Table 3

Geographical subgroup analysis of allele frequency in 23 prevalent likely pathogenic variants between four nations

Nucleotide change, amino acid change/effectUSAUKFranceGermanyProgStar
c.5882G>A, p.Gly1961Glu13.60%16.20%13.55%20.00%15.05%
c.2588G>C, p.Gly863Ala7.00%9.90%2.88%8.60%7.17%
c.5461–10T>C, splice site alteration5.00%4.90%2.88%7.10%4.84%
c.4139C>T, p.Pro1380Leu4.10%4.90%4.81%0.00%3.94%
c.1622T>C, p.Leu541Pro3.30%0.70%1.92%5.70%2.69%
c.5714+5G>A, splice site alteration1.70%1.40%2.88%5.70%2.33%
c.3322C>T, p.Arg1108Cys1.70%2.80%2.88%2.90%2.33%
c.6079C>T, p.Leu2027Phe1.70%3.50%3.85%0.00%2.33%
c.6320G>A, p.Arg2107His2.10%0.70%1.92%1.40%1.61%
c.6089G>A, p.Arg2030Gln1.20%2.80%0.96%1.40%1.61%
c.3386G>T, p.Arg1129Leu*0.80%0.00%4.81%1.40%1.43%
c.4577C>T, p.Thr1526Met2.10%0.70%1.92%0.00%1.43%
c.4469G>A, p.Cys1490Tyr0.80%3.50%0.96%0.00%1.43%
c.5603A>T, p.Asn1868Ile*0.00%0.00%4.81%0.00%0.90%
c.2041C>T, p.Arg681Ter*0.00%0.00%3.85%1.40%0.90%
c.3364G>A, p.Glu1122Lys0.40%2.10%0.00%0.00%0.72%
c.6088C>T, p.Arg2030Ter0.40%2.10%0.00%0.00%0.72%
c.1648G>A, p.Gly550Arg*0.40%0.00%0.00%2.90%0.54%
c.1317G>A, p.Trp439Ter*0.00%2.10%0.00%0.00%0.54%
c.1906C>T, p.Gln636Ter*0.00%2.10%0.00%0.00%0.54%
c.183G>C, p.Met61Ile*0.00%0.00%0.00%2.90%0.36%
c.6112C>T, p.Arg2038Trp*0.00%0.00%0.00%2.90%0.36%
c.6721C>G, p.Leu2241Val*0.00%0.00%0.00%2.90%0.36%
  • The high allele frequency show on grey background was defined as the allele frequency of at least 2.0% in each subgroup and the allele frequency of at least 1.5% in the total ProgStar cohort.

  • Two hundred and seventy-nine patients harbouring multiple likely pathogenic consists of 121 patients from the USA, 71 from UK, 52 from France and 35 from Germany.

  • *Comparison analysis revealed statistical difference in nine variants.