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Table 1 Reported CPT1A Pathogenic Variants

From: Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report

Country Variants case reference
Alaska c.1436C > T; a [7]
China c.281 + 1G > A/IVS2_IVS5del; c.1787 T > C/c.2201 T > C 2 [4, 8]
Korean c.837_838ins(T)/c.947G > A 1 [5]
Denmark c.167C > T 1 [9]
Finland c.1364A > C; c.1364A > C/c.1493A > C; c.1463C > T 6 [10]
Japan c.1339C > T/c.2156G > A; c.96 T > G/c.1079A > G;
2027–2028 + 2del; c.1425G > A/c.1494 T > G
4 [6, 11, 12]
Netherlands c.1737C > A; c.478C > T; c.1600delC; c.1361A > G 4 [13, 14]
American c.1393G > T; c.1027 T > C; c.478C > T; c.946C > G/?; c.986C > T; c.1163 + 1G > A; c.823G > A/c.912C > G; c.367C > T; c.2129G > A# 8 + b [1, 15, 16]
France c.298C > T; C.1241C > T/1493A > G; IVS14 + 3 kb; c.1876-1G > A 4 [17]
Indian c.1069C > T/c.1451 T > C 1 [18]
  1. Those variants followed the standard naming conventions of the Human Genome Variation Society (http://varnomen.hgvs.org/)
  2. aInuit mutation
  3. bHutterite mutation