Table 2 List of primers used for validation of the variants

CPS1

c.2706-7855G > A^a

F: GGAGGCTGAGGCGGGCAGATC

R1: CACCATTCTCCTGCCTCAGCCTCT

R2: GTAGCTGGGACTACAGGCGCCT

c.2706-7798delA^a

c.2706-7745C > G

F1: GAG ACC ATC CTG GCT AAC ACG GTG AAA C

R1: GTC TCG CTC TCT CTC CCA GGC TG

p.Gly1382Ser/c.4144G > A

F: CTAAAACTCACACTCACCATAGAAGG

R: AGATTCCATGCTGACAGAAAACAAC

p.Arg1748Gln/c.5243G > A

F: TCTCTTCTGCATTTTGACACTCCTG

R: TTTCTTTAGAACACAAGCCTCCTCAG

MYH15

p.Glu1811Lys/c.5431G > A

F: ACTGTCAAGCCCTCATGATTACC

R: AAGAACTGAAGAAGAAGCAAGACAC

p.Ala1003Val/c.3008C > T

F: TTCTTCTTAGGTTAAAAACCTTACTGAGG

R: GTTTGCTCTTGGTTTTGTTCAAAG

MYH3

p.Ala1198Thr/c.3592G > A

F: TGACCCGCTGCAGGTTG

R: CGTCACCTCCACGCAGATAG

p.Ala1604Thr/c.4810G > A

F: TCAGGTCCCCCTCCATCTTC

R: GAGCAGCTGAAGAGGAACTACC

p.Ala1752Thr/c.5254G > A

F: CTCATGCAGCTCCAGAGTGAGG

R: GGCTTTAATGCAATGCAATCCCG

p.Ile264Thr/c.791 T > C

F: CAAACACAGGACTCTCTTTCAAACTG

R: GCCATGGTAGAATCTGGTCTCC

p.Met798Val/c.2392A > G

F: GAGCTCATGTCTGAACAAAGACCC

R: CTTCTGCCCCATAAGGTGTTCTTC

p.Ser1240Leu/c.3719C > T

F: CAGGTTTCAATGACCACGGAGT

R: GGAGAAGGAGAAGAGCGAGTTC

p.Thr442Ile/c.1325C > T

F: GATCTGGAACACAAACACAGGACTC

R: GGGCCATGGTAGAATCTGGTC