Table 1 POLD1 pathogenic variants in MDPL
Nucleotide changes | Amino acid changes | Type of variants | Publications |
|---|---|---|---|
c.[589_589+1del; 3298G>A]a | p.(/; Gly1100Arg) | /; Missense | Oh et al. [8] |
c.1519C>T | p.(Arg507Cys) | Missense | Pelosini et al. [9] Lessel et al. [3] |
c.1812_1814del | p.(Ser605del) | In-Frame | Weedon et al. [2] Lessel et al. [3] Reinier et al. [10] Elouej et al. [7] Okada et al. [11] Wang et al. [12] Fiorillo et al. [13] Sasaki et al. [14] Wang et al. [15] Murdocca et al. [6] Yu et al. [16] Zhou et al. [17] |
c3185A> G | p.(Gln1062Arg) | Missense | This study |
c.3199G>A | p.(Glu1067Lys) | Missense | Ajluni et al. [18] |
c.3209T>A | p.(Ile1070Asn) | Missense | Elouej et al. [7] |