87976427delinsGAGCA2573053949GALCc.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
14g.87976417C>ACA7297276GALCc.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
14g.87976417C=CA2153381777GALCc.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=
14g.87976417C>GCA264708332GALCc.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
14g.87976417C>TCA487366268GALCc.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
14g.87976418T>ACA390749517GALCc.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
14g.87976418T>CCA390749520GALCc.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
14g.87976418T>GCA390749521GALCc.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
14g.87976419C>ACA390749522GALCc.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
14g.87976419C=CA2153381778GALCc.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=
14g.87976419C>GCA390749523GALCc.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
14g.87976419C>TCA7297277GALCc.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
14g.87976421delCA2625960319GALCc.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
14g.87976420C>ACA390749524GALCc.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
14g.87976420C>GCA390749525GALCc.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
14g.87976420C>TCA390749526GALCc.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
14g.87976421C>ACA390749527GALCc.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
14g.87976421C=CA2153381779GALCc.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=
14g.87976421C>GCA390749528GALCc.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
14g.87976421C>TCA390749529GALCc.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
14g.87976422A>CCA390749530GALCc.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
14g.87976422A>GCA390749531GALCc.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
14g.87976422A>TCA390749533GALCc.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
14g.87976422_87976435delCA2625960320GALCc.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
14g.87976423G>ACA487366272GALCc.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
14g.87976423G>CCA487366273GALCc.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
14g.87976423G=CA2153381780GALCc.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=
14g.87976423G>TCA487366271GALCc.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
14g.87976424A=CA2153381781GALCc.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=
14g.87976424A>CCA390749535GALCc.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
14g.87976424A>GCA390749537GALCc.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
14g.87976424A>TCA390749538GALCc.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
14g.87976425G>ACA390749541GALCc.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
14g.87976425G>CCA390749539GALCc.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
14g.87976425G=CA2153381783GALCc.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=
14g.87976425G>TCA390749540GALCc.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
14g.87976425_87976427delinsGATCA2153381782GALCc.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
14g.87976426A>CCA390749542GALCc.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
14g.87976426A>GCA487366275GALCc.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
14g.87976426A>TCA390749544GALCc.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
14g.87976426_87976427delCA7297278GALCc.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
14g.87976427T>ACA390749545GALCc.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
14g.87976427T>CCA390749546GALCc.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
14g.87976427T>GCA390749547GALCc.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
14g.87976427T=CA2153381784GALCc.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=
14g.87976428T>ACA390749548GALCc.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
14g.87976428T>CCA390749549GALCc.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
14g.87976428T>GCA390749550GALCc.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
14g.87976429A>CCA390749553GALCc.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
14g.87976429A>GCA487366278GALCc.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
14g.87976429A>TCA390749555GALCc.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
14g.87976430T>ACA390749560GALCc.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
14g.87976430T>CCA390749561GALCc.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
14g.87976430T>GCA390749557GALCc.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
14g.87976430T=CA2153381785GALCc.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=
14g.87976431C>ACA390749571GALCc.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
14g.87976431C>GCA390749564GALCc.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
14g.87976431C>TCA390749570GALCc.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
14g.87976432A=CA2153381786GALCc.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=
14g.87976432A>CCA390749577GALCc.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
14g.87976432A>GCA487366281GALCc.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
14g.87976432A>TCA390749579GALCc.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
14g.87976433delCA2697554058GALCc.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
14g.87976433C>ACA390749581GALCc.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
14g.87976433C>GCA390749583GALCc.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
14g.87976433C>TCA390749584GALCc.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
14g.87976434T>ACA390749586GALCc.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
14g.87976434T>CCA264708342GALCc.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
14g.87976434T>GCA390749587GALCc.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
14g.87976434T=CA2153381787GALCc.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=
14g.87976435T>ACA487366282GALCc.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
14g.87976435T>CCA487366283GALCc.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
14g.87976435T>GCA487366284GALCc.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
14g.87976435T=CA2153381788GALCc.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=
14g.87976436G>ACA390749588GALCc.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
14g.87976436G>CCA7297280GALCc.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
14g.87976436G=CA2153381789GALCc.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=
14g.87976436G>TCA7297279GALCc.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
14g.87976436dupCA1139663600GALCc.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
14g.87976437C>ACA390749591GALCc.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
14g.87976437C=CA2153381790GALCc.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=
14g.87976437C>GCA390749593GALCc.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
14g.87976437C>TCA390749592GALCc.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

Number of alleles fetched