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Table 1 GALT variants detected in the Polish cohort

From: The genetic basis of classical galactosaemia in Polish patients

Mutation Alleles HGMD
Coding sequence Protein level No Frequency (%)
c.563A>G p.Gln188Arg 172 49.4 CM910169
c.855G>T p.Lys285Asn 112 32.2 CM920296
c.329-2A>C NA 11 3.2 CS951420
c.997C>T p.Arg333Trp 6 1.7 CM910170
c.626A>C p.Tyr209Ser 6 1.7 CM990655
c.958G>A p.Ala320Thr 4 1.1 CM950557
c.152G>T p.Arg51Leu 4 1.1 CM990628
c.425T>A p.Met142Lys 4 1.1 CM910168
c.-119_-116delGTCA;c.940A>G NA;p.Asn314Asp 3 0.9 CD991729 + CM940804
c.812A>G p.Glu271Gly 2 0.6 CM074209
c.1014C>G p.Gly338Gly 2 0.6 CS129678
c.584T>C p.Leu195Pro 2 0.6 CM920295
c.1138T>C p.Ter380Arg 2 0.6 CM990679
c.499T>C p.Trp167Arg 2 0.6 CM990646
c.626A>G p.Tyr209Cys 2 0.6 CM990656
c.507+2T>C unknown 1 0.3 CS991403
c.83-11>G unknown 1 0.3 CS129673
c.611G>C p.Arg204Pro 1 0.3 CM990653
c.982C>T p.Arg328Cys 1 0.3 CM110770
c.152G>A p.Arg51Gln 1 0.3 CM051924
c.490C>T p.Gln164Ter 1 0.3 CM990645
c.505C>A p.Gln169Lys 1 0.3 CM993449
c.1054G>C p.Glu352Gln 1 0.3 novel
c.392T>G p.Phe131Cys 1 0.3 CM074218
c.285T>G p.Phe95Leu 1 0.3 CM994053
c.748C>A p.Pro250Thr 1 0.3 CM074211
c.260C>T p.Pro87Leu 1 0.3 novel
c.404C>T p.Ser135Leu 1 0.3 CM950546
c.134C>T p.Ser45Leu 1 0.3 CM990627
  1. NA doesn't apply, unknown not detected